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
MOG	4340	broad.mit.edu	37	6	29625047	29625047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29625047C>T	ENST00000376894.4	+	1	179	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Missense_Mutation_p.L21F|MOG_ENST00000376902.3_Missense_Mutation_p.L21F|MOG_ENST00000396701.2_Missense_Mutation_p.L21F|MOG_ENST00000431798.2_Missense_Mutation_p.L21F|MOG_ENST00000376888.2_Missense_Mutation_p.L21F|MOG_ENST00000376917.3_Missense_Mutation_p.L21F|MOG_ENST00000416766.2_Missense_Mutation_p.L21F|MOG_ENST00000396704.3_Missense_Mutation_p.L21F|MOG_ENST00000533330.2_Missense_Mutation_p.L21F|MOG_ENST00000376891.4_Missense_Mutation_p.L21F|MOG_ENST00000490427.1_Missense_Mutation_p.L21F|MOG_ENST00000483013.1_Missense_Mutation_p.L21F|MOG_ENST00000494692.1_Missense_Mutation_p.L21F			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	21					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						cctcctcctcctcctccAAGT	0.552000													11	16					0	0	0.000978	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649205	75649205	+	Silent	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:75649205C>G	ENST00000361470.2	+	1	1160	c.882C>G	c.(880-882)acC>acG	p.T294T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	294	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GATCAAGCACCTCCGTGCCCC	0.706000													6	6					0	0	0.001168	0	0
OR10J5	127385	broad.mit.edu	37	1	159504995	159504995	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159504995T>G	ENST00000334857.2	-	1	847	c.803A>C	c.(802-804)gAa>gCa	p.E268A		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGGTCTTTTTCTATTGAACT	0.483000													21	70					0	0	0.001882	0	0
PALLD	23022	broad.mit.edu	37	4	169632881	169632881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169632881G>A	ENST00000335742.7	+	10	1982	c.625G>A	c.(625-627)Gag>Aag	p.E209K	PALLD_ENST00000505667.1_Missense_Mutation_p.E591K|PALLD_ENST00000261509.6_Missense_Mutation_p.E591K|PALLD_ENST00000512127.1_Missense_Mutation_p.E209K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	591					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAACAACCCTGAGTTAGGCCT	0.507000									Pancreatic Cancer, Familial Clustering of				24	57					0	0	0.007291	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179315211	179315211	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:179315211G>A	ENST00000356834.3	-	7	1183	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	TBC1D9B_ENST00000355235.3_Silent_p.D382D	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	382						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAATCACGGTCTTTCAGGT	0.522000													28	135					0	0	0.005443	0	0
MXRA5	25878	broad.mit.edu	37	X	3239636	3239636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:3239636C>T	ENST00000217939.6	-	5	4244	c.4090G>A	c.(4090-4092)Gaa>Aaa	p.E1364K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1364						extracellular region		p.E1364*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTTAAATTCTCCCATAGTG	0.468000													13	5					0	0	0.002450	0	0
HERC2	8924	broad.mit.edu	37	15	28502311	28502311	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:28502311G>A	ENST00000261609.7	-	17	2521	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	805					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCCGAAGCAGGAGATCCAGC	0.557000													30	35					0	0	0.007291	0	0
CRIM1	51232	broad.mit.edu	37	2	36749303	36749303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:36749303G>A	ENST00000280527.2	+	13	2642	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	759	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGATGAAGGGGATATATTCCT	0.448000													72	36					0	0	0.003610	0	0
GEMIN4	50628	broad.mit.edu	37	17	650010	650010	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:650010A>T	ENST00000576778.1	-	1	2581	c.1240T>A	c.(1240-1242)Ttt>Att	p.F414I	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Missense_Mutation_p.F425I			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	425					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGAGGCAAAAATGTAGCAC	0.562000													11	27					0	0	0.008291	0	0
MARC1	64757	broad.mit.edu	37	1	220971337	220971337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:220971337G>A	ENST00000366910.5	+	4	920	c.734G>A	c.(733-735)gGa>gAa	p.G245E	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	245	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GTAATTTCAGGATGCGATGTC	0.423000													54	215					0	0	0.003610	0	0
KLHL40	131377	broad.mit.edu	37	3	42733442	42733442	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:42733442T>G	ENST00000287777.4	+	6	1923	c.1823T>G	c.(1822-1824)tTc>tGc	p.F608C		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGTGCCACCTTCCTACCAGTG	0.582000													34	52					0	0	0.004878	0	0
OR1J2	26740	broad.mit.edu	37	9	125273173	125273173	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:125273173C>T	ENST00000335302.5	+	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCACCCTGTTCCTGGGCATGT	0.587000													64	51					0	0	0.003610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361321	70361321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70361321C>A	ENST00000305107.6	-	1	305	c.259G>T	c.(259-261)Gag>Tag	p.E87*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.E87*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	87					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAATATCCTCAAACTCAGTT	0.358000													14	25					4.3838e-07	5.25371e-07	0.001855	1	0
TNXB	7148	broad.mit.edu	37	6	32046847	32046847	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:32046847C>T	ENST00000375244.3	-	11	4539	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	TNXB_ENST00000375247.2_Silent_p.G1446G			P22105	TENX_HUMAN	tenascin XB	1533					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACGCGCTGCCCCTCGTGGA	0.687000													44	190					0	0	0.002522	0	0
ENPP4	22875	broad.mit.edu	37	6	46107699	46107699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:46107699G>A	ENST00000321037.4	+	2	609	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	127						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TCAGCTTCAGGAAAACAGATC	0.418000													43	81					0	0	0.008740	0	0
FANCI	55215	broad.mit.edu	37	15	89848902	89848902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:89848902G>A	ENST00000310775.7	+	31	3408	c.3322G>A	c.(3322-3324)Gga>Aga	p.G1108R	FANCI_ENST00000300027.8_Missense_Mutation_p.G1048R	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1108					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGCTTAAGGGACAAGTGAG	0.433000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	56					0	0	0.007291	0	0
FLAD1	80308	broad.mit.edu	37	1	154956339	154956339	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:154956339C>T	ENST00000368433.1	+	1	512	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000292180.3_Silent_p.L57L|FLAD1_ENST00000315144.10_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	57					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGGACCCCCTGTTCCCAGG	0.627000													21	58					0	0	0.001523	0	0
SYTL2	54843	broad.mit.edu	37	11	85436401	85436401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:85436401G>A	ENST00000359152.5	-	1	2670	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S	SYTL2_ENST00000354566.3_Missense_Mutation_p.P367S|SYTL2_ENST00000525423.1_Missense_Mutation_p.P367S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCATCCTGGGGAAAAAGCATA	0.493000													22	42					0	0	0.001523	0	0
TEKT5	146279	broad.mit.edu	37	16	10721525	10721525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:10721525G>A	ENST00000283025.2	-	7	1444	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	458					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GAGGGTGTTGGCCTTGATGGC	0.657000													27	47					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9046526	9046526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9046526G>A	ENST00000397910.4	-	5	35308	c.35105C>T	c.(35104-35106)tCc>tTc	p.S11702F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11704	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						GGTTGTTCTGGAAACAGGTGT	0.507000													48	83					0	0	0.003610	0	0
SYNJ2	8871	broad.mit.edu	37	6	158509751	158509751	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:158509751C>G	ENST00000355585.4	+	24	3478	c.3403C>G	c.(3403-3405)Cag>Gag	p.Q1135E	SYNJ2_ENST00000367122.2_Missense_Mutation_p.Q1090E|SYNJ2_ENST00000367121.3_Missense_Mutation_p.Q1135E|SYNJ2_ENST00000367112.1_Missense_Mutation_p.Q220E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1135							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CACCCATGGACAGTATTCAAT	0.502000													47	91					0	0	0.003610	0	0
VWA9	81556	broad.mit.edu	37	15	65890674	65890674	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:65890674T>A	ENST00000395644.4	-	6	1068	c.733A>T	c.(733-735)Aaa>Taa	p.K245*	VWA9_ENST00000420799.2_Nonsense_Mutation_p.K188*|VWA9_ENST00000313182.2_Nonsense_Mutation_p.K245*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.K196*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.K166*|VWA9_ENST00000567744.1_Nonsense_Mutation_p.K281*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.K209*					von Willebrand factor A domain containing 9																		TTAATGACTTTAGGGATAGGA	0.373000													11	44					0	0	0.001368	0	0
NCAM1	4684	broad.mit.edu	37	11	113102975	113102975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:113102975C>T	ENST00000316851.7	+	10	1294	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	NCAM1_ENST00000533760.1_Missense_Mutation_p.P314S|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.P441S	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	442	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTTGCCTATCCCAGTGCCAC	0.517000													17	15					0	0	0.004007	0	0
CD320	51293	broad.mit.edu	37	19	8367827	8367827	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:8367827G>A	ENST00000301458.5	-	4	604	c.540C>T	c.(538-540)acC>acT	p.T180T	CD320_ENST00000537716.2_Silent_p.T138T	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	180					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GGGGCCCCATGGTTGTGGCAT	0.602000													15	20					0	0	0.004007	0	0
CC2D2A	57545	broad.mit.edu	37	4	15558949	15558949	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:15558949A>G	ENST00000424120.1	+	21	2902	c.2648A>G	c.(2647-2649)tAt>tGt	p.Y883C	CC2D2A_ENST00000413206.1_Missense_Mutation_p.Y883C|CC2D2A_ENST00000503292.1_Missense_Mutation_p.Y883C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.Y834C			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	883					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGTGAATCCTATGTCCCTGAT	0.393000													15	46					0	0	0.004990	0	0
KCNH8	131096	broad.mit.edu	37	3	19295239	19295239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:19295239G>A	ENST00000328405.2	+	2	436	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	57	PAS.					integral to membrane	two-component sensor activity	p.R57Q(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGATTTGCCCGAACTGAAGTC	0.458000													81	133					0	0	0.003610	0	0
TAT	6898	broad.mit.edu	37	16	71610158	71610158	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:71610158T>C	ENST00000355962.4	-	2	294	c.161A>G	c.(160-162)aAc>aGc	p.N54S	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	54					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.N54S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCGGATGGGGTTGAAAGTTTT	0.507000													10	26					0	0	0.008291	0	0
RASSF5	83593	broad.mit.edu	37	1	206711522	206711522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:206711522C>T	ENST00000338603.2	+	2	536	c.479C>T	c.(478-480)cCa>cTa	p.P160L	RASSF5_ENST00000367117.3_Missense_Mutation_p.P160L|RASSF5_ENST00000355294.4_Missense_Mutation_p.P160L	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	160					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTGTCACCCAGAATGCCGC	0.532000													30	173					0	0	0.001786	0	0
KIF23	9493	broad.mit.edu	37	15	69733239	69733239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:69733239C>T	ENST00000260363.4	+	18	2317	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	KIF23_ENST00000352331.4_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.P734S|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	734					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	p.P734S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GCAGAAAATTCCTACGTACAA	0.502000													21	19					0	0	0.001882	0	0
ZNF827	152485	broad.mit.edu	37	4	146770626	146770626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:146770626G>A	ENST00000508784.1	-	6	2296	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L	ZNF827_ENST00000513320.1_Missense_Mutation_p.P340L|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Missense_Mutation_p.P690L			Q17R98	ZN827_HUMAN	zinc finger protein 827	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTCCGGCTGGGTGATATCGA	0.507000													38	79					0	0	0.008740	0	0
LBP	3929	broad.mit.edu	37	20	36997662	36997662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:36997662G>A	ENST00000217407.2	+	10	1166	c.1005G>A	c.(1003-1005)atG>atA	p.M335I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	335					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACCCCAACATGAACCTGGAAC	0.507000													38	66					0	0	0.004878	0	0
PTPRB	5787	broad.mit.edu	37	12	70949780	70949780	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:70949780C>T	ENST00000334414.6	-	19	4907	c.4863G>A	c.(4861-4863)ctG>ctA	p.L1621L	PTPRB_ENST00000550857.1_Silent_p.L1313L|PTPRB_ENST00000550358.1_Silent_p.L1533L|PTPRB_ENST00000538708.1_Silent_p.L1313L|PTPRB_ENST00000451516.2_Silent_p.L1313L|PTPRB_ENST00000261266.5_Silent_p.L1403L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1403					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)			TTTCTTTCTCCAGCTTTCTGG	0.478000													17	45					0	0	0.008871	0	0
CDH23	64072	broad.mit.edu	37	10	73491806	73491806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:73491806G>A	ENST00000224721.6	+	31	3798	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1260	Cadherin 12.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGAGATTGACGAGAGCACAGG	0.562000													8	17					0	0	0.003080	0	0
DCBLD1	285761	broad.mit.edu	37	6	117853555	117853555	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117853555G>A	ENST00000338728.5	+	6	838	c.719_splice	c.e6+1	p.D240_splice	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Splice_Site_p.D240_splice|DCBLD1_ENST00000368503.4_Splice_Site_p.D240_splice			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	240	LCCL.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCTTTCGAGGGAGTAAGTATT	0.423000													9	14					0	0	0.006214	0	0
KLHL13	90293	broad.mit.edu	37	X	117053560	117053560	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:117053560T>C	ENST00000371876.1	-	3	2762	c.341A>G	c.(340-342)cAa>cGa	p.Q114R	KLHL13_ENST00000539496.1_Missense_Mutation_p.Q168R|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q114R|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q149R|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q123R|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q114R|KLHL13_ENST00000262820.3_Missense_Mutation_p.Q165R|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q114R|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q149R			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	165	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGCGTGTCTTGAAGGTTGTC	0.363000													43	15					0	0	0.008740	0	0
PGK2	5232	broad.mit.edu	37	6	49753680	49753680	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:49753680G>A	ENST00000304801.3	-	1	1373	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	407					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCAGGAAGGATTTTACCTT	0.458000													35	67					0	0	0.003271	0	0
ZNF148	7707	broad.mit.edu	37	3	124951260	124951260	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:124951260G>A	ENST00000360647.4	-	9	2795	c.2310C>T	c.(2308-2310)ccC>ccT	p.P770P	ZNF148_ENST00000485866.1_Silent_p.P770P|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Silent_p.P107P|ZNF148_ENST00000492394.1_Silent_p.P770P|ZNF148_ENST00000484491.1_Silent_p.P770P|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Silent_p.P120P	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	770					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CATTCACCAAGGGAAATTCTG	0.403000													19	12					0	0	0.001523	0	0
HEY2	23493	broad.mit.edu	37	6	126080793	126080793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:126080793C>T	ENST00000368364.3	+	5	1056	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	HEY2_ENST00000368365.1_Missense_Mutation_p.P241S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	287	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGCATTCCCCATGCTTCC	0.667000													55	130					0	0	0.003610	0	0
PDX1	3651	broad.mit.edu	37	13	28498646	28498646	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:28498646C>T	ENST00000381033.4	+	2	779	c.660C>T	c.(658-660)gtC>gtT	p.V220V		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	220					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GTGGCGGGGTCGCGGAGCCTG	0.701000													77	58					0	0	0.003610	0	0
P2RX3	5024	broad.mit.edu	37	11	57115696	57115696	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:57115696G>A	ENST00000263314.2	+	5	478	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	148					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GGACCTGTGAGATCCAGGGCT	0.622000													8	20					0	0	0.000978	0	0
DSC2	1824	broad.mit.edu	37	18	28669455	28669455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28669455C>T	ENST00000280904.6	-	5	1020	c.577G>A	c.(577-579)Gga>Aga	p.G193R	DSC2_ENST00000251081.6_Missense_Mutation_p.G193R	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	193	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TACAAGTTTCCAGTGTCTCTC	0.398000													20	46					0	0	0.005443	0	0
C1RL	51279	broad.mit.edu	37	12	7249655	7249655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7249655C>T	ENST00000266542.4	-	6	888	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Silent_p.T281T|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	266	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCCACGGCCGTGGATACTG	0.617000													17	27					0	0	0.006122	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201725	21201725	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:21201725G>A	ENST00000342679.4	+	2	299	c.49_splice	c.e2-1	p.G17_splice	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	17					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCATTCTAGGAAAATCCAAG	0.577000													55	217					0	0	0.003610	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200472	92200472	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:92200472G>A	ENST00000212355.4	-	5	894	c.429C>T	c.(427-429)tcC>tcT	p.S143S	TGFBR3_ENST00000525962.1_Silent_p.S143S|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.S143S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	143					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTGCTGTCAAGGAGAAGTTTG	0.443000													29	75					0	0	0.001786	0	0
DDX1	1653	broad.mit.edu	37	2	15770985	15770985	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:15770985C>T	ENST00000381341.2	+	27	2567	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	DDX1_ENST00000233084.3_Silent_p.F726F			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	726	Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGACATCTTTCCTGCATCTTG	0.418000													56	32					0	0	0.003610	0	0
KIF1A	547	broad.mit.edu	37	2	241689893	241689893	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:241689893T>G	ENST00000498729.2	-	28	3176	c.2930A>C	c.(2929-2931)aAg>aCg	p.K977T	KIF1A_ENST00000320389.7_Missense_Mutation_p.K876T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	876					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCTCGCCCTTCTCGCTGAC	0.657000													17	14					0	0	0.006122	0	0
ZNF283	284349	broad.mit.edu	37	19	44352446	44352446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:44352446C>T	ENST00000324461.7	+	7	1990	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H426Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCAGAAAATTCATACCGGTGA	0.418000													22	34					0	0	0.001882	0	0
GJB6	10804	broad.mit.edu	37	13	20797125	20797125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:20797125C>T	ENST00000356192.6	-	5	1115	c.495G>A	c.(493-495)tgG>tgA	p.W165*	GJB6_ENST00000241124.6_Nonsense_Mutation_p.W165*|GJB6_ENST00000400065.3_Nonsense_Mutation_p.W165*|GJB6_ENST00000400066.3_Nonsense_Mutation_p.W165*	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	165					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		ATTTCAACACCCAGGGCAGGT	0.448000													12	16					0	0	0.001855	0	0
DMXL2	23312	broad.mit.edu	37	15	51791231	51791231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:51791231C>T	ENST00000251076.5	-	18	4477	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1397Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1397						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R1397Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACTAATAGTTCGAGAGAGATG	0.413000													65	175					0	0	0.003610	0	0
MAPT	4137	broad.mit.edu	37	17	44060587	44060587	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:44060587G>A	ENST00000344290.5	+	6	739	c.417G>A	c.(415-417)gaG>gaA	p.E139E	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000262410.5_Silent_p.E139E|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Silent_p.E139E|MAPT_ENST00000571987.1_Silent_p.E139E|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	139					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCCTCCGAGAGCCAGGCCCCC	0.667000													6	7					0	0	0.003080	0	0
BAAT	570	broad.mit.edu	37	9	104125033	104125033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:104125033G>A	ENST00000259407.2	-	4	1042	c.934C>T	c.(934-936)Cct>Tct	p.P312S	BAAT_ENST00000395051.3_Missense_Mutation_p.P312S	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	312					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTTCAATAGGAAACAAATAT	0.453000													40	39					0	0	0.002522	0	0
UBE3B	89910	broad.mit.edu	37	12	109928861	109928861	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:109928861C>T	ENST00000342494.3	+	9	1237	c.642C>T	c.(640-642)acC>acT	p.T214T	UBE3B_ENST00000280774.5_Silent_p.T214T|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000434735.2_Silent_p.T214T|UBE3B_ENST00000537063.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	214					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TATTGTTAACCCGTGGCCTGG	0.393000													20	24					0	0	0.001882	0	0
NUP107	57122	broad.mit.edu	37	12	69136224	69136224	+	Silent	SNP	G	G	A	rs141296706		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:69136224G>A	ENST00000229179.4	+	28	3092	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G	NUP107_ENST00000378905.2_Silent_p.G681G|NUP107_ENST00000539906.1_Silent_p.G891G	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	920					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCCATTAGGGTATGAAATTC	0.308000													21	48					0	0	0.002780	0	0
FLT4	2324	broad.mit.edu	37	5	180056974	180056974	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:180056974G>A	ENST00000261937.6	-	5	723	c.645C>T	c.(643-645)ttC>ttT	p.F215F	FLT4_ENST00000393347.3_Silent_p.F215F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F215F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	215					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGTTGGAAAGGAAGTCCTGGT	0.632000													16	33					0	0	0.004990	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058565	79058565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:79058565G>A	ENST00000388820.4	-	19	3898	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1230					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCAGGTGGGGTGCTCCTCGG	0.647000													16	35					0	0	0.007413	0	0
ADAD2	161931	broad.mit.edu	37	16	84229830	84229830	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84229830C>T	ENST00000268624.3	+	9	1719	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	ADAD2_ENST00000315906.5_Silent_p.V460V|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	460	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTCCCTACGTCCGGACCGCCC	0.697000													22	60					0	0	0.003330	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083719	107083719	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:107083719G>A	ENST00000455737.1	-	0	6																											CTCTCAGAAAGTATTTCCCAT	0.488000													6	5					0	0	0.001168	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433735	73433735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:73433735G>A	ENST00000263666.4	-	10	2096	c.1982C>T	c.(1981-1983)cCt>cTt	p.P661L	PDZRN3_ENST00000479530.1_Missense_Mutation_p.P378L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P318L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P383L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P318L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	661							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CAGGCCGTAAGGGGTGGCGCT	0.667000													26	51					0	0	0.005443	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813680	100813680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:100813680G>A	ENST00000323346.5	+	12	1826	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E455K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	505					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGCTTCTGGGGAGAAACAGGA	0.473000													33	68					0	0	0.003271	0	0
FLG	2312	broad.mit.edu	37	1	152284451	152284451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152284451G>A	ENST00000368799.1	-	3	2946	c.2911C>T	c.(2911-2913)Cgt>Tgt	p.R971C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	971	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R971C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGATCCACGATGGTTTCTG	0.577000									Ichthyosis				189	311					0	0	0.003610	0	0
KCNH4	23415	broad.mit.edu	37	17	40315269	40315269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:40315269G>A	ENST00000264661.3	-	14	2893	c.2561C>T	c.(2560-2562)cCc>cTc	p.P854L	KCNH4_ENST00000607371.1_Missense_Mutation_p.P854L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	854					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGGGAGCGGGGCCTTGGCAG	0.597000													22	42					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9064386	9064386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9064386G>A	ENST00000397910.4	-	3	23263	c.23060C>T	c.(23059-23061)cCa>cTa	p.P7687L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7689	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						CGGGGAGGATGGAGGGCTGGT	0.552000													18	40					0	0	0.006122	0	0
PSAT1	29968	broad.mit.edu	37	9	80923395	80923395	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:80923395C>T	ENST00000376588.3	+	6	704	c.636C>T	c.(634-636)gtC>gtT	p.V212V	PSAT1_ENST00000347159.2_Silent_p.V212V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	212					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGGTGATTGTCCGTGATGACC	0.517000													26	24					0	0	0.001786	0	0
PKP2	5318	broad.mit.edu	37	12	32975492	32975492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:32975492G>A	ENST00000340811.4	-	8	1856	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	PKP2_ENST00000070846.6_Missense_Mutation_p.S627F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	627					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GATATTCTGGGAATATTTCTC	0.413000													24	38					0	0	0.002299	0	0
TAF15	8148	broad.mit.edu	37	17	34144726	34144726	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:34144726G>T	ENST00000588240.1	+	2	129	c.14G>T	c.(13-15)gGa>gTa	p.G5V	AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.G5V|TAF15_ENST00000592237.1_5'UTR	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	5	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CTAGATTCTGGAAGTTACGGT	0.333000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								20	41					1.56452e-12	1.88291e-12	0.007413	1	0
VEGFC	7424	broad.mit.edu	37	4	177608419	177608419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:177608419C>T	ENST00000280193.2	-	6	1482	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	356	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACATTTTCCAGGATTTAG	0.438000													51	132					0	0	0.003610	0	0
HYAL4	23553	broad.mit.edu	37	7	123509239	123509239	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:123509239A>G	ENST00000223026.4	+	3	1550	c.912A>G	c.(910-912)acA>acG	p.T304T	HYAL4_ENST00000476325.1_Silent_p.T304T	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	304					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTGTCTACACAAGGCTAGGGT	0.413000													9	29					0	0	0.004482	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316508	38316508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38316508G>A	ENST00000450935.2	+	3	466	c.388G>A	c.(388-390)Gac>Aac	p.D130N	SLC22A13_ENST00000311856.4_Silent_p.R222R			Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	0						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CCTCATGGAGGACGCAGGCCG	0.597000													41	82					0	0	0.008740	0	0
DNAH17	8632	broad.mit.edu	37	17	76482050	76482050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:76482050G>A	ENST00000389840.5	-	46	7349	c.7225C>T	c.(7225-7227)Cca>Tca	p.P2409S	DNAH17_ENST00000585328.1_Missense_Mutation_p.P2418S|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCTGCAGTGGGACATCGGGA	0.527000													14	36					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92577503	92577503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:92577503C>T	ENST00000298047.6	+	18	10987	c.10970C>T	c.(10969-10971)tCc>tTc	p.S3657F	FAT3_ENST00000409404.2_Missense_Mutation_p.S3657F|FAT3_ENST00000525166.1_Missense_Mutation_p.S3507F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3657					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAAATGTGTCCCCTGAGGAC	0.572000										TCGA Ovarian(4;0.039)			165	328					0	0	0.003610	0	0
CDK13	8621	broad.mit.edu	37	7	40041576	40041576	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:40041576A>T	ENST00000181839.4	+	5	2904	c.2299A>T	c.(2299-2301)Atg>Ttg	p.M767L	CDK13_ENST00000340829.5_Missense_Mutation_p.M767L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	767	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATTATCAATATGAAGGAAAT	0.323000													19	97					0	0	0.007413	0	0
RBBP6	5930	broad.mit.edu	37	16	24573272	24573272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:24573272C>T	ENST00000319715.4	+	10	1511	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	RBBP6_ENST00000348022.2_Missense_Mutation_p.S360F|RBBP6_ENST00000381039.3_Missense_Mutation_p.S360F	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	360					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTGATGAGATCTCCGATATCA	0.443000													23	66					0	0	0.001882	0	0
SREBF2	6721	broad.mit.edu	37	22	42280955	42280955	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:42280955C>T	ENST00000361204.4	+	11	2314	c.2148C>T	c.(2146-2148)atC>atT	p.I716I		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	716					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGGTTGAGATCCATCTGACTG	0.587000													12	36					0	0	0.002450	0	0
CCDC8	83987	broad.mit.edu	37	19	46915445	46915445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:46915445C>T	ENST00000307522.3	-	1	1396	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	208						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCACCCTCCGCTTCAGCTT	0.692000													8	19					0	0	0.003080	0	0
CHRM3	1131	broad.mit.edu	37	1	240072236	240072236	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240072236G>A	ENST00000255380.4	+	5	2264	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	495					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCCTCAGTGCGATCTTGCTTG	0.498000													72	91					0	0	0.003610	0	0
CA10	56934	broad.mit.edu	37	17	49731087	49731087	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:49731087A>C	ENST00000451037.2	-	5	1416	c.476T>G	c.(475-477)aTc>aGc	p.I159S	CA10_ENST00000570565.1_Missense_Mutation_p.I84S|CA10_ENST00000442502.2_Missense_Mutation_p.I159S|CA10_ENST00000285273.4_Missense_Mutation_p.I159S|CA10_ENST00000340813.6_Missense_Mutation_p.I165S|CA10_ENST00000571918.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	159					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTTATAGTGGATGAGCTGCAC	0.408000													11	33					0	0	0.000978	0	0
LDB2	9079	broad.mit.edu	37	4	16510176	16510176	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:16510176A>G	ENST00000502640.1	-	7	1021	c.873T>C	c.(871-873)agT>agC	p.S291S	LDB2_ENST00000503178.2_Silent_p.S167S|LDB2_ENST00000515064.1_Silent_p.S291S|LDB2_ENST00000441778.2_Silent_p.S291S|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000304523.5_Silent_p.S291S			O43679	LDB2_HUMAN	LIM domain binding 2	291							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GACTGGACAGACTCAGGTTTG	0.478000													26	42					0	0	0.005443	0	0
IGHG3	3502	broad.mit.edu	37	14	106237454	106237454	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106237454C>T	ENST00000390551.2	-	0	288																											CTCACCAACTCTCTTGTCCAC	0.647000													24	41					0	0	0.003755	0	0
KIAA1549	57670	broad.mit.edu	37	7	138596019	138596019	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:138596019G>A	ENST00000440172.1	-	4	3066	c.3018C>T	c.(3016-3018)ttC>ttT	p.F1006F	KIAA1549_ENST00000242365.4_Silent_p.F956F|KIAA1549_ENST00000422774.1_Silent_p.F1006F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1006						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGTGTAAACGAAAGGACCGG	0.383000			O	BRAF	pilocytic astrocytoma								7	9					0	0	0.003080	0	0
TRHDE	29953	broad.mit.edu	37	12	73012732	73012732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:73012732G>A	ENST00000261180.4	+	13	2344	c.2248G>A	c.(2248-2250)Gat>Aat	p.D750N	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	750					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGAGGAGAAGGATTTTCTTCC	0.378000													20	53					0	0	0.002299	0	0
ABCG1	9619	broad.mit.edu	37	21	43646014	43646014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:43646014G>A	ENST00000398457.2	+	3	542	c.282G>A	c.(280-282)tgG>tgA	p.W94*	ABCG1_ENST00000361802.2_Nonsense_Mutation_p.W92*|ABCG1_ENST00000398449.3_Nonsense_Mutation_p.W92*|ABCG1_ENST00000347800.2_Nonsense_Mutation_p.W89*|ABCG1_ENST00000343687.3_Nonsense_Mutation_p.W103*|ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	92	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GACCCTGGTGGAGGAAGAAAG	0.562000													43	99					0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825806	146825806	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:146825806T>A	ENST00000361727.3	+	7	1477	c.961T>A	c.(961-963)Ttc>Atc	p.F321I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	321	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGCATCCCTTTCTCTGGCAA	0.393000										HNSCC(39;0.1)			31	76					0	0	0.002096	0	0
OR51G1	79324	broad.mit.edu	37	11	4945490	4945490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4945490C>T	ENST00000321961.2	-	1	147	c.80G>A	c.(79-81)gGc>gAc	p.G27D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGATCCAGCCATGGAGACC	0.473000													11	22					0	0	0.008291	0	0
OBSCN	84033	broad.mit.edu	37	1	228505630	228505630	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:228505630C>T	ENST00000570156.2	+	64	16832	c.16758C>T	c.(16756-16758)gcC>gcT	p.A5586A	OBSCN_ENST00000284548.11_Silent_p.A4629A|OBSCN_ENST00000366709.4_Silent_p.A1748A|OBSCN_ENST00000422127.1_Silent_p.A4629A|OBSCN_ENST00000366707.4_Silent_p.A2263A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4629					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCCTCAGCCCCTGAGAGCC	0.637000													27	40					0	0	0.003271	0	0
SHISA3	152573	broad.mit.edu	37	4	42403192	42403192	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:42403192C>T	ENST00000319234.4	+	2	659	c.441C>T	c.(439-441)ccC>ccT	p.P147P		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	147					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						AGACCCTGCCCATGATCCTGA	0.607000													72	207					0	0	0.003610	0	0
FUT7	2529	broad.mit.edu	37	9	139925167	139925167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:139925167C>T	ENST00000314412.6	-	2	2042	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	342					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGATCTCAGGCCTGAAACCAA	0.617000													8	10					0	0	0.006214	0	0
PITPNM2	57605	broad.mit.edu	37	12	123519106	123519106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:123519106G>A	ENST00000280562.5	-	2	237	c.32C>T	c.(31-33)cCa>cTa	p.P11L	PITPNM2_ENST00000546049.1_Missense_Mutation_p.P11L|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P11L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P11L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P11L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	11					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CACGGTCATTGGCAGAGGAAT	0.552000													34	76					0	0	0.005524	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353667	47353667	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:47353667T>C	ENST00000399249.2	-	32	3824	c.3770A>G	c.(3769-3771)aAc>aGc	p.N1257S	MYBPC3_ENST00000545968.1_Missense_Mutation_p.N1257S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.N1256S			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1256	Ig-like C2-type 7.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCCCTGTAAGTTGGTGGCCCT	0.652000													13	37					0	0	0.001368	0	0
DCC	1630	broad.mit.edu	37	18	50432669	50432669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:50432669G>A	ENST00000442544.2	+	3	1284	c.668G>A	c.(667-669)gGa>gAa	p.G223E	DCC_ENST00000412726.1_Missense_Mutation_p.G71E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	223	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAAGAACAGGAAATGAAGCA	0.428000													13	30					0	0	0.003163	0	0
TLR2	7097	broad.mit.edu	37	4	154625141	154625141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:154625141C>T	ENST00000260010.6	+	1	2490	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	361					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CATTTAAAATCATTAGAATAC	0.323000													15	31					0	0	0.003163	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173892	103173892	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:103173892C>T	ENST00000375735.2	+	76	11310	c.11166C>T	c.(11164-11166)ccC>ccT	p.P3722P	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.P3729P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3722	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAATTGAACCCATCTTGATAA	0.363000													20	25					0	0	0.008871	0	0
EPHA7	2045	broad.mit.edu	37	6	93967960	93967960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:93967960C>T	ENST00000369303.4	-	11	2151	c.1967G>A	c.(1966-1968)gGg>gAg	p.G656E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCTCTTTTCCCTGGAAGTTT	0.383000													45	125					0	0	0.003610	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427944	6427944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:6427944C>T	ENST00000449001.2	+	11	1707	c.1213C>T	c.(1213-1215)Ctc>Ttc	p.L405F	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L437F|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L437F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L437F	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	437					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTCTGATGTGCTCCTTGTGAC	0.642000													22	37					0	0	0.002299	0	0
CNTRL	11064	broad.mit.edu	37	9	123919771	123919771	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:123919771C>T	ENST00000373855.1	+	28	4649	c.4389C>T	c.(4387-4389)ttC>ttT	p.F1463F	CNTRL_ENST00000373847.1_Silent_p.F911F|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.F911F|CNTRL_ENST00000238341.5_Silent_p.F1463F			Q7Z7A1	CNTRL_HUMAN	centriolin	1463					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TTGAAAAGTTCACTGATGCCA	0.403000													12	18					0	0	0.001855	0	0
PARVB	29780	broad.mit.edu	37	22	44514984	44514984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:44514984G>A	ENST00000338758.6	+	4	403	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PARVB_ENST00000404989.1_Missense_Mutation_p.D77N|PARVB_ENST00000402876.3_Missense_Mutation_p.D114N|PARVB_ENST00000406477.3_Missense_Mutation_p.D147N	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	114	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCTGGAGGAAGACCTGTATGA	0.602000													44	106					0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75078435	75078435	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:75078435G>A	ENST00000326665.5	-	9	1277	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.F156F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGA	0.423000													19	36					0	0	0.008871	0	0
KCNV2	169522	broad.mit.edu	37	9	2718438	2718438	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:2718438C>T	ENST00000382082.3	+	1	937	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGAACTCTTCCGCGACATGC	0.682000													8	11					0	0	0.008291	0	0
TSPAN10	83882	broad.mit.edu	37	17	79609470	79609470	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:79609470C>T	ENST00000328585.4	+	0	122				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCTTACTGTCCCAGGTGAGC	0.642000													33	80					0	0	0.007835	0	0
XIRP1	165904	broad.mit.edu	37	3	39229895	39229895	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:39229895G>A	ENST00000340369.3	-	2	1270	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	XIRP1_ENST00000396251.1_Silent_p.L348L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	348							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCTCAAACAGATGCTGCTGC	0.602000													39	66					0	0	0.005524	0	0
KIF4B	285643	broad.mit.edu	37	5	154394968	154394968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:154394968C>T	ENST00000435029.4	+	1	1709	c.1549C>T	c.(1549-1551)Ctc>Ttc	p.L517F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	517					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGCATGCTCTCCATCAAGC	0.493000													21	27					0	0	0.008871	0	0
COL2A1	1280	broad.mit.edu	37	12	48375178	48375178	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:48375178C>T	ENST00000380518.3	-	37	2575	c.2409_splice	c.e37-1	p.G804_splice	COL2A1_ENST00000337299.6_Splice_Site_p.G735_splice|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	804	Triple-helical region.		G -> A (in hypochondrogenesis).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCAACTTCTCCCTGAGGGTG	0.652000													8	25					0	0	0.003080	0	0
TMEM104	54868	broad.mit.edu	37	17	72832438	72832438	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:72832438A>G	ENST00000335464.5	+	10	1265	c.1103A>G	c.(1102-1104)aAc>aGc	p.N368S	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.N368S	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	368						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ATCAGCACCAACTTCCCCATC	0.622000													52	119					0	0	0.003610	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60344541	60344541	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:60344541C>T	ENST00000581291.1	-	0	963																				breast(2)|kidney(1)|lung(2)	5						AACGCCTGTTCGCCTTCTACC	0.597000													93	189					0	0	0.003610	0	0
BNC1	646	broad.mit.edu	37	15	83926632	83926632	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:83926632G>A	ENST00000345382.2	-	5	2632	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.P842P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	849					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTCGCTCAAGGGGCCAGAGT	0.532000													27	56					0	0	0.005443	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249396	3249396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:3249396G>A	ENST00000389832.5	-	2	940	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	MRGPRE_ENST00000436689.2_Missense_Mutation_p.P211S|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	211						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCCCCGGGGTGGGGGCCGC	0.677000													3	7					0	0	0.004672	0	0
LCT	3938	broad.mit.edu	37	2	136575460	136575460	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:136575460G>A	ENST00000264162.2	-	6	1168	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	386	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.F386F(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACCCCAGAGGAAGCCTTCAG	0.597000													81	32					0	0	0.003610	0	0
GPR148	344561	broad.mit.edu	37	2	131486883	131486883	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131486883C>T	ENST00000309926.4	+	1	241	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	53				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACTGGCTTTTCCTTCCCTCAA	0.632000													32	18					0	0	0.002096	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444253	5444253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5444253C>T	ENST00000300778.4	+	1	913	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACTGGTCCATGTTATCAT	0.473000													29	54					0	0	0.005443	0	0
GALT	2592	broad.mit.edu	37	9	34647892	34647892	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:34647892C>T	ENST00000378842.3	+	5	483	c.441C>T	c.(439-441)atC>atT	p.I147I	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Silent_p.I38I	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	147					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCCCTGAGATCCGGGCTGTTG	0.592000									Galactosemia				26	53					0	0	0.004656	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200473	92200473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:92200473G>A	ENST00000212355.4	-	5	893	c.428C>T	c.(427-429)tCc>tTc	p.S143F	TGFBR3_ENST00000525962.1_Missense_Mutation_p.S143F|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S143F	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	143					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGCTGTCAAGGAGAAGTTTGC	0.438000													29	73					0	0	0.001786	0	0
PKP2	5318	broad.mit.edu	37	12	32955454	32955454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:32955454C>T	ENST00000340811.4	-	10	2158	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	PKP2_ENST00000070846.6_Missense_Mutation_p.E728K	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	728					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGGCCACTTTCCTTCTGGACA	0.453000													42	95					0	0	0.002852	0	0
RP1L1	94137	broad.mit.edu	37	8	10468037	10468037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10468037C>T	ENST00000382483.3	-	4	3794	c.3571G>A	c.(3571-3573)Gag>Aag	p.E1191K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1191					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGAAGTTCTCCGTCATGGCA	0.627000													11	20					0	0	0.001368	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213760	3213760	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:3213760C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							TGGCGGCCATCCTTATGGAAA	0.547000													25	44					0	0	0.003954	0	0
XYLT2	64132	broad.mit.edu	37	17	48434518	48434518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:48434518G>A	ENST00000017003.2	+	9	1895	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	XYLT2_ENST00000507602.1_Missense_Mutation_p.G616R	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	616					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CTCAGCCCAGGGGCCGGCAGA	0.647000													13	20					0	0	0.002450	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060247	35060247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:35060247G>A	ENST00000373913.3	+	3	607	c.127G>A	c.(127-129)Gag>Aag	p.E43K	DLGAP4_ENST00000401952.2_Missense_Mutation_p.E43K|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E43K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E43K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	43					cell-cell signaling	membrane	protein binding	p.E43K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCGCCCGCGAGGCCCGCTT	0.687000													16	26					0	0	0.004990	0	0
MYH1	4619	broad.mit.edu	37	17	10419600	10419600	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10419600G>A	ENST00000226207.5	-	4	358	c.264C>T	c.(262-264)atC>atT	p.I88I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	88	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCATGTCCTCGATCTTGTCAT	0.478000													50	55					0	0	0.003610	0	0
OR13C3	138803	broad.mit.edu	37	9	107298193	107298193	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:107298193T>A	ENST00000374781.2	-	1	944	c.902A>T	c.(901-903)gAa>gTa	p.E301V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTGCAATTTTTCTTCCCCAAT	0.403000													40	22					0	0	0.006999	0	0
EPHA7	2045	broad.mit.edu	37	6	93956522	93956522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:93956522C>T	ENST00000369303.4	-	15	2898	c.2714G>A	c.(2713-2715)gGa>gAa	p.G905E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	905						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTACAAGTTCCCAGGGGAGT	0.403000													23	62					0	0	0.006320	0	0
CFHR5	81494	broad.mit.edu	37	1	196967406	196967406	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196967406G>A	ENST00000367414.5	+	7	1247	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	CFHR5_ENST00000256785.4_Silent_p.G373G	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	373	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTATAAACGGGAAATGGAATC	0.323000													13	57					0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	89949605	89949605	+	Missense_Mutation	SNP	C	C	T	rs41305898		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:89949605C>T	ENST00000405460.2	+	20	4310	c.4214C>T	c.(4213-4215)tCc>tTc	p.S1405F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1405					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)		ACCTTGGGTTCCAATGCTACA	0.378000													10	24					0	0	0.008291	0	0
TMEM196	256130	broad.mit.edu	37	7	19765245	19765245	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:19765245G>A	ENST00000405844.1	-	3	1046	c.351C>T	c.(349-351)ggC>ggT	p.G117G	TMEM196_ENST00000405764.3_Silent_p.G117G|TMEM196_ENST00000493519.1_Silent_p.G49G|TMEM196_ENST00000433641.1_Silent_p.G49G|TMEM196_ENST00000422233.1_Silent_p.G49G			Q5HYL7	TM196_HUMAN	transmembrane protein 196	123						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						AGAGAGTGCAGCCCCCGATCC	0.517000													22	95					0	0	0.002299	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900428	151900428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:151900428G>A	ENST00000393900.3	-	3	726	c.373C>T	c.(373-375)Cga>Tga	p.R125*	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Nonsense_Mutation_p.R125*|MAGEA12_ENST00000357916.4_Nonsense_Mutation_p.R125*	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	125	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGGCTCGATACTTGAGG	0.498000													46	30					0	0	0.003610	0	0
TAAR2	9287	broad.mit.edu	37	6	132939139	132939139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132939139G>A	ENST00000275191.2	-	1	178	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TAAR2_ENST00000367931.1_Missense_Mutation_p.S69F|TAAR2_ENST00000537809.1_Missense_Mutation_p.S24F	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	69						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CTTGAAGTAGGAAATGGAAAT	0.423000													21	40					0	0	0.001882	0	0
LRGUK	136332	broad.mit.edu	37	7	133812131	133812131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:133812131C>T	ENST00000285928.2	+	1	80	c.11C>T	c.(10-12)tCc>tTc	p.S4F	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	4							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATGGCGACCTCCGAGAGGGCT	0.612000													26	78					0	0	0.007291	0	0
NDRG2	57447	broad.mit.edu	37	14	21491038	21491038	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21491038G>A	ENST00000556147.1	-	3	1042	c.102C>T	c.(100-102)ctC>ctT	p.L34L	NDRG2_ENST00000397847.2_Silent_p.L34L|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000397858.1_Silent_p.L34L|NDRG2_ENST00000397853.3_Silent_p.L34L|NDRG2_ENST00000555158.1_Intron|NDRG2_ENST00000403829.3_Intron|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000360463.3_Intron|NDRG2_ENST00000554143.1_Intron|NDRG2_ENST00000350792.3_Intron|NDRG2_ENST00000298687.5_Silent_p.L34L|NDRG2_ENST00000553503.1_Intron|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397851.2_Silent_p.L34L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	34					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCTGGTCCAGGAGGATTCGGG	0.572000													7	16					0	0	0.004482	0	0
ERF	2077	broad.mit.edu	37	19	42753410	42753410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:42753410G>A	ENST00000222329.4	-	4	1011	c.854C>T	c.(853-855)cCg>cTg	p.P285L	ERF_ENST00000440177.2_Missense_Mutation_p.P210L|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	285					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGGTACATCGGGCTCAGCGT	0.697000													13	16					0	0	0.001368	0	0
NUGGC	389643	broad.mit.edu	37	8	27925067	27925067	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:27925067G>A	ENST00000413272.2	-	6	817	c.675C>T	c.(673-675)atC>atT	p.I225I	NUGGC_ENST00000341513.6_Silent_p.I225I	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		TGGAGGTGGGGATCTTCCTTT	0.483000													7	15					0	0	0.001984	0	0
XKR6	286046	broad.mit.edu	37	8	10756149	10756149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10756149C>T	ENST00000416569.2	-	3	1265	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*	XKR6_ENST00000304437.2_Nonsense_Mutation_p.W134*	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	413						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCCTCCCACTTGGACA	0.488000													14	25					0	0	0.002450	0	0
KIN	22944	broad.mit.edu	37	10	7820848	7820848	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:7820848T>C	ENST00000379562.3	-	5	558	c.511A>G	c.(511-513)Aaa>Gaa	p.K171E	KIN_ENST00000543003.1_Missense_Mutation_p.K65E|KIN_ENST00000535925.1_Missense_Mutation_p.K171E			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	171					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCAATAAATTTGGCAGTTTTT	0.453000													73	87					0	0	0.003610	0	0
ADAM7	8756	broad.mit.edu	37	8	24346820	24346820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24346820G>A	ENST00000175238.6	+	12	1323	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	ADAM7_ENST00000520720.1_Missense_Mutation_p.E186K|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E414K|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	414	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGATGAGGGTGAAGAGTGTGA	0.393000													9	31					0	0	0.006214	0	0
DPT	1805	broad.mit.edu	37	1	168698368	168698368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:168698368C>T	ENST00000367817.3	-	1	134	c.45G>A	c.(43-45)atG>atA	p.M15I		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	15					cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GGCCCCAGGCCATGGTGACTA	0.512000													9	37					0	0	0.004482	0	0
LCE3D	84648	broad.mit.edu	37	1	152552221	152552221	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152552221C>T	ENST00000368787.3	-	2	248	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	64					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCCTCTGGCGCCGGCATCGGT	0.682000													79	94					0	0	0.003610	0	0
AQP9	366	broad.mit.edu	37	15	58467217	58467217	+	Silent	SNP	G	G	A	rs140673133	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:58467217G>A	ENST00000219919.4	+	4	847	c.477G>A	c.(475-477)gcG>gcA	p.A159A	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.A94A|AQP9_ENST00000536493.1_Silent_p.A159A	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	159					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.A159A(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATCTCTGGCGAACGCATTTG	0.418000													29	64					0	0	0.008361	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130769216	130769216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:130769216G>A	ENST00000509018.1	-	25	4086	c.3881C>T	c.(3880-3882)tCc>tTc	p.S1294F	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1302F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1344F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1302F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1307F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1294	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGCCTGAGAGGAACACCGTTC	0.517000													19	22					0	0	0.008871	0	0
MROH2B	133558	broad.mit.edu	37	5	41004579	41004579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:41004579G>A	ENST00000399564.4	-	37	4513	c.4063C>T	c.(4063-4065)Cac>Tac	p.H1355Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.H910Y	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CGAGCTAGGTGATACAGGCCT	0.403000													16	55					0	0	0.004990	0	0
TLR7	51284	broad.mit.edu	37	X	12903932	12903932	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:12903932C>G	ENST00000380659.3	+	3	444	c.305C>G	c.(304-306)cCt>cGt	p.P102R		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	102					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AACTGTGTACCTATTCCACTG	0.448000													6	77					0	0	0.001168	0	0
NLRP4	147945	broad.mit.edu	37	19	56369320	56369320	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56369320T>A	ENST00000301295.6	+	3	983	c.561T>A	c.(559-561)taT>taA	p.Y187*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Y112*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Y187*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	187	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACACGTTCTATTTCTGCTGCA	0.502000													48	91					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179610475	179610475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179610475C>T	ENST00000360870.5	-	46	16874	c.16652G>A	c.(16651-16653)gGa>gAa	p.G5551E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9021	Ig-like 36.						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)			GACTAATTTTCCATCTTTGTA	0.413000													54	27					0	0	0.003610	0	0
ZNF184	7738	broad.mit.edu	37	6	27419353	27419353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:27419353C>T	ENST00000211936.6	-	6	2269	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	ZNF184_ENST00000377419.1_Missense_Mutation_p.R662Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTGTGAATTCGTTGATGCTG	0.428000													25	116					0	0	0.005443	0	0
OR8B4	283162	broad.mit.edu	37	11	124294506	124294506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:124294506C>T	ENST00000356130.3	-	1	283	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATGATACTTTCTGAAACAAAG	0.388000													21	18					0	0	0.001882	0	0
BCL11A	53335	broad.mit.edu	37	2	60688537	60688537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:60688537C>T	ENST00000335712.6	-	4	1737	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	BCL11A_ENST00000538214.1_Missense_Mutation_p.E470K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.E470K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E504K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E173K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	504	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCCGTCAGctcctcctcctcc	0.667000			T	IGH@	B-CLL								86	47					0	0	0.003610	0	0
ZFHX3	463	broad.mit.edu	37	16	72827743	72827743	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:72827743C>T	ENST00000268489.5	-	9	9510	c.8838G>A	c.(8836-8838)caG>caA	p.Q2946Q	ZFHX3_ENST00000397992.5_Silent_p.Q2032Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2946					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAAACGTTTCTGCCCAGGCC	0.527000													24	67					0	0	0.003330	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232539242	232539242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:232539242G>A	ENST00000366630.1	-	20	5250	c.4892C>T	c.(4891-4893)cCc>cTc	p.P1631L	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P687L|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1631L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1631					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACACATAAGGGCAGCTCTTG	0.577000													29	104					0	0	0.005443	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256934	24256934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24256934G>A	ENST00000538205.1	+	11	1268	c.721G>A	c.(721-723)Gga>Aga	p.G241R	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G320R|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G241R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	320	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCGACGTGTGGGACTGGCAGC	0.398000													27	85					0	0	0.003271	0	0
DUSP27	92235	broad.mit.edu	37	1	167097729	167097729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:167097729C>T	ENST00000361200.2	+	6	3527	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121W|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121W			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTCCCAGTATCGGAGAAGCAC	0.517000													24	32					0	0	0.002780	0	0
GPX6	257202	broad.mit.edu	37	6	28473543	28473543	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:28473543G>A	ENST00000361902.1	-	4	445	c.396C>T	c.(394-396)ttC>ttT	p.F132F	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	132					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CAAAGAGCTGGAAACTGGGGA	0.438000													26	119					0	0	0.005443	0	0
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:147380211C>T	ENST00000240986.4	+	2	182	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_ENST00000369235.1_Silent_p.F43F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592000													18	87					0	0	0.008871	0	0
BPTF	2186	broad.mit.edu	37	17	65955759	65955759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:65955759C>T	ENST00000321892.4	+	26	8468	c.8407C>T	c.(8407-8409)Cct>Tct	p.P2803S	BPTF_ENST00000306378.6_Missense_Mutation_p.P2677S|BPTF_ENST00000335221.5_Missense_Mutation_p.P2660S|BPTF_ENST00000424123.3_Missense_Mutation_p.P2521S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2803	Pro-rich.			AP -> VL (in Ref. 1; BAA89208).	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACAccagctcctccagcccc	0.582000													15	21					0	0	0.002450	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105285	60105285	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:60105285C>T	ENST00000300182.4	+	2	284	c.219C>T	c.(217-219)gtC>gtT	p.V73V		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	73						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCCTGTCTGTCAACCCGGCTG	0.458000													32	83					0	0	0.002096	0	0
SCN7A	6332	broad.mit.edu	37	2	167262489	167262489	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:167262489G>A	ENST00000409855.1	-	25	4776	c.4650C>T	c.(4648-4650)ttC>ttT	p.F1550F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1550					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTTTGCCATGAAAAGAGGAG	0.438000													65	30					0	0	0.003610	0	0
VPS41	27072	broad.mit.edu	37	7	38783140	38783140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:38783140G>A	ENST00000310301.4	-	24	2038	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	VPS41_ENST00000395969.2_Nonsense_Mutation_p.R637*	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	662					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTACCCATTCGGCCTTGGTGG	0.368000													74	37					0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	55922538	55922538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:55922538C>T	ENST00000244728.5	-	30	3188	c.2791G>A	c.(2791-2793)Ggc>Agc	p.G931S	COL21A1_ENST00000370808.2_Missense_Mutation_p.G297S|COL21A1_ENST00000370819.1_Missense_Mutation_p.G928S|COL21A1_ENST00000535941.1_Missense_Mutation_p.G931S|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	931					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGGGGGCCTGGTTGCCCT	0.512000													13	18					0	0	0.001855	0	0
PTAFR	5724	broad.mit.edu	37	1	28477200	28477200	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:28477200G>A	ENST00000373857.3	-	2	967	c.333C>T	c.(331-333)atC>atT	p.I111I	PTAFR_ENST00000539896.1_Silent_p.I111I|PTAFR_ENST00000305392.3_Silent_p.I111I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	111					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTATAAGTGATGACGCCCA	0.547000													27	60					0	0	0.004656	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265218	37265218	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:37265218G>A	ENST00000315392.4	-	4	619	c.408C>T	c.(406-408)gtC>gtT	p.V136V	PLXDC1_ENST00000394316.2_Silent_p.V136V|PLXDC1_ENST00000539608.1_Silent_p.V63V|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.V96V	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	136					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CAAAGGACAAGACCACTCTCT	0.607000													12	30					0	0	0.000978	0	0
ITGAX	3687	broad.mit.edu	37	16	31383821	31383821	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:31383821C>T	ENST00000268296.4	+	18	2404	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	ITGAX_ENST00000562522.1_Silent_p.F761F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	761					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGAGATACTTCACGGCCTCCG	0.632000													19	32					0	0	0.007413	0	0
LGSN	51557	broad.mit.edu	37	6	63990434	63990434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:63990434C>T	ENST00000370658.5	-	5	634	c.601G>A	c.(601-603)Gga>Aga	p.G201R	LGSN_ENST00000370657.4_Missense_Mutation_p.G341E	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	0					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CCATTTTTTCCCAGTGATCGT	0.483000													22	75					0	0	0.001882	0	0
VWA7	80737	broad.mit.edu	37	6	31741213	31741213	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:31741213C>T	ENST00000375686.3	-	6	960	c.721_splice	c.e6-1	p.G241_splice	VWA7_ENST00000447450.1_Splice_Site_p.G241_splice|VWA7_ENST00000375688.4_Splice_Site_p.G241_splice|VWA7_ENST00000467576.1_Intron	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	241						extracellular region											GGCTACATTTCCCTGGGTTGG	0.597000													92	260					0	0	0.003610	0	0
SHANK1	50944	broad.mit.edu	37	19	51218955	51218955	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51218955G>A	ENST00000293441.1	-	3	510	c.492C>T	c.(490-492)acC>acT	p.T164T	SHANK1_ENST00000391814.1_Silent_p.T164T|SHANK1_ENST00000359082.3_Silent_p.T164T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	164					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)		CATCCAGGTTGGTCTGTTTGT	0.547000													60	116					0	0	0.003610	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:133353241T>C	ENST00000204726.3	-	21	4515	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000456883.2_Silent_p.E1319E|GOLGA3_ENST00000450791.2_Silent_p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587000													4	79					0	0	0.000248	0	0
APOB	338	broad.mit.edu	37	2	21250807	21250807	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21250807T>A	ENST00000233242.1	-	14	2087	c.1960A>T	c.(1960-1962)Aaa>Taa	p.K654*	APOB_ENST00000399256.4_Nonsense_Mutation_p.K654*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	654	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTTCTATTTTGGCTGAGGCT	0.403000													360	170					0	0	0.003610	0	0
LYAR	55646	broad.mit.edu	37	4	4281220	4281220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:4281220G>A	ENST00000343470.4	-	6	623	c.383C>T	c.(382-384)tCc>tTc	p.S128F	LYAR_ENST00000452476.1_Missense_Mutation_p.S128F	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	128						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCCAGAATGGATTCATTATG	0.343000													21	38					0	0	0.003330	0	0
TNIK	23043	broad.mit.edu	37	3	170884950	170884950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:170884950C>T	ENST00000436636.2	-	10	1227	c.883G>A	c.(883-885)Gag>Aag	p.E295K	TNIK_ENST00000475336.1_Missense_Mutation_p.E295K|TNIK_ENST00000470834.1_Missense_Mutation_p.E295K|TNIK_ENST00000369326.5_Missense_Mutation_p.E295K|TNIK_ENST00000538048.1_Missense_Mutation_p.E295K|TNIK_ENST00000460047.1_Missense_Mutation_p.E295K|TNIK_ENST00000488470.1_Missense_Mutation_p.E295K|TNIK_ENST00000357327.5_Missense_Mutation_p.E295K|TNIK_ENST00000341852.6_Missense_Mutation_p.E295K|TNIK_ENST00000284483.8_Missense_Mutation_p.E295K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	295	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACCTGTCGCTCATTAGGTTGG	0.423000													10	15					0	0	0.008291	0	0
ZNF540	163255	broad.mit.edu	37	19	38103515	38103515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38103515G>A	ENST00000592533.1	+	5	1666	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	ZNF540_ENST00000316433.4_Missense_Mutation_p.G445E|ZNF540_ENST00000589117.1_Missense_Mutation_p.G413E|ZNF540_ENST00000343599.5_Missense_Mutation_p.G445E	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGAATGCGGGAAAGCCTTT	0.423000													18	39					0	0	0.006122	0	0
COL4A4	1286	broad.mit.edu	37	2	228012173	228012173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:228012173C>T	ENST00000396625.3	-	2	234	c.27G>A	c.(25-27)atG>atA	p.M9I	COL4A4_ENST00000329662.7_Missense_Mutation_p.M9I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	9					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAGCACCTCATTAGTACTA	0.428000													203	93					0	0	0.003610	0	0
ACSM4	341392	broad.mit.edu	37	12	7480885	7480885	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7480885G>A	ENST00000399422.4	+	13	1707	c.1659G>A	c.(1657-1659)gtG>gtA	p.V553V		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	553					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TCAATTAGGTGGAATTTGTTC	0.398000													3	6					0	0	0.004672	0	0
RP1	6101	broad.mit.edu	37	8	55537472	55537472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:55537472G>A	ENST00000220676.1	+	4	1178	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	344					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)			AATAAAAGAGGAAGAAACCAT	0.338000													17	24					0	0	0.004990	0	0
SEL1L2	80343	broad.mit.edu	37	20	13845827	13845827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:13845827C>T	ENST00000284951.5	-	17	1705	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E489K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	544						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATGGCAGCTCGATTCCATAG	0.428000													33	85					0	0	0.004878	0	0
LRRK2	120892	broad.mit.edu	37	12	40643657	40643657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:40643657G>A	ENST00000298910.7	+	8	926	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E290K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	290					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.E290K(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTATTAAACGAAGTCCATGA	0.388000													19	31					0	0	0.006122	0	0
MIA3	375056	broad.mit.edu	37	1	222826654	222826654	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:222826654G>C	ENST00000344922.5	+	15	4319	c.4294G>C	c.(4294-4296)Gat>Cat	p.D1432H	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.D1432H|MIA3_ENST00000340535.7_Missense_Mutation_p.D310H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1432					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAATGATTCAGATGAATTAGC	0.413000													180	297					0	0	0.003610	0	0
TSPAN16	26526	broad.mit.edu	37	19	11422892	11422892	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:11422892G>A	ENST00000316737.1	+	6	831	c.681G>A	c.(679-681)gtG>gtA	p.V227V	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Silent_p.V202V|TSPAN16_ENST00000590327.1_Silent_p.V227V	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	227						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GAGCTGCAGTGATACAGGTAA	0.478000													9	19					0	0	0.006214	0	0
FLT1	2321	broad.mit.edu	37	13	29001438	29001438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:29001438C>T	ENST00000282397.4	-	10	1545	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	FLT1_ENST00000539099.1_Missense_Mutation_p.E432K|FLT1_ENST00000541932.1_Missense_Mutation_p.E432K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	432	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACGGCCTTTTCGTAAATCTGG	0.493000													12	12					0	0	0.001368	0	0
MAP10	54627	broad.mit.edu	37	1	232942560	232942560	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:232942560G>A	ENST00000418460.1	+	1	1918	c.1791G>A	c.(1789-1791)ggG>ggA	p.G597G		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GTTCTGTGGGGGGATGTGAAA	0.418000													17	45					0	0	0.004990	0	0
LOC150776	150776	broad.mit.edu	37	2	132276718	132276718	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:132276718C>T	ENST00000438378.2	+	0	2038					NR_026922.1																						ACTCCTTCCTCTCATGGCTGG	0.597000													46	20					0	0	0.003610	0	0
SGCZ	137868	broad.mit.edu	37	8	13965683	13965683	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:13965683G>A	ENST00000382080.1	-	6	1324	c.609C>T	c.(607-609)tcC>tcT	p.S203S	SGCZ_ENST00000421524.2_Silent_p.S156S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	190					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGAGATCTTGGGATGGCTCTG	0.438000													25	45					0	0	0.007291	0	0
CIT	11113	broad.mit.edu	37	12	120306862	120306862	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:120306862A>C	ENST00000392521.2	-	3	294		c.e3+1		CIT_ENST00000261833.7_Splice_Site	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)						intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCCCAAACTTACACTTCCGGA	0.428000													39	89					0	0	0.006230	0	0
RFT1	91869	broad.mit.edu	37	3	53159945	53159945	+	Silent	SNP	G	G	A	rs148510042		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:53159945G>A	ENST00000296292.3	-	2	190	c.129C>T	c.(127-129)atC>atT	p.I43I	RFT1_ENST00000394738.3_Silent_p.I43I	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	43					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.I43I(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTACGCCAACGATTTCCTTTG	0.408000													13	30					0	0	0.001368	0	0
PDZD2	23037	broad.mit.edu	37	5	32010454	32010454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:32010454C>T	ENST00000438447.1	+	6	1661	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	PDZD2_ENST00000282493.3_Missense_Mutation_p.L425F			O15018	PDZD2_HUMAN	PDZ domain containing 2	425					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGCAGAGGACCTCCTCAGGTT	0.512000													43	102					0	0	0.003610	0	0
GTF2B	2959	broad.mit.edu	37	1	89322963	89322963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:89322963C>T	ENST00000370500.5	-	6	861	c.743G>A	c.(742-744)aGg>aAg	p.R248K	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	248					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	p.R248M(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GATGGGGCTCCTCCCAGGAAC	0.507000													30	51					0	0	0.007291	0	0
PLCD4	84812	broad.mit.edu	37	2	219487534	219487534	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:219487534G>A	ENST00000450993.2	+	6	1044	c.705G>A	c.(703-705)caG>caA	p.Q235Q	PLCD4_ENST00000417849.1_Silent_p.Q235Q|PLCD4_ENST00000432688.1_Silent_p.Q235Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	235	EF-hand 3.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGAGGAGCAGAAGGAGAGAG	0.483000													92	31					0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200960078	200960078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:200960078G>A	ENST00000332129.2	-	18	2970	c.2654C>T	c.(2653-2655)cCt>cTt	p.P885L	KIF21B_ENST00000422435.2_Missense_Mutation_p.P885L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P885L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P885L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	885					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTGGGCGCAGGATGGTCCCC	0.637000													64	91					0	0	0.003610	0	0
KRT5	3852	broad.mit.edu	37	12	52910428	52910428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:52910428C>T	ENST00000252242.4	-	7	1822	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	478	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCTGCATTCCTCGCCCTCC	0.557000													20	39					0	0	0.001882	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121698913	121698913	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:121698913C>T	ENST00000393386.2	+	28	6999	c.6588C>T	c.(6586-6588)agC>agT	p.S2196S	PTPRZ1_ENST00000449182.1_Silent_p.S1329S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2196	Tyrosine-protein phosphatase 2.				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						ATCCAGATAGCCCCATTAGTA	0.358000													12	48					0	0	0.001855	0	0
IGHA1	3493	broad.mit.edu	37	14	106173759	106173759	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106173759C>T	ENST00000390547.2	-	0	807																											CGGGGCAGCTCCTGTGACCCC	0.672000													25	15					0	0	0.008361	0	0
TBC1D5	9779	broad.mit.edu	37	3	17202628	17202628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:17202628G>A	ENST00000253692.7	-	22	3879	c.2215C>T	c.(2215-2217)Cgc>Tgc	p.R739C	TBC1D5_ENST00000429383.4_Missense_Mutation_p.R739C|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.R761C	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	739						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTGAGGGTGCGAAGAGGCTGG	0.582000													13	45					0	0	0.001368	0	0
PKP2	5318	broad.mit.edu	37	12	32996245	32996245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:32996245G>A	ENST00000070846.6	-	6	1405	c.1381C>T	c.(1381-1383)Cat>Tat	p.H461Y	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	461					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTGACTGTATGGTCTGTACAA	0.532000													21	53					0	0	0.001882	0	0
RPH3A	22895	broad.mit.edu	37	12	113334571	113334571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:113334571G>A	ENST00000389385.4	+	22	2568	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	RPH3A_ENST00000551052.1_Missense_Mutation_p.V687M|RPH3A_ENST00000548866.1_Missense_Mutation_p.V642M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V691M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V642M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V691M|RPH3A_ENST00000420983.2_Missense_Mutation_p.V691M|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	691					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGAGAACCACGTGTCAAGTGA	0.537000													13	35					0	0	0.001368	0	0
MC3R	4159	broad.mit.edu	37	20	54824259	54824259	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:54824259C>T	ENST00000243911.2	+	1	472	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ACAACATCTTCGACTCCATGA	0.552000													20	82					0	0	0.001882	0	0
FCRL6	343413	broad.mit.edu	37	1	159785397	159785397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159785397G>A	ENST00000368106.3	+	10	1252	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	417						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGTGAATATGAGAAGCAGGA	0.537000													28	97					0	0	0.006320	0	0
SETD1A	9739	broad.mit.edu	37	16	30980955	30980955	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:30980955T>G	ENST00000262519.8	+	12	3647	c.2961T>G	c.(2959-2961)gaT>gaG	p.D987E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	987	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ATGAGGAAGATGAAGATCGAG	0.507000													9	25					0	0	0.004482	0	0
ARMC4	55130	broad.mit.edu	37	10	28225792	28225792	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:28225792T>G	ENST00000305242.5	-	15	2207	c.2115A>C	c.(2113-2115)gaA>gaC	p.E705D	ARMC4_ENST00000545014.1_Missense_Mutation_p.E230D|ARMC4_ENST00000537576.1_Missense_Mutation_p.E397D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	705							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGTCCCGGGTTTCCTTATCTT	0.478000													24	24					0	0	0.003330	0	0
KCNC2	3747	broad.mit.edu	37	12	75445023	75445023	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:75445023G>A	ENST00000549446.1	-	3	1442	c.762C>T	c.(760-762)ttC>ttT	p.F254F	KCNC2_ENST00000298972.1_Silent_p.F254F|KCNC2_ENST00000393288.2_Silent_p.F254F|KCNC2_ENST00000550433.1_Silent_p.F254F|KCNC2_ENST00000341669.3_Silent_p.F254F|KCNC2_ENST00000540018.1_Silent_p.F254F|KCNC2_ENST00000350228.2_Silent_p.F254F|KCNC2_ENST00000548513.1_Silent_p.F254F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	254					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TAACAATATTGAAAGCTTCAT	0.343000													12	16					0	0	0.000978	0	0
OR10K1	391109	broad.mit.edu	37	1	158435387	158435387	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158435387C>T	ENST00000289451.2	+	1	116	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGAGAGAGTTCGTCGTCCTCG	0.512000													23	60					0	0	0.002780	0	0
ZNF215	7762	broad.mit.edu	37	11	6977185	6977185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6977185C>T	ENST00000278319.5	+	7	1565	c.977C>T	c.(976-978)cCt>cTt	p.P326L	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.P326L|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	326					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GTGGGAATTCCTTCAAGAAAG	0.308000													25	56					0	0	0.005443	0	0
DYSF	8291	broad.mit.edu	37	2	71896816	71896816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:71896816G>A	ENST00000258104.3	+	50	5884	c.5607G>A	c.(5605-5607)tgG>tgA	p.W1869*	DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1886*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W1877*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1887*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1891*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1908*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1900*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1901*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1907*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1870*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1890*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1869						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTTCAACTGGAGGTTCATTT	0.488000													59	32					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9085985	9085985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9085985C>T	ENST00000397910.4	-	1	6033	c.5830G>A	c.(5830-5832)Gaa>Aaa	p.E1944K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1944	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						ATGACTTCTTCCACTGGAATG	0.493000													23	44					0	0	0.002780	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:140481411C>T	ENST00000288602.6	-	11	1457	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		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.G466V(15)|p.G466E(5)|p.G466A(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)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	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				32	70					0	0	0.002096	0	0
C1orf173	127254	broad.mit.edu	37	1	75107095	75107095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:75107095G>A	ENST00000326665.5	-	5	582	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	122										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGTGGGTGGGGAGACAGGATT	0.418000													20	42					0	0	0.008871	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143858	142143858	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142143858C>T	ENST00000390373.2	-	0	137																											ATTCATGGTTCATATCCTGGG	0.502000													29	69					0	0	0.002096	0	0
PLCB1	23236	broad.mit.edu	37	20	8698405	8698405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:8698405G>A	ENST00000378641.3	+	14	1898	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	PLCB1_ENST00000338037.6_Missense_Mutation_p.E475K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E475K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	475					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						CAAGTCATCAGAAGGAAGCGG	0.453000													30	53					0	0	0.007291	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272198	43272198	+	Silent	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:43272198G>T	ENST00000263246.3	-	10	1494	c.1293C>A	c.(1291-1293)gtC>gtA	p.V431V	PACSIN2_ENST00000402229.1_Silent_p.V431V|PACSIN2_ENST00000403744.3_Silent_p.V431V|PACSIN2_ENST00000407585.1_Silent_p.V390V|PACSIN2_ENST00000337959.4_Silent_p.V390V|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	431	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				ACAGGGCCCGGACTCGCACTT	0.607000													15	44					2.39187e-15	2.88211e-15	0.008871	1	0
NELFA	7469	broad.mit.edu	37	4	2010584	2010584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:2010584C>T	ENST00000382882.3	-	1	1253	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	NELFA_ENST00000411638.1_Missense_Mutation_p.A35T|NELFA_ENST00000542778.1_5'UTR	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		ATGACCGCGGCCGTGAGCAGG	0.682000													7	17					0	0	0.001984	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453074	64453074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:64453074G>A	ENST00000394323.2	-	2	831	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		111						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttgccagagggaaataccttg	0.443000													16	22					0	0	0.006122	0	0
ARID3B	10620	broad.mit.edu	37	15	74887993	74887993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:74887993G>A	ENST00000346246.5	+	9	1792	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCTCATCACGGGGTCTGCTCC	0.642000													13	31					0	0	0.004990	0	0
ABHD4	63874	broad.mit.edu	37	14	23072519	23072519	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23072519T>C	ENST00000428304.2	+	3	407	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	113					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AAGGCCAGCATTCCCAAGGGA	0.612000													17	34					0	0	0.006122	0	0
STAT2	6773	broad.mit.edu	37	12	56737284	56737284	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:56737284G>A	ENST00000314128.4	-	24	2468	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	STAT2_ENST00000557235.1_Silent_p.I811I|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	815					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CATTCGGCATGATTTCTTCAA	0.512000													11	40					0	0	0.001855	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920542	51920542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51920542G>A	ENST00000353836.5	-	2	436	c.215C>T	c.(214-216)cCt>cTt	p.P72L	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.P72L|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.P72L|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.P72L|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.P72L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.P72L|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.P72L|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.P72L|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.P72L	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	72	Ig-like V-type.				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)		TGTGGCCACAGGAGCACCCTT	0.592000													22	53					0	0	0.001882	0	0
PTPN9	5780	broad.mit.edu	37	15	75815515	75815515	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:75815515G>A	ENST00000306726.2	-	4	881	c.369C>T	c.(367-369)gtC>gtT	p.V123V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	123	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCACATGTTGGACTGACTTGT	0.418000													19	34					0	0	0.006122	0	0
DSN1	79980	broad.mit.edu	37	20	35399459	35399459	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:35399459T>C	ENST00000426836.1	-	3	544	c.172A>G	c.(172-174)Agc>Ggc	p.S58G	DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.S58G|DSN1_ENST00000448110.1_Missense_Mutation_p.S42G|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.S58G	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	58					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TTTTTAGGGCTAGAGCCAAGG	0.448000													66	128					0	0	0.003610	0	0
GPR31	2853	broad.mit.edu	37	6	167571071	167571071	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:167571071G>A	ENST00000366834.1	-	1	746	c.249C>T	c.(247-249)ggC>ggT	p.G83G		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	83						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCCCACACGGCCCAGATGCC	0.672000													10	15					0	0	0.006214	0	0
SVEP1	79987	broad.mit.edu	37	9	113169251	113169251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:113169251C>T	ENST00000401783.2	-	38	8965	c.8629G>A	c.(8629-8631)Gga>Aga	p.G2877R	SVEP1_ENST00000374469.1_Missense_Mutation_p.G2854R|SVEP1_ENST00000297826.5_Missense_Mutation_p.G803R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2877	Sushi 24.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCCAACTTCCATTGGCAAGA	0.537000													19	22					0	0	0.007413	0	0
ZNF749	388567	broad.mit.edu	37	19	57955356	57955356	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:57955356A>G	ENST00000334181.4	+	3	1090	c.840A>G	c.(838-840)tcA>tcG	p.S280S	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCTTTCTTTCAAAAAGGTCTG	0.448000													24	46					0	0	0.003330	0	0
TBX20	57057	broad.mit.edu	37	7	35244178	35244178	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:35244178G>A	ENST00000408931.3	-	7	1433	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	303						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTTTGAATCAGGCTCTCCACA	0.453000													15	52					0	0	0.006122	0	0
WDR16	146845	broad.mit.edu	37	17	9515711	9515711	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:9515711A>C	ENST00000352665.5	+	8	1009	c.940A>C	c.(940-942)Att>Ctt	p.I314L	WDR16_ENST00000299764.5_Missense_Mutation_p.I324L|WDR16_ENST00000396219.3_Missense_Mutation_p.I246L	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	314						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAATCGCACATTTATCGTGT	0.443000													27	28					0	0	0.004656	0	0
COL4A1	1282	broad.mit.edu	37	13	110845251	110845251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:110845251C>T	ENST00000375820.4	-	23	1512	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G464E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	464	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCAACTCTCTCCTTTTTGACC	0.498000													22	25					0	0	0.003330	0	0
ABCG1	9619	broad.mit.edu	37	21	43704787	43704787	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:43704787C>T	ENST00000398437.1	+	8	1438	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	ABCG1_ENST00000361802.2_Silent_p.F284F|ABCG1_ENST00000398449.3_Silent_p.F284F|ABCG1_ENST00000340588.4_Silent_p.F392F|ABCG1_ENST00000347800.2_Silent_p.F281F|ABCG1_ENST00000343687.3_Silent_p.F295F|ABCG1_ENST00000398457.2_Silent_p.F286F|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	284	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCGAGCTGTTCGACCAGGTAC	0.612000													24	76					0	0	0.004656	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217918	150217918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150217918G>A	ENST00000313543.4	+	2	1013	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	286							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATGCTTTCAGAAATATGGCA	0.249000													8	29					0	0	0.008291	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397289	17397289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:17397289C>T	ENST00000598347.1	+	8	1561	c.1559C>T	c.(1558-1560)aCc>aTc	p.T520I	ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000404085.1_Silent_p.H588H|ANKLE1_ENST00000594072.1_Silent_p.H555H|ANKLE1_ENST00000394458.3_Silent_p.H592H	NM_001278444.1	NP_001265373.1	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	554						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCTGCTGCACCGTGCCCTCC	0.662000													14	16					0	0	0.001855	0	0
TFCP2	7024	broad.mit.edu	37	12	51512486	51512486	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:51512486G>A	ENST00000307660.4	-	2	912	c.192C>T	c.(190-192)atC>atT	p.I64I	TFCP2_ENST00000257915.5_Silent_p.I64I|TFCP2_ENST00000549867.1_Silent_p.I64I|TFCP2_ENST00000548115.1_Silent_p.I64I	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	64					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GAAAAGGCAGGATTTTATTCT	0.383000													24	58					0	0	0.003330	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683845	3683845	+	Splice_Site	SNP	G	G	A	rs143886579		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:3683845G>A	ENST00000344754.4	-	5	1226	c.1228_splice	c.e5+1	p.N409_splice	SIGLEC1_ENST00000202578.4_Splice_Site_p.N409_splice	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	409					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCTCTTACGGTTGACTACCA	0.612000													15	27					0	0	0.006122	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586370	106586370	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106586370G>A	ENST00000390602.2	-	0	194																											GCACAGGAGAGTCTCAGGGAC	0.552000													36	41					0	0	0.006999	0	0
SLFN13	146857	broad.mit.edu	37	17	33767881	33767881	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33767881A>C	ENST00000285013.6	-	6	2702	c.2427T>G	c.(2425-2427)gtT>gtG	p.V809V	SLFN13_ENST00000526861.1_Silent_p.V809V|SLFN13_ENST00000542635.1_Silent_p.V809V|SLFN13_ENST00000534689.1_Silent_p.V491V|SLFN13_ENST00000533791.1_Silent_p.V809V|SLFN13_ENST00000360502.2_Silent_p.V491V	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	809						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAAGCACAGCAACATCCTTTG	0.443000													34	50					0	0	0.005524	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438184	204438184	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:204438184C>A	ENST00000367187.3	-	3	1303	c.747G>T	c.(745-747)ttG>ttT	p.L249F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L249F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	249	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGGCATCCCGCAACATCTCCG	0.577000													93	380					3.98749e-38	4.81349e-38	0.003610	1	0
DMGDH	29958	broad.mit.edu	37	5	78338173	78338173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:78338173G>A	ENST00000255189.3	-	7	1154	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	DMGDH_ENST00000380311.4_Missense_Mutation_p.P175S|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	376					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGAATGTCAGGAGAATACGTG	0.438000													20	21					0	0	0.008871	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092819	147092819	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:147092819G>A	ENST00000361727.3	+	10	2133	c.1617G>A	c.(1615-1617)agG>agA	p.R539R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	539	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCACAAAGGAAGCCGGGAA	0.433000										HNSCC(39;0.1)			41	92					0	0	0.002222	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228813	57228813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:57228813G>A	ENST00000396721.2	-	2	224	c.94C>T	c.(94-96)Cca>Tca	p.P32S	SDR16C5_ENST00000303749.3_Missense_Mutation_p.P32S|SDR16C5_ENST00000522671.1_Missense_Mutation_p.P32S			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	32					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CGTGGCTTTGGGAGTAAGGCA	0.463000													25	34					0	0	0.004656	0	0
COL11A1	1301	broad.mit.edu	37	1	103471818	103471818	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:103471818C>T	ENST00000358392.2	-	16	2090	c.1773_splice	c.e16+1	p.R591_splice	COL11A1_ENST00000512756.1_Splice_Site_p.R463_splice|COL11A1_ENST00000353414.4_Splice_Site_p.R540_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Splice_Site_p.R579_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	579	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAAGCCATACCCTTTTTCCAG	0.353000													25	67					0	0	0.002096	0	0
COL7A1	1294	broad.mit.edu	37	3	48626092	48626092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:48626092G>A	ENST00000328333.8	-	19	2677	c.2570C>T	c.(2569-2571)tCc>tTc	p.S857F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S857F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	857	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACAACAATGGAGACAGGTGT	0.582000													15	29					0	0	0.003163	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101782	46101782	+	Missense_Mutation	SNP	C	C	T	rs138110019		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46101782C>T	ENST00000391617.1	-	1	296	c.257G>A	c.(256-258)aGa>aAa	p.R86K	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	86	14 X 5 AA approximate repeats.					keratin filament		p.R86K(1)		kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGATGGGTCTGCAGAGGAC	0.637000													21	48					0	0	0.002299	0	0
OR10K2	391107	broad.mit.edu	37	1	158389833	158389833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158389833G>A	ENST00000314902.2	-	1	823	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTAGGATACTGATATTAGAGC	0.383000													60	97					0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704261	117704261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:117704261C>T	ENST00000355044.3	+	29	4237	c.4111C>T	c.(4111-4113)Ctt>Ttt	p.L1371F	ATRNL1_ENST00000423111.2_Missense_Mutation_p.L422F|ATRNL1_ENST00000303745.7_Missense_Mutation_p.L164F	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1371						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCGAAAACACCTTTCAACACG	0.428000													37	30					0	0	0.008740	0	0
SYVN1	84447	broad.mit.edu	37	11	64897317	64897317	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:64897317C>T	ENST00000526060.1	-	14	1668	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	SYVN1_ENST00000307289.6_Silent_p.E441E|SYVN1_ENST00000377190.3_Silent_p.E493E|SYVN1_ENST00000294256.8_Silent_p.E492E			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	493					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCTCATGGCCCTCCAGAGCTC	0.657000													15	32					0	0	0.004990	0	0
TXNIP	10628	broad.mit.edu	37	1	145438945	145438945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:145438945C>T	ENST00000369317.4	+	1	477	c.143C>T	c.(142-144)gCt>gTt	p.A48V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	48					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGATCCTGGCTTGCGGAGTG	0.547000													38	66					0	0	0.007835	0	0
CHP2	63928	broad.mit.edu	37	16	23767750	23767750	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:23767750T>G	ENST00000300113.2	+	5	817	c.394T>G	c.(394-396)Tcc>Gcc	p.S132A		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	132	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGGGAAGATCTCCAGGCATGA	0.542000													11	15					0	0	0.008291	0	0
CFHR5	81494	broad.mit.edu	37	1	196953238	196953238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196953238G>A	ENST00000367414.5	+	3	529	c.473G>A	c.(472-474)tGg>tAg	p.W158*	CFHR5_ENST00000256785.4_Nonsense_Mutation_p.W134*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	134	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GAACGGGGCTGGTCCACTCCT	0.353000													8	75					0	0	0.004482	0	0
ACTN2	88	broad.mit.edu	37	1	236898939	236898939	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:236898939C>T	ENST00000366578.4	+	8	868	c.702C>T	c.(700-702)atC>atT	p.I234I	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	234	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTCAGACATCGTGAACACCC	0.527000													11	67					0	0	0.001368	0	0
CNOT1	23019	broad.mit.edu	37	16	58570932	58570932	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:58570932G>A	ENST00000317147.5	-	39	5939	c.5607C>T	c.(5605-5607)ggC>ggT	p.G1869G	CNOT1_ENST00000569240.1_Silent_p.G1864G|CNOT1_ENST00000245138.4_Silent_p.G720G	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1869					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTGTCGCGGCCAGCTGCTG	0.483000													35	58					0	0	0.006230	0	0
OR51I2	390064	broad.mit.edu	37	11	5474840	5474840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5474840G>A	ENST00000341449.2	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTTGGGGGAAATACAGTG	0.572000													17	34					0	0	0.004990	0	0
RBM15B	29890	broad.mit.edu	37	3	51430285	51430285	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:51430285C>T	ENST00000323686.4	+	1	1555	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	485	RRM 3.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGCAGGCTCCGCGTGGATT	0.572000													20	58					0	0	0.001523	0	0
GJA5	2702	broad.mit.edu	37	1	147231250	147231250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:147231250G>A	ENST00000271348.2	-	2	258	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	GJA5_ENST00000369237.1_Missense_Mutation_p.R33C	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	33					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R33C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ACGAGCATACGGAATATGAAG	0.547000													39	63					0	0	0.006999	0	0
TNR	7143	broad.mit.edu	37	1	175355281	175355281	+	Missense_Mutation	SNP	G	G	A	rs138742753		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175355281G>A	ENST00000367674.1	-	8	2372	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	TNR_ENST00000263525.2_Missense_Mutation_p.P555L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	555	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTGGCTCAGGGGAGGCTGCAG	0.607000													13	75					0	0	0.002450	0	0
GRK7	131890	broad.mit.edu	37	3	141499223	141499223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:141499223C>T	ENST00000264952.2	+	2	757	c.620C>T	c.(619-621)gCc>gTc	p.A207V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	207	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAGGTATGTGCCGTCCAGGTG	0.458000													11	8					0	0	0.000978	0	0
RASA3	22821	broad.mit.edu	37	13	114751155	114751155	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:114751155A>G	ENST00000334062.7	-	23	2481	c.2360T>C	c.(2359-2361)gTt>gCt	p.V787A	RASA3_ENST00000389544.4_Missense_Mutation_p.V755A	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	787					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CAAAGCCCCAACCCCAGCGAT	0.557000													63	47					0	0	0.003610	0	0
LYZL6	57151	broad.mit.edu	37	17	34263826	34263826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:34263826G>A	ENST00000585556.1	-	4	644	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	LYZL6_ENST00000293274.4_Missense_Mutation_p.P104S|LYZL6_ENST00000394523.3_Missense_Mutation_p.P104S			O75951	LYZL6_HUMAN	lysozyme-like 6	104					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAGGTTGGGATTCAGCAGA	0.572000													36	65					0	0	0.008740	0	0
IGHG1	3500	broad.mit.edu	37	14	106208272	106208272	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106208272C>T	ENST00000390548.2	-	0	627																											GCTGGGAGGGCTTTGTTGGAG	0.617000													104	144					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55539350	55539350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:55539350G>A	ENST00000220676.1	+	4	3056	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	970					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)			TTTTGTTATGGAAAGTAATAA	0.328000													24	55					0	0	0.002780	0	0
CGREF1	10669	broad.mit.edu	37	2	27324160	27324160	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:27324160C>T	ENST00000402394.1	-	6	1207	c.939G>A	c.(937-939)gtG>gtA	p.V313V	CGREF1_ENST00000312734.4_Silent_p.V313V|CGREF1_ENST00000405600.1_Silent_p.V313V|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Silent_p.V296V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Silent_p.V435V	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	296					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCATTCTCCACTTGAACAA	0.502000													121	68					0	0	0.003610	0	0
C2orf16	84226	broad.mit.edu	37	2	27801308	27801308	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:27801308A>C	ENST00000408964.2	+	1	1920	c.1869A>C	c.(1867-1869)gaA>gaC	p.E623D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	623										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAGCCCTAGAATCAGGAATTG	0.423000													34	21					0	0	0.003271	0	0
NRAP	4892	broad.mit.edu	37	10	115388709	115388709	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:115388709T>G	ENST00000369358.4	-	20	2380	c.2136A>C	c.(2134-2136)gaA>gaC	p.E712D	NRAP_ENST00000360478.3_Missense_Mutation_p.E669D|NRAP_ENST00000359988.3_Missense_Mutation_p.E704D|NRAP_ENST00000369360.3_Missense_Mutation_p.E677D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	704						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCTTGGCTTGTTCCAAGTTGA	0.547000													21	18					0	0	0.001882	0	0
MYO15A	51168	broad.mit.edu	37	17	18023148	18023148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:18023148C>T	ENST00000205890.5	+	2	1372	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	345	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACCTGGATCCCTATGCGCCG	0.592000													25	28					0	0	0.006320	0	0
ZNF540	163255	broad.mit.edu	37	19	38103018	38103018	+	Silent	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38103018T>G	ENST00000592533.1	+	5	1169	c.837T>G	c.(835-837)ggT>ggG	p.G279G	ZNF540_ENST00000316433.4_Silent_p.G279G|ZNF540_ENST00000589117.1_Silent_p.G247G|ZNF540_ENST00000343599.5_Silent_p.G279G	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGATAAGGGTTTTTTTAGTA	0.299000													21	31					0	0	0.001882	0	0
CNTN5	53942	broad.mit.edu	37	11	100170010	100170010	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:100170010C>T	ENST00000524871.1	+	20	2792	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	CNTN5_ENST00000279463.3_Silent_p.F834F|CNTN5_ENST00000418526.2_Silent_p.F760F|CNTN5_ENST00000528682.1_Silent_p.F834F|CNTN5_ENST00000527185.1_Silent_p.F834F|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	834	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTCCAAATTCATTTATCGAG	0.428000													17	50					0	0	0.007413	0	0
TBL3	10607	broad.mit.edu	37	16	2025693	2025693	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:2025693C>T	ENST00000568546.1	+	10	1097	c.969C>T	c.(967-969)tcC>tcT	p.S323S		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	323					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGGCTCGCTCCCTGCGGCTGC	0.667000													14	29					0	0	0.004990	0	0
OR10X1	128367	broad.mit.edu	37	1	158549611	158549611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158549611C>T	ENST00000368150.1	-	1	78	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E27K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAATGAATTCCTTCAGGATT	0.363000													35	169					0	0	0.003271	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792324	38792324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38792324G>A	ENST00000348513.6	-	7	1180	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	SMARCE1_ENST00000580419.1_Missense_Mutation_p.H99Y|SMARCE1_ENST00000431889.2_Missense_Mutation_p.H116Y|SMARCE1_ENST00000544009.1_Missense_Mutation_p.H64Y|SMARCE1_ENST00000400122.3_Missense_Mutation_p.H64Y|SMARCE1_ENST00000377808.4_Missense_Mutation_p.H99Y|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000578044.1_Missense_Mutation_p.H64Y	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	134					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				GGGGAATTATGATAGGCCTTC	0.373000													20	69					0	0	0.003330	0	0
TMEM87A	25963	broad.mit.edu	37	15	42519037	42519037	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:42519037A>T	ENST00000389834.4	-	15	1634	c.1370T>A	c.(1369-1371)aTg>aAg	p.M457K	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.M396K	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	457						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CCAGAGAACCATGATGACAAA	0.483000													50	120					0	0	0.003610	0	0
KRT24	192666	broad.mit.edu	37	17	38855755	38855755	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38855755G>A	ENST00000264651.2	-	6	1358	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	434	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCGTGTCTTGATGTCCAGCA	0.507000													51	113					0	0	0.003610	0	0
DERL2	51009	broad.mit.edu	37	17	5388504	5388504	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:5388504G>A	ENST00000158771.4	-	2	181	c.126C>T	c.(124-126)taC>taT	p.Y42Y	DERL2_ENST00000572834.1_Silent_p.Y42Y|DERL2_ENST00000571968.1_5'UTR|DERL2_ENST00000570848.1_Silent_p.Y42Y	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	42					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CAGGATTGAAGTACAACTGAA	0.294000													11	21					0	0	0.001368	0	0
LRGUK	136332	broad.mit.edu	37	7	133812132	133812132	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:133812132C>T	ENST00000285928.2	+	1	81	c.12C>T	c.(10-12)tcC>tcT	p.S4S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	4							ATP binding|kinase activity	p.S4S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGCGACCTCCGAGAGGGCTC	0.612000													25	77					0	0	0.008361	0	0
LRFN3	79414	broad.mit.edu	37	19	36435786	36435786	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:36435786C>T	ENST00000588831.1	+	4	2806	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S	LRFN3_ENST00000246529.3_Silent_p.S584S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	584					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGTTTGCTCCCAGACCAAcg	0.711000													10	13					0	0	0.008291	0	0
STAB2	55576	broad.mit.edu	37	12	104060106	104060106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:104060106G>A	ENST00000388887.2	+	19	2264	c.2060G>A	c.(2059-2061)aGa>aAa	p.R687K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	687					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACTGGAGCAGATGTCCTGCT	0.552000													25	61					0	0	0.008361	0	0
CALCR	799	broad.mit.edu	37	7	93098045	93098045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:93098045C>T	ENST00000359558.2	-	8	856	c.557G>A	c.(556-558)gGg>gAg	p.G186E	CALCR_ENST00000360249.4_Missense_Mutation_p.G168E|CALCR_ENST00000421592.1_Missense_Mutation_p.G168E|CALCR_ENST00000426151.1_Missense_Mutation_p.G168E|CALCR_ENST00000394441.1_Missense_Mutation_p.G168E	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	168					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CACGAAAATCCCCAGGGAAAT	0.383000													38	46					0	0	0.008740	0	0
FRAS1	80144	broad.mit.edu	37	4	79442682	79442682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:79442682C>T	ENST00000264895.6	+	68	10986	c.10546C>T	c.(10546-10548)Cag>Tag	p.Q3516*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3511					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCAGGAATCCAGACAGACAG	0.458000													11	35					0	0	0.001855	0	0
KDM2B	84678	broad.mit.edu	37	12	121878938	121878938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:121878938G>A	ENST00000377069.4	-	19	3582	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	KDM2B_ENST00000377071.4_Missense_Mutation_p.S1128F|KDM2B_ENST00000542973.1_Missense_Mutation_p.S496F|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1128	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGTCGAGGGAGACGGGCTG	0.607000													15	23					0	0	0.004007	0	0
ZNF322	79692	broad.mit.edu	37	6	26638664	26638664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:26638664C>T	ENST00000415922.2	-	4	763	c.118G>A	c.(118-120)Ggt>Agt	p.G40S	ZNF322_ENST00000471278.1_Missense_Mutation_p.G40S	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										TATATATGACCATCTATCTGA	0.338000													66	316					0	0	0.003610	0	0
OR2F1	26211	broad.mit.edu	37	7	143657714	143657714	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143657714C>T	ENST00000392899.1	+	1	688	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTTTTGTCCTACATCCAGA	0.502000													41	71					0	0	0.002222	0	0
ROBO2	6092	broad.mit.edu	37	3	77542460	77542460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:77542460C>T	ENST00000461745.1	+	5	1633	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ROBO2_ENST00000487694.3_Missense_Mutation_p.R261C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R245C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	245	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R245C(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTAGAATTTCGTTGTCAAGT	0.418000													22	42					0	0	0.001882	0	0
MACF1	23499	broad.mit.edu	37	1	39797305	39797305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:39797305C>T	ENST00000564288.1	+	37	5822	c.5045C>T	c.(5044-5046)tCt>tTt	p.S1682F	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S122F|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S1687F|MACF1_ENST00000567887.1_Missense_Mutation_p.S1719F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1687					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCCTCATTTCTGCATGGCTT	0.418000													31	55					0	0	0.007291	0	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:32631037G>A	ENST00000266086.4	-	8	719	c.708C>T	c.(706-708)taC>taT	p.Y236Y	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000													53	97					0	0	0.003610	0	0
LARP4	113251	broad.mit.edu	37	12	50860828	50860828	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:50860828T>C	ENST00000398473.2	+	13	1582	c.1470T>C	c.(1468-1470)agT>agC	p.S490S	LARP4_ENST00000347328.5_Silent_p.S419S|LARP4_ENST00000429001.3_Silent_p.S496S|LARP4_ENST00000293618.8_Silent_p.S419S|LARP4_ENST00000518444.1_Silent_p.S489S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	490							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TACCTGGAAGTTCATCAAGAA	0.393000													21	44					0	0	0.002299	0	0
OR2B3	442184	broad.mit.edu	37	6	29054298	29054298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29054298G>A	ENST00000377173.2	-	1	792	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AATCATGTGGGACCCACATGT	0.453000													23	22					0	0	0.001882	0	0
BLOC1S5	63915	broad.mit.edu	37	6	8064587	8064587	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:8064587G>C	ENST00000397457.2	-	1	60	c.23C>G	c.(22-24)aCc>aGc	p.T8S	EEF1E1-MUTED_ENST00000397456.2_Intron|BLOC1S5_ENST00000543936.1_5'UTR	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1			biogenesis of lysosomal organelles complex-1, subunit 5, muted																		ACCCACAGGGGTCTCTGTCCC	0.692000													6	54					0	0	0.004482	0	0
CCDC141	285025	broad.mit.edu	37	2	179714852	179714852	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179714852A>C	ENST00000420890.2	-	21	3398	c.3281T>G	c.(3280-3282)gTg>gGg	p.V1094G	CCDC141_ENST00000295723.5_Missense_Mutation_p.V519G	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	519							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTGTTTTGTCACTATTTTCTC	0.368000													36	29					0	0	0.006999	0	0
MYO18B	84700	broad.mit.edu	37	22	26294333	26294333	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:26294333G>A	ENST00000335473.7	+	29	4978	c.4728G>A	c.(4726-4728)agG>agA	p.R1576R	CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000407587.2_Silent_p.R1577R|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000536101.1_Silent_p.R1576R|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1576	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACTGAAGAGGAAGTGCCACC	0.493000													26	59					0	0	0.004656	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150141	117150141	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117150141C>T	ENST00000310357.3	-	1	57	c.36G>A	c.(34-36)gtG>gtA	p.V12V	GPRC6A_ENST00000368549.3_Silent_p.V12V|GPRC6A_ENST00000530250.1_Silent_p.V12V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	12					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAGAATAATCACAAAGCAGG	0.418000													9	29					0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228505631	228505631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:228505631C>T	ENST00000570156.2	+	64	16833	c.16759C>T	c.(16759-16761)Cct>Tct	p.P5587S	OBSCN_ENST00000284548.11_Missense_Mutation_p.P4630S|OBSCN_ENST00000366709.4_Missense_Mutation_p.P1749S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P4630S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2264S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4630					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCTCAGCCCCTGAGAGCCG	0.632000													28	42					0	0	0.003755	0	0
ZNF334	55713	broad.mit.edu	37	20	45131369	45131369	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:45131369C>T	ENST00000457685.2	-	6	1818	c.495G>A	c.(493-495)caG>caA	p.Q165Q	ZNF334_ENST00000593880.1_Silent_p.Q226Q|ZNF334_ENST00000347606.4_Silent_p.Q203Q			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTTTCAAAATCTGAATGTTCT	0.363000													34	63					0	0	0.006230	0	0
TLN2	83660	broad.mit.edu	37	15	63000709	63000709	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:63000709C>T	ENST00000561311.1	+	20	2411	c.2181C>T	c.(2179-2181)agC>agT	p.S727S	TLN2_ENST00000306829.6_Silent_p.S727S			Q9Y4G6	TLN2_HUMAN	talin 2	727					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGTTGTGAGCCCCACTATTA	0.597000													25	63					0	0	0.005443	0	0
NBN	4683	broad.mit.edu	37	8	90965699	90965699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:90965699G>A	ENST00000265433.3	-	11	1772	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	NBN_ENST00000409330.1_Missense_Mutation_p.H458Y	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	540					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCTGCAGCATGAGATTTACTG	0.348000								Homologous recombination					40	92					0	0	0.004878	0	0
POLR2F	5435	broad.mit.edu	37	22	38421635	38421635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:38421635G>A	ENST00000405557.1	+	5	420	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	POLR2F_ENST00000407936.1_Intron			P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	0					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					ctacgcactggcccacagcct	0.562000													4	13					0	0	0.000248	0	0
SYNE1	23345	broad.mit.edu	37	6	152712529	152712529	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152712529C>T	ENST00000367255.5	-	52	8488	c.7887G>A	c.(7885-7887)ctG>ctA	p.L2629L	SYNE1_ENST00000448038.1_Silent_p.L2636L|SYNE1_ENST00000423061.1_Silent_p.L2636L|SYNE1_ENST00000265368.4_Silent_p.L2629L|SYNE1_ENST00000341594.5_Silent_p.L2668L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2629					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGCTTCCTCCAGGGCTTCGT	0.562000										HNSCC(10;0.0054)			21	32					0	0	0.001523	0	0
ZNF883	169834	broad.mit.edu	37	9	115760332	115760332	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:115760332C>T	ENST00000427548.1	-	0	1481							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCATTACATTCATAAGGTTTC	0.358000													13	13					0	0	0.001368	0	0
DUSP27	92235	broad.mit.edu	37	1	167096589	167096589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:167096589G>A	ENST00000361200.2	+	6	2387	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E741K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E741K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	741					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGCAAAATGAAATGCTGCT	0.537000													34	62					0	0	0.006230	0	0
SNUPN	10073	broad.mit.edu	37	15	75890927	75890927	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:75890927G>A	ENST00000564644.1	-	10	1433	c.855C>T	c.(853-855)gtC>gtT	p.V285V	SNUPN_ENST00000308588.5_Silent_p.V285V|SNUPN_ENST00000371091.5_Silent_p.V327V|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000564675.1_Silent_p.V285V|SNUPN_ENST00000567134.1_Silent_p.V285V			O95149	SPN1_HUMAN	snurportin 1	285	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CTACACCAAGGACATCTGACA	0.572000													76	188					0	0	0.003610	0	0
GPATCH4	54865	broad.mit.edu	37	1	156566271	156566271	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156566271C>T	ENST00000368232.4	-	6	466		c.e6-1		GPATCH4_ENST00000497287.1_Splice_Site|GPATCH4_ENST00000438976.2_Splice_Site	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4							intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGTAGCCATCTAGGAGGGGT	0.507000													75	118					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152456295	152456295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152456295G>A	ENST00000367255.5	-	142	26333	c.25732C>T	c.(25732-25734)Cct>Tct	p.P8578S	SYNE1_ENST00000539504.1_Missense_Mutation_p.P733S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8530S|SYNE1_ENST00000354674.4_Missense_Mutation_p.P756S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P3102S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8530S|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8578S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P8190S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8578					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAATCAATAGGGACAATTTCA	0.393000										HNSCC(10;0.0054)			27	30					0	0	0.004656	0	0
TAOK2	9344	broad.mit.edu	37	16	29992969	29992969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:29992969C>T	ENST00000416441.2	+	1	1297	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TAOK2_ENST00000308893.4_Intron|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron			Q9UL54	TAOK2_HUMAN	TAO kinase 2	0	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TTCCCTTTCACCTTTTTCTGT	0.502000													20	30					0	0	0.008871	0	0
RYR1	6261	broad.mit.edu	37	19	38976836	38976836	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38976836C>T	ENST00000355481.4	+	34	5672	c.5541C>T	c.(5539-5541)acC>acT	p.T1847T	RYR1_ENST00000359596.3_Silent_p.T1847T|RYR1_ENST00000360985.3_Silent_p.T1847T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1847	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)	TCGTGTCCACCCTGCTGGTAA	0.582000													69	190					0	0	0.003610	0	0
JADE1	79960	broad.mit.edu	37	4	129764136	129764136	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:129764136C>T	ENST00000226319.6	+	3	361	c.81C>T	c.(79-81)tcC>tcT	p.S27S	PHF17_ENST00000511647.1_Silent_p.S27S|PHF17_ENST00000512960.1_Silent_p.S27S|PHF17_ENST00000413543.2_Silent_p.S27S|PHF17_ENST00000452328.2_Silent_p.S27S	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		27					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCAGAATTCCCGATCCCAGC	0.448000													26	57					0	0	0.005443	0	0
LAMB3	3914	broad.mit.edu	37	1	209791870	209791870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:209791870C>T	ENST00000391911.1	-	18	3225	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	LAMB3_ENST00000367030.3_Missense_Mutation_p.D946N|LAMB3_ENST00000356082.4_Missense_Mutation_p.D946N	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	946	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCACCAAGTCCACGTTGGGG	0.617000													48	84					0	0	0.003610	0	0
ZNF182	7569	broad.mit.edu	37	X	47836115	47836115	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:47836115G>A	ENST00000396965.1	-	7	1721	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	ZNF182_ENST00000376943.3_Silent_p.P438P|ZNF182_ENST00000305127.6_Silent_p.P457P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TACATTCAAAGGGTTTCTCTC	0.423000													26	12					0	0	0.006320	0	0
WDR62	284403	broad.mit.edu	37	19	36562584	36562584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:36562584C>T	ENST00000401500.2	+	8	1044	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.L337F|WDR62_ENST00000270301.7_Missense_Mutation_p.L337F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	337					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCACACTACCTTGGGGTAGA	0.617000													14	28					0	0	0.004007	0	0
IL17RB	55540	broad.mit.edu	37	3	53890992	53890992	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:53890992C>T	ENST00000288167.3	+	7	660	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	217					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GCACTATCATCGGGTTTTCTC	0.463000													57	115					0	0	0.003610	0	0
RANBP17	64901	broad.mit.edu	37	5	170640706	170640706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:170640706C>T	ENST00000523189.1	+	21	2467	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	768					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTACAACTCCCATCTTGAAA	0.418000			T	TRD@	ALL								101	78					0	0	0.003610	0	0
MTFR1	9650	broad.mit.edu	37	8	66594616	66594616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:66594616C>T	ENST00000262146.4	+	3	221	c.95C>T	c.(94-96)tCg>tTg	p.S32L	MTFR1_ENST00000458689.2_Intron|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	32						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CCATATGGTTCGTCTCGAAGT	0.333000													13	36					0	0	0.004990	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624050	21624050	+	Silent	SNP	G	G	A	rs143241393		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21624050G>A	ENST00000304418.3	-	1	172	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGTGCTCTGCGATGGAGAAAG	0.527000													41	66					0	0	0.008740	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478000													7	19					0	0	0.001984	0	0
ZNF236	7776	broad.mit.edu	37	18	74649199	74649199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:74649199C>T	ENST00000253159.8	+	26	4874	c.4676C>T	c.(4675-4677)tCg>tTg	p.S1559L	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1561L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1559					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGTCCTCGTCGGGCGTGGGA	0.547000													37	42					0	0	0.005524	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234753	44234753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:44234753C>T	ENST00000330884.4	-	4	622	c.502G>A	c.(502-504)Gat>Aat	p.D168N	SULT4A1_ENST00000249130.5_Missense_Mutation_p.D168N|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	168					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TCACGCTTATCATTCATAAAC	0.572000													8	38					0	0	0.004482	0	0
HTR2C	3358	broad.mit.edu	37	X	114141517	114141517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:114141517G>A	ENST00000276198.1	+	6	1644	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.E306K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	306					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TATCAACAATGAAAGAAAAGC	0.443000													40	32					0	0	0.006999	0	0
EP400	57634	broad.mit.edu	37	12	132522320	132522320	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:132522320C>T	ENST00000333577.4	+	32	6262	c.6153C>T	c.(6151-6153)tcC>tcT	p.S2051S	EP400_ENST00000330386.6_Silent_p.S1934S|EP400_ENST00000389561.2_Silent_p.S2015S|EP400_ENST00000389562.2_Silent_p.S2014S|EP400_ENST00000332482.4_Silent_p.S1978S			Q96L91	EP400_HUMAN	E1A binding protein p400	2051	Helicase C-terminal.				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)		ATGACTACTCCATGGCTTTCT	0.473000													8	36					0	0	0.003080	0	0
TDRD6	221400	broad.mit.edu	37	6	46657732	46657732	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:46657732A>T	ENST00000544460.1	+	1	2121	c.1867A>T	c.(1867-1869)Act>Tct	p.T623S	TDRD6_ENST00000316081.6_Missense_Mutation_p.T623S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	623					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTTAAAAAGACTGTGCTCCA	0.398000													9	14					0	0	0.004482	0	0
CELSR1	9620	broad.mit.edu	37	22	46930693	46930693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:46930693G>A	ENST00000262738.3	-	1	2374	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	CELSR1_ENST00000395964.1_Missense_Mutation_p.S792F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	792	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTGTAATGGGAGCTCTGAAA	0.582000													21	22					0	0	0.001523	0	0
KRT78	196374	broad.mit.edu	37	12	53238393	53238393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:53238393C>T	ENST00000359499.4	-	5	552	c.541G>A	c.(541-543)Gag>Aag	p.E181K	KRT78_ENST00000304620.4_Missense_Mutation_p.E291K			Q8N1N4	K2C78_HUMAN	keratin 78	291	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity	p.E291*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGCGATCTCCTCGTACCGG	0.622000													10	49					0	0	0.006214	0	0
OR4E2	26686	broad.mit.edu	37	14	22133482	22133482	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22133482C>T	ENST00000408935.1	+	1	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGTATTTCTTCCTGAGCAATC	0.423000													92	223					0	0	0.003610	0	0
OR2G6	391211	broad.mit.edu	37	1	248685747	248685747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248685747C>T	ENST00000343414.4	+	1	832	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATAGGAGATCCAAAAACCAG	0.443000													29	119					0	0	0.002445	0	0
MIR518C	574477	broad.mit.edu	37	19	54212022	54212022	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54212022G>A	ENST00000384822.1	+	0	34					NR_030199.1																						TCTCTGGAGGGAAGCACTTTC	0.403000													13	29					0	0	0.002450	0	0
SLC9A8	23315	broad.mit.edu	37	20	48481306	48481306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:48481306C>T	ENST00000417961.1	+	10	1141	c.931C>T	c.(931-933)Cct>Tct	p.P311S	SLC9A8_ENST00000361573.2_Missense_Mutation_p.P295S|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Missense_Mutation_p.P76S	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	295						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GAGGAAAACGCCTTCCTTGGA	0.448000													16	64					0	0	0.004990	0	0
TRIM58	25893	broad.mit.edu	37	1	248031151	248031151	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248031151T>G	ENST00000366481.3	+	4	800	c.752T>G	c.(751-753)gTg>gGg	p.V251G		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	251						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCAGGGTGTGAGAGGAGTC	0.468000													32	54					0	0	0.003271	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141013	143141013	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143141013C>T	ENST00000332690.1	+	1	468	c.468C>T	c.(466-468)acC>acT	p.T156T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	156					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCTTCACCACCATTCTATTTT	0.473000													69	105					0	0	0.003610	0	0
OR4D11	219986	broad.mit.edu	37	11	59271645	59271645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:59271645G>A	ENST00000313253.1	+	1	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTCTTGATGATTTCCAACA	0.498000													51	102					0	0	0.003610	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129810956	129810956	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:129810956G>A	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							CAGAACCTGAGGACCCAGACA	0.637000													6	6					0	0	0.001984	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265588	22265588	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22265588G>A	ENST00000390430.2	+	0	130																											CCACAGCTCAGCCATGCTCCT	0.493000													6	19					0	0	0.001168	0	0
MYB	4602	broad.mit.edu	37	6	135521527	135521527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:135521527C>T	ENST00000341911.5	+	13	2123	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S	MYB_ENST00000527615.1_Missense_Mutation_p.P521S|MYB_ENST00000442647.2_Missense_Mutation_p.P518S|MYB_ENST00000534044.1_Missense_Mutation_p.P521S|MYB_ENST00000316528.8_Missense_Mutation_p.P521S|MYB_ENST00000528774.1_Missense_Mutation_p.P639S|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Missense_Mutation_p.P521S|MYB_ENST00000534121.1_Missense_Mutation_p.P626S|MYB_ENST00000525369.1_Missense_Mutation_p.P436S|MYB_ENST00000533624.1_Missense_Mutation_p.P486S	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AAATGGACCACCCTTACTGAA	0.443000			T	NFIB	adenoid cystic carcinoma								7	22					0	0	0.003080	0	0
SMG5	23381	broad.mit.edu	37	1	156235791	156235791	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156235791A>G	ENST00000361813.5	-	12	1780	c.1636T>C	c.(1636-1638)Tca>Cca	p.S546P	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	546					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGAGCCTCTGATCTGCCCCGA	0.577000													10	64					0	0	0.001368	0	0
RANBP17	64901	broad.mit.edu	37	5	170610355	170610355	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:170610355T>G	ENST00000523189.1	+	18	2123	c.1959T>G	c.(1957-1959)agT>agG	p.S653R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	653					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGGCATCAGTGACAATCATA	0.388000			T	TRD@	ALL								21	40					0	0	0.003330	0	0
UGT2B28	54490	broad.mit.edu	37	4	70148315	70148315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70148315C>T	ENST00000335568.5	+	2	807	c.805C>T	c.(805-807)Cca>Tca	p.P269S	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P269S	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	269					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTTCCTCATCCATTCTTACC	0.408000													55	124					0	0	0.003610	0	0
LCE3D	84648	broad.mit.edu	37	1	152552341	152552341	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152552341C>T	ENST00000368787.3	-	2	128	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	24					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GTACTGGGCTCTTTGGGGGAC	0.617000													62	90					0	0	0.003610	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976420	47976420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:47976420G>A	ENST00000543600.1	-	2	845	c.806C>T	c.(805-807)aCc>aTc	p.T269I	PTCHD4_ENST00000339488.4_Missense_Mutation_p.T286I			Q6ZW05	CF138_HUMAN	patched domain containing 4	286	SSD.					integral to membrane	hedgehog receptor activity										CTTTCCATCGGTGATGAAGAA	0.537000													8	13					0	0	0.006214	0	0
BTBD1	53339	broad.mit.edu	37	15	83699002	83699002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:83699002C>T	ENST00000261721.4	-	5	1143	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R314Q|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	314						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTATTCAACTCGGGGTTTAGG	0.448000													67	127					0	0	0.003610	0	0
GMPPB	29925	broad.mit.edu	37	3	49759379	49759379	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49759379G>A	ENST00000308375.6	-	8	1194	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	GMPPB_ENST00000480687.1_Intron|AMIGO3_ENST00000535833.1_Intron|GMPPB_ENST00000308388.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	317					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCCACCCAGCCCAGCCCAC	0.657000													19	40					0	0	0.008871	0	0
MFSD3	113655	broad.mit.edu	37	8	145736175	145736175	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:145736175A>C	ENST00000301327.4	+	4	1215		c.e4-1			NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCCCTCCCAGGGTCAGCCT	0.632000													21	29					0	0	0.008871	0	0
SLC36A2	153201	broad.mit.edu	37	5	150718687	150718687	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:150718687G>A	ENST00000335244.4	-	5	588	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SLC36A2_ENST00000521967.1_Silent_p.F153F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	153					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATAATAAGGAAGAAGCTCA	0.403000													32	35					0	0	0.003271	0	0
NLRP3	114548	broad.mit.edu	37	1	247587615	247587615	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247587615C>T	ENST00000366497.2	+	4	1650	c.870C>T	c.(868-870)atC>atT	p.I290I	NLRP3_ENST00000348069.2_Silent_p.I290I|NLRP3_ENST00000391828.3_Silent_p.I290I|NLRP3_ENST00000366496.2_Silent_p.I290I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.I290I|NLRP3_ENST00000391827.2_Silent_p.I290I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	290	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCACAAGATCGTGAGAAAAC	0.562000													32	93					0	0	0.008361	0	0
SMG8	55181	broad.mit.edu	37	17	57290928	57290928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:57290928C>T	ENST00000543872.2	+	4	3008	c.2744C>T	c.(2743-2745)cCt>cTt	p.P915L	SMG8_ENST00000300917.5_Missense_Mutation_p.P915L|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	915					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTTGTGGTTCCTGATGCTCCT	0.393000													45	110					0	0	0.003610	0	0
ITGA10	8515	broad.mit.edu	37	1	145541455	145541455	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:145541455C>T	ENST00000369304.3	+	28	3418	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	ITGA10_ENST00000539363.1_Silent_p.S938S|ITGA10_ENST00000538811.1_Silent_p.S950S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1081					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTTCAAGTCCCTGACGGTGG	0.502000													11	21					0	0	0.000978	0	0
GBX1	2636	broad.mit.edu	37	7	150864110	150864110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150864110G>A	ENST00000297537.4	-	1	525	c.526C>T	c.(526-528)Cca>Tca	p.P176S	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	176	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGACTTGGAAAAGTCTCT	0.652000													28	76					0	0	0.001786	0	0
CDH6	1004	broad.mit.edu	37	5	31299719	31299719	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:31299719C>T	ENST00000265071.2	+	5	1057	c.792C>T	c.(790-792)aaC>aaT	p.N264N	CDH6_ENST00000514738.1_Silent_p.N209N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	264	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAACGACAACCCTCCCCGAT	0.428000													30	29					0	0	0.004289	0	0
NR2F1	7025	broad.mit.edu	37	5	92929449	92929449	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:92929449C>T	ENST00000327111.3	+	3	2860	c.1173C>T	c.(1171-1173)gtC>gtT	p.V391V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	391					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TCTTCTTCGTCCGTTTGGTAG	0.567000													64	42					0	0	0.003610	0	0
LAMB2	3913	broad.mit.edu	37	3	49159424	49159424	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49159424G>C	ENST00000418109.1	-	30	5040	c.4876C>G	c.(4876-4878)Cgg>Ggg	p.R1626G	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1626G	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1626	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGCCCCCCGGATGGCACCC	0.607000													36	63					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179585223	179585223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179585223C>T	ENST00000589042.1	-	80	23490	c.23266G>A	c.(23266-23268)Gat>Aat	p.D7756N	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7439N|TTN_ENST00000342992.6_Missense_Mutation_p.D6512N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7439	Ig-like 59.						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)			AGACTTGTATCAAAATGTTTT	0.393000													53	25					0	0	0.003610	0	0
MSRB3	253827	broad.mit.edu	37	12	65847548	65847548	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:65847548C>T	ENST00000308259.5	+	6	607	c.333C>T	c.(331-333)atC>atT	p.I111I	MSRB3_ENST00000355192.3_Silent_p.I118I|MSRB3_ENST00000535664.1_Silent_p.I111I|MSRB3_ENST00000540804.1_Silent_p.I118I	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	118					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTGAGGCAATCACATTCACAG	0.468000													28	75					0	0	0.002445	0	0
NICN1	84276	broad.mit.edu	37	3	49466624	49466624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49466624G>A	ENST00000273598.3	-	1	135	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	NICN1_ENST00000436744.2_Nonsense_Mutation_p.Q17*|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	17						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGCCCACCTGGAGGGCTACG	0.657000													15	21					0	0	0.004990	0	0
SNHG1	23642	broad.mit.edu	37	11	62622506	62622506	+	RNA	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:62622506T>C	ENST00000363981.1	-	0	49					NR_002563.1																						TAAGATGACATCACTTGAAAG	0.393000													28	73					0	0	0.001786	0	0
VPS41	27072	broad.mit.edu	37	7	38783141	38783141	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:38783141G>A	ENST00000310301.4	-	24	2037	c.1981_splice	c.e24-1	p.S661_splice	VPS41_ENST00000395969.2_Splice_Site_p.S636_splice	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	661					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TACCCATTCGGCCTTGGTGGG	0.368000													71	36					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152784511	152784511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152784511C>T	ENST00000367255.5	-	19	2675	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	SYNE1_ENST00000367248.3_Missense_Mutation_p.E682K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E259K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E692K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E692K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E699K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E692K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E699K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E692K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E699K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	692					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAAACAACTCCCTCCACCGC	0.413000										HNSCC(10;0.0054)			27	104					0	0	0.006320	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575369	86575369	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:86575369G>A	ENST00000322911.6	-	7	662	c.612C>T	c.(610-612)ctC>ctT	p.L204L	MTHFSD_ENST00000381214.5_Silent_p.L205L|MTHFSD_ENST00000543303.2_Silent_p.L204L|MTHFSD_ENST00000546093.1_Silent_p.L42L|MTHFSD_ENST00000360900.6_Silent_p.L205L	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	205					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGTTGGAGTGAGGATGTAGT	0.582000													29	60					0	0	0.005443	0	0
MLXIP	22877	broad.mit.edu	37	12	122616872	122616872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:122616872C>T	ENST00000319080.6	+	8	1166	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	345	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTTTTGGCTCCATGCTACCT	0.552000													5	13					0	0	0.003080	0	0
OR2A12	346525	broad.mit.edu	37	7	143793082	143793082	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143793082A>C	ENST00000408949.2	+	1	942	c.882A>C	c.(880-882)gcA>gcC	p.A294A		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTAGGAATGCAGAGGTGAAAG	0.458000													86	164					0	0	0.003610	0	0
LAMA5	3911	broad.mit.edu	37	20	60889937	60889937	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:60889937A>C	ENST00000252999.3	-	60	8180	c.8114T>G	c.(8113-8115)gTg>gGg	p.V2705G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2705	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGTTGTGCACCCCACGGTT	0.672000													36	69					0	0	0.003271	0	0
ATAD3C	219293	broad.mit.edu	37	1	1389841	1389841	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:1389841C>T	ENST00000378785.2	+	4	1334	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	113							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAGACGTCCCGCATCACGG	0.667000													9	22					0	0	0.006214	0	0
CACNA1C	775	broad.mit.edu	37	12	2693758	2693758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:2693758G>A	ENST00000399655.1	+	16	2579	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	CACNA1C_ENST00000399603.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E772K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E772K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E772K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E797K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E772K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E772K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E772K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	772	Poly-Glu.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ggaggaagaggagaaggagag	0.542000													18	47					0	0	0.007413	0	0
GJA5	2702	broad.mit.edu	37	1	147231251	147231251	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:147231251G>A	ENST00000271348.2	-	2	257	c.96C>T	c.(94-96)ttC>ttT	p.F32F	GJA5_ENST00000369237.1_Silent_p.F32F	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	32					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CGAGCATACGGAATATGAAGA	0.552000													40	63					0	0	0.007835	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438522	25438522	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:25438522C>T	ENST00000424208.1	+	0	1381				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.512000													91	196					0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103205751	103205751	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:103205751G>A	ENST00000424685.2	-	34	5343	c.5184C>T	c.(5182-5184)atC>atT	p.I1728I	RELN_ENST00000343529.5_Silent_p.I1728I|RELN_ENST00000428762.1_Silent_p.I1728I			P78509	RELN_HUMAN	reelin	1728					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTAGACAGTGATCCGCTTCC	0.433000													32	66					0	0	0.004878	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622786	20622786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:20622786G>A	ENST00000525748.1	+	2	388	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	39					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCCGGAGCAGGAGCTTCCCGC	0.721000													4	16					0	0	0.000248	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220344458	220344458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:220344458G>A	ENST00000358951.2	-	24	2698	c.2582C>T	c.(2581-2583)tCc>tTc	p.S861F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	861					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AACTGTTTGGGAAAACTAATA	0.408000													25	57					0	0	0.003330	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409412	56409412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:56409412C>T	ENST00000544374.1	-	1	535	c.507G>A	c.(505-507)atG>atA	p.M169I	OR5AP2_ENST00000302981.1_Missense_Mutation_p.M168I			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ACCTAAAAGTCATCCCTGTAT	0.458000													24	88					0	0	0.003954	0	0
ABCA13	154664	broad.mit.edu	37	7	48559685	48559685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:48559685C>T	ENST00000435803.1	+	53	13870	c.13846C>T	c.(13846-13848)Cct>Tct	p.P4616S	ABCA13_ENST00000544596.1_Missense_Mutation_p.P346S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4616					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACTATTTTTCCTCAATTCTG	0.368000													43	23					0	0	0.002852	0	0
MUC17	140453	broad.mit.edu	37	7	100678548	100678548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100678548C>T	ENST00000306151.4	+	3	3915	c.3851C>T	c.(3850-3852)cCt>cTt	p.P1284L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1284	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATACCTGTCAGCACC	0.473000													74	177					0	0	0.003610	0	0
A2M	2	broad.mit.edu	37	12	9230360	9230360	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:9230360G>A	ENST00000318602.7	-	26	3520	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1071					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCTGCCTCTGGGAGAGCCATA	0.478000													33	48					0	0	0.006230	0	0
SYT17	51760	broad.mit.edu	37	16	19236021	19236021	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19236021C>T	ENST00000562034.1	+	5	4704	c.906C>T	c.(904-906)atC>atT	p.I302I	SYT17_ENST00000568433.1_Silent_p.I57I|SYT17_ENST00000568115.1_Silent_p.I302I|SYT17_ENST00000562711.2_Silent_p.I359I|SYT17_ENST00000355377.2_Silent_p.I363I			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	363						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTGTGAAAATCCAGCTGGTGC	0.428000													26	37					0	0	0.006320	0	0
OR4C3	256144	broad.mit.edu	37	11	48347299	48347299	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48347299C>T	ENST00000319856.4	+	1	828	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGCCCACTTCATTGTTGTTG	0.438000													27	83					0	0	0.006320	0	0
TRHDE	29953	broad.mit.edu	37	12	72969148	72969148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:72969148C>T	ENST00000261180.4	+	11	2206	c.2110C>T	c.(2110-2112)Caa>Taa	p.Q704*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	704					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTAATTGATCAATTAATCCG	0.343000													20	40					0	0	0.001882	0	0
GLYAT	10249	broad.mit.edu	37	11	58477521	58477521	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58477521G>A	ENST00000344743.3	-	6	750	c.609C>T	c.(607-609)acC>acT	p.T203T	GLYAT_ENST00000529732.1_Silent_p.T203T	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	203					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AGGTGGGAAAGGTCTGAATGC	0.522000													19	55					0	0	0.002299	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860460	43860460	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:43860460G>A	ENST00000389420.3	-	9	1361	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	ADAMTS20_ENST00000553158.1_Silent_p.F454F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	454	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTACTCTAGGAATTCAGTAA	0.299000													24	48					0	0	0.004656	0	0
C4orf50	389197	broad.mit.edu	37	4	5961113	5961113	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:5961113A>G	ENST00000531445.1	-	7	2288	c.2242T>C	c.(2242-2244)Tta>Cta	p.L748L	C4orf50_ENST00000324058.5_Silent_p.L274L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	274										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TACATTTCTAACTCCAGCGGT	0.453000													36	79					0	0	0.002522	0	0
ZNF609	23060	broad.mit.edu	37	15	64915042	64915042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:64915042C>T	ENST00000326648.3	+	2	892	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	255						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCCCTGTTTCCACACCAGCA	0.463000													58	129					0	0	0.003610	0	0
PTPRO	5800	broad.mit.edu	37	12	15637040	15637040	+	Missense_Mutation	SNP	G	G	A	rs147697088		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:15637040G>A	ENST00000281171.4	+	2	538	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	PTPRO_ENST00000543886.1_Missense_Mutation_p.E70K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E70K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	70	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATTTCTTCGAATTTGAGGA	0.368000													20	55					0	0	0.001523	0	0
FGL2	10875	broad.mit.edu	37	7	76826196	76826196	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:76826196A>C	ENST00000248598.5	-	2	752	c.720T>G	c.(718-720)gtT>gtG	p.V240V	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	240	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGTCACAGTAAACTTCAAAGC	0.463000													48	82					0	0	0.003610	0	0
PTPRB	5787	broad.mit.edu	37	12	70953405	70953405	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:70953405C>T	ENST00000334414.6	-	18	4477		c.e18-1		PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000551525.1_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						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)			GGACTTGGAGCTGAATGTAGG	0.418000													8	19					0	0	0.003080	0	0
ABCG8	64241	broad.mit.edu	37	2	44079832	44079832	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:44079832G>A	ENST00000272286.2	+	6	879	c.789G>A	c.(787-789)cgG>cgA	p.R263R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	263	ABC transporter.		R -> Q (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGGCAACCGGCTGGTGCTCA	0.582000													242	145					0	0	0.003610	0	0
TFF1	7031	broad.mit.edu	37	21	43783428	43783428	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:43783428G>A	ENST00000291527.2	-	2	272	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	58	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						CGGTGTCGTCGAAACAGCAGC	0.517000													17	45					0	0	0.004007	0	0
GNB2	2783	broad.mit.edu	37	7	100275174	100275174	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100275174C>T	ENST00000303210.4	+	6	803	c.321C>T	c.(319-321)ccC>ccT	p.P107P	GNB2_ENST00000424361.1_Silent_p.P63P|GNB2_ENST00000436220.1_Silent_p.P63P|GNB2_ENST00000427895.1_Silent_p.P7P|GNB2_ENST00000393926.1_Silent_p.P107P|GNB2_ENST00000419828.1_Silent_p.P7P|GNB2_ENST00000393924.1_Silent_p.P107P	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	107					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCTACGCGCCCTCAGGGAACT	0.667000													45	71					0	0	0.003214	0	0
PTPRD	5789	broad.mit.edu	37	9	8504401	8504401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:8504401C>T	ENST00000381196.4	-	20	2225	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	PTPRD_ENST00000397611.3_Missense_Mutation_p.R558Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R558Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R548Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R548Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTAATTCGTTGCTGGAA	0.433000										TSP Lung(15;0.13)			35	89					0	0	0.005524	0	0
GART	2618	broad.mit.edu	37	21	34889366	34889366	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:34889366G>A	ENST00000381831.3	-	16	2300	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	GART_ENST00000543717.1_Silent_p.A231A|GART_ENST00000381815.4_Silent_p.A679A|GART_ENST00000381839.3_Silent_p.A679A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	679	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAGTAATATGGGCAAAGGCTT	0.458000													36	80					0	0	0.003755	0	0
AOC4P	90586	broad.mit.edu	37	17	41020120	41020120	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:41020120G>A	ENST00000585538.1	+	0	959					NR_002773.1																						GCCTGGCCCAGCTGGAGGCCC	0.617000													9	27					0	0	0.008291	0	0
SPEF2	79925	broad.mit.edu	37	5	35793314	35793314	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:35793314G>A	ENST00000440995.2	+	32	4593	c.4593G>A	c.(4591-4593)cgG>cgA	p.R1531R	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.R1536R|SPEF2_ENST00000303129.4_Silent_p.R333R			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1536					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGACTGGCGGAAGTTCCTGT	0.438000													18	49					0	0	0.007413	0	0
C10orf76	79591	broad.mit.edu	37	10	103789475	103789475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:103789475G>A	ENST00000370033.4	-	5	453	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	C10orf76_ENST00000311122.5_Missense_Mutation_p.H112Y	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	112						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTCTTTTGATGGACTCCTCGA	0.478000													24	24					0	0	0.003954	0	0
NLRP13	126204	broad.mit.edu	37	19	56423350	56423350	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56423350C>T	ENST00000588751.1	-	5	1857	c.1833G>A	c.(1831-1833)agG>agA	p.R611R	NLRP13_ENST00000342929.3_Silent_p.R611R			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	611							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTCCATTACCCTGGGAGATA	0.398000													18	36					0	0	0.004990	0	0
FREM2	341640	broad.mit.edu	37	13	39262895	39262895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:39262895G>A	ENST00000280481.7	+	1	1630	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	472					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTCATCAGCGATGAGGATGA	0.592000													20	23					0	0	0.001882	0	0
SPRR4	163778	broad.mit.edu	37	1	152944417	152944417	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152944417G>A	ENST00000328051.2	+	2	100	c.51G>A	c.(49-51)agG>agA	p.R17R		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	17	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCCAGAGGGCCCAGCAGC	0.582000													55	93					0	0	0.003610	0	0
ICA1L	130026	broad.mit.edu	37	2	203693702	203693702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:203693702C>T	ENST00000392237.2	-	3	188	c.31G>A	c.(31-33)Gat>Aat	p.D11N	ICA1L_ENST00000358299.2_Missense_Mutation_p.D11N|ICA1L_ENST00000418208.1_Missense_Mutation_p.D11N|ICA1L_ENST00000425178.1_Missense_Mutation_p.D11N	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	11										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACTGATTATCTTCTGGTCTG	0.383000													278	145					0	0	0.003610	0	0
ALPK2	115701	broad.mit.edu	37	18	56205350	56205350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:56205350G>A	ENST00000361673.3	-	5	2282	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	690							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTTGAGAAGGAAATTGTTGT	0.493000													11	27					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	142567858	142567858	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:142567858A>G	ENST00000389484.3	-	2	1166	c.195T>C	c.(193-195)tcT>tcC	p.S65S	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	65	LDL-receptor class A 1.				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)		AGGTATCTAAAGACTCGTCTG	0.458000										TSP Lung(27;0.18)			27	16					0	0	0.006320	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64599113	64599113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:64599113C>T	ENST00000498707.1	-	22	3604	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1060N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1088	TSP type-1 5.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACATTCTATCATTTAATCGA	0.517000													142	314					0	0	0.003610	0	0
NOTCH3	4854	broad.mit.edu	37	19	15272507	15272507	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:15272507G>A	ENST00000263388.2	-	33	6007	c.5932C>T	c.(5932-5934)Ctg>Ttg	p.L1978L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1978					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGCGGCCAGGAATAGGGGG	0.637000													11	20					0	0	0.000978	0	0
COL17A1	1308	broad.mit.edu	37	10	105815669	105815669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:105815669C>T	ENST00000353479.5	-	18	1848	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	COL17A1_ENST00000369733.3_Missense_Mutation_p.E520K|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	520	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGGTCCTTTTCTATTCTATCC	0.592000													46	48					0	0	0.003610	0	0
CACYBP	27101	broad.mit.edu	37	1	174977763	174977763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:174977763C>T	ENST00000367681.2	+	5	962	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	CACYBP_ENST00000367679.2_Missense_Mutation_p.L151F|CACYBP_ENST00000405362.1_Missense_Mutation_p.L108F	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	151	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATACAGTTCTTATATTGTG	0.343000													24	74					0	0	0.003954	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622086	106622086	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106622086C>T	ENST00000390604.2	-	0	232																											GGGCCCAGTTCATGTCACTGT	0.592000													79	61					0	0	0.003610	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048491	90048491	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:90048491G>A	ENST00000330947.2	+	5	642	c.282G>A	c.(280-282)caG>caA	p.Q94Q	LRRC8B_ENST00000358200.4_Silent_p.Q94Q|LRRC8B_ENST00000439853.1_Silent_p.Q94Q	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	94						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCCGAATTCAGAATGACCTCC	0.502000													31	79					0	0	0.003271	0	0
ASB17	127247	broad.mit.edu	37	1	76397911	76397911	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:76397911G>A	ENST00000284142.6	-	1	205	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	22					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTTTGTCAAGGAGATTGCAGA	0.358000													21	54					0	0	0.001523	0	0
BZRAP1	9256	broad.mit.edu	37	17	56384997	56384997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:56384997G>A	ENST00000355701.3	-	24	5828	c.4958C>T	c.(4957-4959)cCc>cTc	p.P1653L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1653L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1593L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1653	SH3 2.					mitochondrion	benzodiazepine receptor binding	p.P1653F(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCTCGGAAGGGAAGCTCTTC	0.547000													16	25					0	0	0.004007	0	0
DCAF11	80344	broad.mit.edu	37	14	24588358	24588358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:24588358G>A	ENST00000446197.3	+	9	1511	c.784G>A	c.(784-786)Gat>Aat	p.D262N	DCAF11_ENST00000559115.1_Missense_Mutation_p.D262N|DCAF11_ENST00000396936.1_Missense_Mutation_p.D162N|DCAF11_ENST00000396941.4_Missense_Mutation_p.D236N	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	262						CUL4 RING ubiquitin ligase complex	protein binding										TTTTAGGCCAGATGAGCGTCG	0.468000													46	121					0	0	0.003610	0	0
VAV1	7409	broad.mit.edu	37	19	6828654	6828654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:6828654G>A	ENST00000304076.2	+	12	1208	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	VAV1_ENST00000539284.1_Missense_Mutation_p.E275K|VAV1_ENST00000599806.1_Missense_Mutation_p.E317K|VAV1_ENST00000596764.1_Missense_Mutation_p.E340K|VAV1_ENST00000602142.1_Missense_Mutation_p.E372K	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	372	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCGTGAACGAGGTCAAGCG	0.637000													64	158					0	0	0.003610	0	0
FCRL2	79368	broad.mit.edu	37	1	157737347	157737347	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:157737347A>G	ENST00000469986.1	-	1	217	c.77T>C	c.(76-78)cTa>cCa	p.L26P	FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000361516.3_Intron			Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	0	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGCCTCAATAGATTCACAAA	0.522000													52	100					0	0	0.003610	0	0
ADORA3	140	broad.mit.edu	37	1	112031474	112031474	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:112031474G>A	ENST00000369716.4	-	3	763	c.630C>T	c.(628-630)gcC>gcT	p.A210A	ADORA3_ENST00000369717.4_Silent_p.A129A	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A129A(1)|p.A210A(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGTCCCTCAGGGCCACATGAT	0.552000													36	30					0	0	0.003755	0	0
OR4A5	81318	broad.mit.edu	37	11	51411660	51411660	+	Missense_Mutation	SNP	G	G	A	rs146541729		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:51411660G>A	ENST00000319760.6	-	1	788	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAAAAAAGAGGACAACAACG	0.403000													11	28					0	0	0.008291	0	0
CNGB3	54714	broad.mit.edu	37	8	87641194	87641194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:87641194C>T	ENST00000320005.5	-	12	1480	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	478					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTCCGAACTCGCTTTTGCAC	0.423000													55	130					0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124979720	124979720	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:124979720G>A	ENST00000356219.3	-	2	233	c.78C>T	c.(76-78)taC>taT	p.Y26Y	NCOR2_ENST00000429285.2_Silent_p.Y26Y|NCOR2_ENST00000404621.1_Silent_p.Y26Y|NCOR2_ENST00000397355.1_Silent_p.Y26Y|NCOR2_ENST00000405201.1_Silent_p.Y26Y|NCOR2_ENST00000404121.2_5'UTR	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	26					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTGCACTGGGTAGGAAAGGC	0.652000													16	28					0	0	0.001523	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590526	137590526	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:137590526A>T	ENST00000330387.6	-	6	1188	c.837T>A	c.(835-837)taT>taA	p.Y279*	CREB3L2_ENST00000456390.1_Nonsense_Mutation_p.Y279*	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	279					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGGGGATGGGATAGCCCTCAG	0.512000			T	FUS	fibromyxoid sarcoma								49	116					0	0	0.003610	0	0
SAMD9	54809	broad.mit.edu	37	7	92734479	92734479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:92734479G>A	ENST00000379958.2	-	3	1201	c.932C>T	c.(931-933)cCa>cTa	p.P311L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	311						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGAACTGTGGAATAATGTC	0.333000													25	33					0	0	0.002780	0	0
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:10934997C>T	ENST00000298232.7	-	14	1109	c.741_splice	c.e14-1	p.E248_splice	TPTE_ENST00000342420.5_Splice_Site_p.E228_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.E266_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCACAACTTCCTAAAAAAGA	0.333000													11	113					0	0	0.000978	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824331	70824331	+	Silent	SNP	C	C	T	rs140967177	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:70824331C>T	ENST00000258111.4	+	3	990	c.531C>T	c.(529-531)ccC>ccT	p.P177P		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	177					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCCTCTGGCCCCTGGTGACAT	0.512000													58	106					0	0	0.003610	0	0
PKN1	5585	broad.mit.edu	37	19	14580207	14580207	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:14580207C>T	ENST00000242783.6	+	16	2196	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	PKN1_ENST00000342216.4_Silent_p.F683F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	677	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACACCCCTTCCTGGTGAACC	0.612000													34	93					0	0	0.002836	0	0
DMXL2	23312	broad.mit.edu	37	15	51773612	51773612	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:51773612G>A	ENST00000251076.5	-	24	5978	c.5691C>T	c.(5689-5691)tgC>tgT	p.C1897C	DMXL2_ENST00000449909.3_Silent_p.C1261C|DMXL2_ENST00000543779.2_Silent_p.C1897C|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1897						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTAAAACAGGGCATCCAACTT	0.358000													42	95					0	0	0.002522	0	0
NEDD4	4734	broad.mit.edu	37	15	56130018	56130018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:56130018C>T	ENST00000508342.1	-	20	3787	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q	NEDD4_ENST00000506154.1_Missense_Mutation_p.R1147Q|NEDD4_ENST00000435532.3_Missense_Mutation_p.R744Q|NEDD4_ENST00000338963.2_Missense_Mutation_p.R1091Q			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1163	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CTTCTGGATTCGGTTTACAAA	0.318000													12	28					0	0	0.002450	0	0
RGS18	64407	broad.mit.edu	37	1	192153488	192153488	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:192153488A>C	ENST00000367460.3	+	5	693	c.512A>C	c.(511-513)cAc>cCc	p.H171P		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	171	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTACCCTCCACAGTTTTGAT	0.363000													20	66					0	0	0.002299	0	0
ARSF	416	broad.mit.edu	37	X	3028241	3028241	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:3028241C>T	ENST00000381127.1	+	10	1559	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	ARSF_ENST00000537104.1_Silent_p.F446F|ARSF_ENST00000359361.2_Silent_p.F446F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	446						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				AATTTCTTTTCCACTACTGTG	0.582000													35	20					0	0	0.004289	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270431	1270431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:1270431G>A	ENST00000348261.5	+	35	6747	c.6499G>A	c.(6499-6501)Gag>Aag	p.E2167K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2161K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2161K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2167					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGAGCCTGGGGAGGCGAAGGC	0.711000													11	27					0	0	0.001368	0	0
TBL3	10607	broad.mit.edu	37	16	2025694	2025694	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:2025694C>T	ENST00000568546.1	+	10	1098	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	324					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GGCTCGCTCCCTGCGGCTGCA	0.667000													13	30					0	0	0.004007	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371842	19371842	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:19371842C>T	ENST00000291481.7	-	3	327	c.264G>A	c.(262-264)aaG>aaA	p.K88K	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	88	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGTCCACCACCTTTGTCCACT	0.677000													24	43					0	0	0.005443	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515377	26515377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:26515377G>A	ENST00000531191.1	+	19	2038	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	CNKSR1_ENST00000374253.5_Missense_Mutation_p.R609Q|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R602Q			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	609	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCATGCGGCGCAACCGA	0.652000													44	77					0	0	0.003214	0	0
DOT1L	84444	broad.mit.edu	37	19	2222480	2222480	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:2222480C>T	ENST00000398665.3	+	24	3348	c.3312C>T	c.(3310-3312)tcC>tcT	p.S1104S		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1104						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCGTGTCCCCCAAGCGCC	0.701000													9	26					0	0	0.004482	0	0
ARHGAP5	394	broad.mit.edu	37	14	32615491	32615491	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:32615491C>T	ENST00000345122.3	+	4	4203	c.3888C>T	c.(3886-3888)taC>taT	p.Y1296Y	ARHGAP5_ENST00000556611.1_Silent_p.Y1295Y|ARHGAP5_ENST00000433497.1_Silent_p.Y35Y|ARHGAP5_ENST00000396582.2_Silent_p.Y31Y|ARHGAP5_ENST00000432921.1_Silent_p.Y1295Y|ARHGAP5_ENST00000539826.2_Silent_p.Y1296Y	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1296	Rho-GAP.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGGACTCTACCGTGTCAGCG	0.348000													13	30					0	0	0.003163	0	0
SFMBT2	57713	broad.mit.edu	37	10	7217970	7217970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:7217970G>A	ENST00000361972.4	-	17	2056	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	SFMBT2_ENST00000397167.1_Missense_Mutation_p.H656Y	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	656					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTTTTGGTATGAATGGAGCAG	0.403000													23	39					0	0	0.003954	0	0
SBK2	646643	broad.mit.edu	37	19	56041190	56041190	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56041190G>A	ENST00000413299.1	-	4	994	c.957C>T	c.(955-957)atC>atT	p.I319I	SBK2_ENST00000344158.3_Silent_p.I319I	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	319	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCTGATGGCGATCACAGCGC	0.756000													20	35					0	0	0.002299	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589969	64589969	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:64589969G>A	ENST00000498707.1	-	24	3855	c.3513C>T	c.(3511-3513)gcC>gcT	p.A1171A	ADAMTS9_ENST00000295903.4_Silent_p.A1143A	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1171					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCGTTTCCGGGGCAGCTGGGG	0.488000													100	250					0	0	0.003610	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568772	46568772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46568772G>A	ENST00000458649.2	-	4	687	c.269C>T	c.(268-270)tCc>tTc	p.S90F	AMBRA1_ENST00000426438.1_Missense_Mutation_p.S90F|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S90F|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S90F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S90F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S90F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S90F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	90					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCAATCAGGGAATGAACACA	0.468000													32	72					0	0	0.002836	0	0
TAF1C	9013	broad.mit.edu	37	16	84214762	84214762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84214762G>A	ENST00000567759.1	-	11	1455	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	TAF1C_ENST00000341690.6_Missense_Mutation_p.R332C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R332C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R93C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R425C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R399C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	425					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCCCCAAACGAAAAAGCAAC	0.632000													20	39					0	0	0.001882	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478851	142478851	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142478851C>T	ENST00000603901.1	+	0	12					NR_001296.3																						TGAATCCACTCCTGATCCTTG	0.572000													8	12					0	0	0.006214	0	0
ROS1	6098	broad.mit.edu	37	6	117678977	117678977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117678977G>A	ENST00000368508.3	-	24	4042	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1277S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1282					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTAAAAGAGGATATACAGAA	0.274000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	19					0	0	0.000978	0	0
PELI3	246330	broad.mit.edu	37	11	66243537	66243537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:66243537C>T	ENST00000349459.6	+	7	1521	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.H437Y|CTD-3074O7.5_ENST00000533502.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	437						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACCACTGCCCCACGGCACCCA	0.662000													10	16					0	0	0.000978	0	0
KIAA0430	9665	broad.mit.edu	37	16	15709850	15709850	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:15709850A>G	ENST00000396368.3	-	16	3296	c.3090T>C	c.(3088-3090)tgT>tgC	p.C1030C	KIAA0430_ENST00000551742.1_Silent_p.C1030C|KIAA0430_ENST00000548025.1_Silent_p.C1027C|KIAA0430_ENST00000344181.3_Silent_p.C632C|KIAA0430_ENST00000602337.1_Silent_p.C1027C|KIAA0430_ENST00000540441.2_Silent_p.C865C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1029						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTGCAATGTAACAATCTGGAA	0.383000													39	106					0	0	0.002522	0	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720772	31720772	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:31720772G>A	ENST00000334160.4	-	1	152	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	51						intermediate filament				large_intestine(1)|lung(4)|prostate(1)	6						GCAGAGAGAGGAACCCAGCTG	0.607000													11	32					0	0	0.008291	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410572	32410572	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:32410572C>T	ENST00000382822.2	-	1	223	c.191G>A	c.(190-192)tGa>tAa	p.*64*		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	0						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						GTTCACTCTTCAGTAGAAGGC	0.473000													30	76					0	0	0.002836	0	0
THSD4	79875	broad.mit.edu	37	15	72057427	72057427	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:72057427C>T	ENST00000355327.3	+	16	2792	c.2658C>T	c.(2656-2658)acC>acT	p.T886T	THSD4_ENST00000357769.4_Silent_p.T526T|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.T886T			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	886	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGCAGACACCTTTGAAGTGT	0.512000													40	66					0	0	0.008740	0	0
USH2A	7399	broad.mit.edu	37	1	216052207	216052207	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216052207G>A	ENST00000366943.2	-	42	8843	c.8457C>T	c.(8455-8457)acC>acT	p.T2819T	USH2A_ENST00000307340.3_Silent_p.T2819T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2819					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGAGGTACGGTGGGGTGAG	0.453000										HNSCC(13;0.011)			37	63					0	0	0.004289	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564444	46564444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46564444G>A	ENST00000458649.2	-	7	1541	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q285*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q285*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	375					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTGCTGCTCTGGACTGTACTG	0.627000													52	106					0	0	0.003610	0	0
FER1L6	654463	broad.mit.edu	37	8	125074120	125074120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:125074120C>T	ENST00000522917.1	+	25	3381	c.3175C>T	c.(3175-3177)Ccg>Tcg	p.P1059S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1059S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1059	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTTCTGCACCCGCCACTGAG	0.547000													48	77					0	0	0.003610	0	0
FSTL4	23105	broad.mit.edu	37	5	132552948	132552948	+	Silent	SNP	G	G	A	rs111394662		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:132552948G>A	ENST00000265342.7	-	13	1830	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	527						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGGATGTCGACCACAAGGA	0.502000													33	27					0	0	0.004878	0	0
OR4K2	390431	broad.mit.edu	37	14	20344634	20344634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20344634G>A	ENST00000298642.2	+	1	244	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCAATCATTGATATGTCTCT	0.423000													47	203					0	0	0.003610	0	0
LRRC16A	55604	broad.mit.edu	37	6	25450225	25450225	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:25450225T>G	ENST00000329474.6	+	6	837		c.e6+2		LRRC16A_ENST00000377969.3_Splice_Site	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCCCTGTGGTGAGCATGCAT	0.507000													5	51					0	0	0.001168	0	0
IDO2	169355	broad.mit.edu	37	8	39872876	39872876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:39872876G>A	ENST00000502986.2	+	11	1260	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	IDO2_ENST00000389060.4_Missense_Mutation_p.D327N|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	327					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ATCTGGACAGGACCACTTGCT	0.522000													14	36					0	0	0.002450	0	0
TMC5	79838	broad.mit.edu	37	16	19452014	19452014	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19452014C>T	ENST00000396229.2	+	3	1403	c.654C>T	c.(652-654)ccC>ccT	p.P218P	TMC5_ENST00000541464.1_Silent_p.P218P|TMC5_ENST00000542583.2_Silent_p.P218P|TMC5_ENST00000381414.4_Silent_p.P218P	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	218						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCTCCACCCTTTTTTGGGG	0.448000													25	57					0	0	0.003954	0	0
RAG2	5897	broad.mit.edu	37	11	36615272	36615272	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:36615272C>T	ENST00000311485.3	-	2	608	c.447G>A	c.(445-447)ggG>ggA	p.G149G		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	149					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)				CCATACTTTTCCCTCGGCTGT	0.453000									Familial Hemophagocytic Lymphohistiocytosis				37	97					0	0	0.006230	0	0
SIAH3	283514	broad.mit.edu	37	13	46357845	46357845	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:46357845G>A	ENST00000400405.2	-	2	589	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	161					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GGCCAAGGCAGGAGTGCATGA	0.597000													11	13					0	0	0.008291	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:14880876C>T	ENST00000403951.2	-	2	432	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_ENST00000407950.1_Missense_Mutation_p.E5K|DGKB_ENST00000406247.3_Missense_Mutation_p.E5K|DGKB_ENST00000399322.3_Missense_Mutation_p.E5K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E5K|DGKB_ENST00000402815.1_Missense_Mutation_p.E5K|DGKB_ENST00000444700.2_Missense_Mutation_p.E5K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	5					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCATTTTTCCTGGTTTGTC	0.403000													27	25					0	0	0.001786	0	0
LDB2	9079	broad.mit.edu	37	4	16510279	16510279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:16510279C>T	ENST00000502640.1	-	7	918	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	LDB2_ENST00000503178.2_Missense_Mutation_p.R133Q|LDB2_ENST00000515064.1_Missense_Mutation_p.R257Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R257Q|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000304523.5_Missense_Mutation_p.R257Q			O43679	LDB2_HUMAN	LIM domain binding 2	257							LIM domain binding|transcription cofactor activity	p.R257Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CCTTTTTCTCCGTTTGGTTGT	0.478000													20	46					0	0	0.001882	0	0
SULT1B1	27284	broad.mit.edu	37	4	70592812	70592812	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70592812C>T	ENST00000310613.2	-	8	1182	c.885G>A	c.(883-885)gaG>gaA	p.E295E		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	295					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CACTTTAAATCTCTGTGCGGA	0.368000													17	33					0	0	0.007413	0	0
USH2A	7399	broad.mit.edu	37	1	216052194	216052194	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216052194C>A	ENST00000366943.2	-	42	8856	c.8470G>T	c.(8470-8472)Gtt>Ttt	p.V2824F	USH2A_ENST00000307340.3_Missense_Mutation_p.V2824F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2824	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGGGCCAACATTCTGAGGT	0.468000										HNSCC(13;0.011)			17	79					1.99824e-07	2.3962e-07	0.004990	1	0
DNAH8	1769	broad.mit.edu	37	6	38919200	38919200	+	Missense_Mutation	SNP	G	G	A	rs140519170		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38919200G>A	ENST00000359357.3	+	80	11958	c.11704G>A	c.(11704-11706)Gaa>Aaa	p.E3902K	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E4119K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3866K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAACTTGGGAAGAAAGTGA	0.433000													147	182					0	0	0.003610	0	0
CR1	1378	broad.mit.edu	37	1	207782974	207782974	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207782974A>C	ENST00000367049.4	+	37	6236	c.6236A>C	c.(6235-6237)cAc>cCc	p.H2079P	CR1_ENST00000367051.1_Missense_Mutation_p.H1629P|CR1_ENST00000400960.2_Missense_Mutation_p.H1629P|CR1_ENST00000367053.1_Missense_Mutation_p.H1629P|CR1_ENST00000367052.1_Missense_Mutation_p.H1629P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1629					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTAGGGTCCCACACTGTGCAG	0.522000													4	26					0	0	0.000602	0	0
XPO7	23039	broad.mit.edu	37	8	21842176	21842176	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:21842176C>T	ENST00000434536.1	+	12	1426	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	XPO7_ENST00000433566.4_Silent_p.L434L|XPO7_ENST00000252512.9_Silent_p.L433L			Q9UIA9	XPO7_HUMAN	exportin 7	433				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGAAGATCCCCTGGAGGATAC	0.502000													9	20					0	0	0.004482	0	0
FBXO42	54455	broad.mit.edu	37	1	16632330	16632330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:16632330G>A	ENST00000375592.3	-	3	551	c.335C>T	c.(334-336)cCt>cTt	p.P112L	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	112										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)		TGGGGTTCCAGGATAAGGATA	0.473000													35	70					0	0	0.003755	0	0
CD163L1	283316	broad.mit.edu	37	12	7520753	7520753	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7520753A>G	ENST00000313599.3	-	17	4170	c.4113T>C	c.(4111-4113)ctT>ctC	p.L1371L	CD163L1_ENST00000396630.1_Silent_p.L1371L|CD163L1_ENST00000416109.2_Silent_p.L1381L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1371						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAACCAGGAGAAGGAGCCCAA	0.373000													16	40					0	0	0.006122	0	0
EFHD2	79180	broad.mit.edu	37	1	15736621	15736621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:15736621G>A	ENST00000375980.4	+	1	231	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	52						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGCGCGGACTGCGAGCT	0.776000													5	19					0	0	0.001168	0	0
MAP10	54627	broad.mit.edu	37	1	232942489	232942489	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:232942489A>C	ENST00000418460.1	+	1	1847	c.1720A>C	c.(1720-1722)Aag>Cag	p.K574Q		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GACTGAGGATAAGAAGTCACC	0.448000													11	55					0	0	0.000978	0	0
DENND5B	160518	broad.mit.edu	37	12	31566412	31566412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:31566412G>A	ENST00000389082.5	-	13	2903	c.2639C>T	c.(2638-2640)tCc>tTc	p.S880F	DENND5B_ENST00000306833.6_Missense_Mutation_p.S915F|DENND5B_ENST00000536562.1_Missense_Mutation_p.S915F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	880	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGATGCTGGGACAAGAGCTT	0.403000													24	65					0	0	0.002780	0	0
NR1I2	8856	broad.mit.edu	37	3	119536041	119536041	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:119536041C>T	ENST00000393716.2	+	9	3126	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	NR1I2_ENST00000466380.1_Silent_p.F392F|NR1I2_ENST00000337940.4_Silent_p.F468F	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	429	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGGAGTTGTTCGGCATCACAG	0.637000													38	28					0	0	0.006999	0	0
RBM14	10432	broad.mit.edu	37	11	66393997	66393997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:66393997C>T	ENST00000310137.4	+	3	2007	c.1868C>T	c.(1867-1869)tCg>tTg	p.S623L	RBM14_ENST00000393979.3_3'UTR|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	623					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TCGCAGCTTTCGTTCCGCCGC	0.547000													36	61					0	0	0.004878	0	0
PNPLA8	50640	broad.mit.edu	37	7	108143074	108143074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:108143074G>A	ENST00000426128.2	-	4	1344	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	PNPLA8_ENST00000436062.1_Missense_Mutation_p.P407S|PNPLA8_ENST00000453144.1_Missense_Mutation_p.P307S|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.P407S|PNPLA8_ENST00000422087.1_Missense_Mutation_p.P407S|PNPLA8_ENST00000388728.5_Missense_Mutation_p.P407S	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	407					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AATAAATATGGAATAATTCTT	0.343000													11	28					0	0	0.000978	0	0
TMCO6	55374	broad.mit.edu	37	5	140024645	140024645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:140024645C>T	ENST00000394671.3	+	12	1545	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.R488C|TMCO6_ENST00000537378.1_Missense_Mutation_p.R242C	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	482					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCAGGATCGTGTGTATGC	0.512000													7	53					0	0	0.003080	0	0
FLT3LG	2323	broad.mit.edu	37	19	49979049	49979049	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:49979049C>T	ENST00000594009.1	+	2	214	c.135C>T	c.(133-135)atC>atT	p.I45I	FLT3LG_ENST00000597551.1_Silent_p.I45I|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000600429.1_Silent_p.I45I|FLT3LG_ENST00000344019.3_Silent_p.I45I|FLT3LG_ENST00000596435.1_Silent_p.I45I|FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	45					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTGTCAAAATCCGTGAGCTGG	0.587000													26	27					0	0	0.003954	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086702	46086702	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46086702G>A	ENST00000360770.3	-	1	142	c.102C>T	c.(100-102)tgC>tgT	p.C34C	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	34	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CAGGCACACAGCAGGATGCCT	0.667000													11	22					0	0	0.000978	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616567	1616567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:1616567C>T	ENST00000421627.2	+	6	1777	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	627					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTCTGATCTCGGTGACGGCG	0.602000													6	10					0	0	0.001984	0	0
MYH1	4619	broad.mit.edu	37	17	10399694	10399694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10399694C>T	ENST00000226207.5	-	34	4923	c.4829G>A	c.(4828-4830)aGg>aAg	p.R1610K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1610						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTCCTGCTCCTGATCTCAGC	0.473000													63	52					0	0	0.003610	0	0
AKNA	80709	broad.mit.edu	37	9	117109058	117109058	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:117109058G>A	ENST00000307564.4	-	17	3566	c.3405C>T	c.(3403-3405)tcC>tcT	p.S1135S	AKNA_ENST00000374079.4_Silent_p.S80S|AKNA_ENST00000374088.3_Silent_p.S1135S|AKNA_ENST00000374075.5_Silent_p.S1054S|AKNA_ENST00000223791.3_Silent_p.S595S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ATCTCTCTGTGGATTTACTAG	0.493000													17	12					0	0	0.006122	0	0
KCNH5	27133	broad.mit.edu	37	14	63174486	63174486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:63174486C>T	ENST00000322893.7	-	11	2975	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	903					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAGGCCTGCTCGGGGATGGGA	0.547000													52	91					0	0	0.003610	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401326	23401326	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:23401326A>C	ENST00000258729.3	-	4	676	c.320T>G	c.(319-321)gTg>gGg	p.V107G	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	107	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ACAGCTCTCCACCACTCCATA	0.373000													56	49					0	0	0.003610	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19637050	19637050	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:19637050A>G	ENST00000555938.1	+	2	166	c.154A>G	c.(154-156)Aag>Gag	p.K52E	NDUFA13_ENST00000428459.2_Missense_Mutation_p.K52E|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.K52E|NDUFA13_ENST00000503283.1_Missense_Mutation_p.K52E|NDUFA13_ENST00000252576.5_Missense_Mutation_p.K135E																							GAGCATAATGAAGTGGAACCG	0.627000													9	30					0	0	0.004482	0	0
HSP90B1	7184	broad.mit.edu	37	12	104332163	104332163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:104332163G>A	ENST00000299767.5	+	7	1083	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	301					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	agcagccaaagaagagaaaga	0.363000													4	13					0	0	0.000248	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:47535945C>T	ENST00000602212.1	+	5	697	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.F159F			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	46					0	0	0.006320	0	0
SLC38A8	146167	broad.mit.edu	37	16	84066964	84066964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84066964G>A	ENST00000299709.3	-	3	498	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	167					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTCCCGCGGGGCAGACAGG	0.657000													54	133					0	0	0.003610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212466	50212466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:50212466C>T	ENST00000284509.6	-	18	2041	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E634K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	634					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E634K(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCAATTTCTTCATATAGCCCA	0.393000													33	80					0	0	0.005524	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235621987	235621987	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:235621987A>C	ENST00000366600.3	-	8	1177	c.949T>G	c.(949-951)Tat>Gat	p.Y317D		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	317					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ATATCATCATAGATGCTGCTT	0.378000													43	51					0	0	0.002522	0	0
CCDC81	60494	broad.mit.edu	37	11	86086284	86086284	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:86086284G>A	ENST00000445632.2	+	1	351	c.79_splice	c.e1+1	p.E27_splice	CCDC81_ENST00000354755.1_Splice_Site_p.E27_splice|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	27										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GAGCCAGGAGGGTAAGCGTGT	0.637000													53	115					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238253051	238253051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:238253051C>T	ENST00000295550.4	-	36	8062	c.7610G>A	c.(7609-7611)gGg>gAg	p.G2537E	COL6A3_ENST00000409809.1_Missense_Mutation_p.G2331E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2331E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2336E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2337E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1930E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2537	Nonhelical region.|VWFA 11.				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)		GGGGGTGATCCCCGCATCTGA	0.537000													131	43					0	0	0.003610	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84882995	84882995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84882995C>T	ENST00000262424.5	+	4	588	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R122C|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R122C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	122						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTGCAGGTATCGCTCTCCGGG	0.642000													26	41					0	0	0.007291	0	0
SEPT12	124404	broad.mit.edu	37	16	4833547	4833547	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:4833547G>A	ENST00000268231.8	-	7	905	c.642C>T	c.(640-642)aaC>aaT	p.N214N	SEPT12_ENST00000396693.5_Silent_p.N168N	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	214					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GGGTCCTCAGGTTCTGCTGGA	0.607000													36	70					0	0	0.002222	0	0
SEC31B	25956	broad.mit.edu	37	10	102250508	102250508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:102250508G>A	ENST00000370345.3	-	20	2702	c.2605C>T	c.(2605-2607)Ccc>Tcc	p.P869S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	869	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGGCCTGGGGCCCAGGTGCC	0.572000													15	14					0	0	0.003163	0	0
TAF3	83860	broad.mit.edu	37	10	8007463	8007463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:8007463C>T	ENST00000344293.5	+	3	2196	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	664	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GTTGGCCCTGCCCTTGTTCAG	0.507000													26	32					0	0	0.008361	0	0
BTN1A1	696	broad.mit.edu	37	6	26509046	26509046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:26509046C>T	ENST00000244513.6	+	7	1291	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	409	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CCTCACTCCTCTCCGGACCCC	0.517000													16	91					0	0	0.004990	0	0
GPR12	2835	broad.mit.edu	37	13	27333041	27333041	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:27333041G>A	ENST00000405846.3	-	2	1145	c.924C>T	c.(922-924)atC>atT	p.I308I	GPR12_ENST00000381436.2_Silent_p.I308I	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	308						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GCGCTTTCTGGATCTCTTGGT	0.557000													37	21					0	0	0.005524	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954075	32954075	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:32954075A>C	ENST00000321639.5	+	3	1055	c.728_splice	c.e3+1	p.R243_splice		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	243						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTTCACACTCAGGTAGTAGGG	0.617000													23	45					0	0	0.005443	0	0
SCN11A	11280	broad.mit.edu	37	3	38941523	38941523	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38941523G>A	ENST00000450244.1	-	13	2082	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	SCN11A_ENST00000444237.2_Silent_p.I628I|SCN11A_ENST00000302328.3_Silent_p.I628I|SCN11A_ENST00000456224.3_Silent_p.I628I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	628					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGAGCGCAATGATTTTTAGGC	0.408000													8	13					0	0	0.004482	0	0
TRAP1	10131	broad.mit.edu	37	16	3727657	3727657	+	Silent	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:3727657G>T	ENST00000246957.5	-	6	634	c.546C>A	c.(544-546)gcC>gcA	p.A182A	TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000538171.1_Silent_p.A129A	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	182					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CATCCAGGAAGGCCTGTGGGG	0.592000													18	35					6.49762e-13	7.82463e-13	0.006122	1	0
UBBP4	23666	broad.mit.edu	37	17	21731478	21731478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:21731478G>A	ENST00000578713.1	+	2	557	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GATCCAGGATGAAGAAGGCAT	0.517000													18	32					0	0	0.007413	0	0
TCTE1	202500	broad.mit.edu	37	6	44255358	44255358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:44255358G>A	ENST00000371505.4	-	2	327	c.205C>T	c.(205-207)Cct>Tct	p.P69S	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	69										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACCACTCAGGATCCTCAGCA	0.552000													20	84					0	0	0.001523	0	0
ZNF831	128611	broad.mit.edu	37	20	57829627	57829627	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:57829627C>T	ENST00000371030.2	+	5	4863	c.4863C>T	c.(4861-4863)atC>atT	p.I1621I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1621						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGGATTAATCACTCGGAAAG	0.488000													27	83					0	0	0.006320	0	0
LRFN1	57622	broad.mit.edu	37	19	39798745	39798745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:39798745G>A	ENST00000248668.4	-	2	1843	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	615						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCGGGGGCAGCCTGGGACTC	0.746000													4	18					0	0	0.001168	0	0
OR2M2	391194	broad.mit.edu	37	1	248344172	248344172	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248344172G>A	ENST00000359682.2	+	1	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TCCGCAACAAGGAGGTGACTA	0.453000													121	171					0	0	0.003610	0	0
ASTN2	23245	broad.mit.edu	37	9	119202937	119202937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:119202937C>T	ENST00000313400.4	-	22	3833	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	ASTN2_ENST00000341734.4_Missense_Mutation_p.E297K|ASTN2_ENST00000373996.3_Missense_Mutation_p.E1241K|ASTN2_ENST00000288520.5_Missense_Mutation_p.E346K|ASTN2_ENST00000361477.3_Missense_Mutation_p.E297K|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1194K			O75129	ASTN2_HUMAN	astrotactin 2	1245						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCAAACTTTTCATAGTGAGAG	0.512000													22	31					0	0	0.002780	0	0
CKMT2	1160	broad.mit.edu	37	5	80550260	80550260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:80550260G>A	ENST00000424301.2	+	5	635	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.G133S|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.G133S|CTC-281B15.1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	133					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAGACACAACGGCTATGACCC	0.517000													21	26					0	0	0.001882	0	0
FGF9	2254	broad.mit.edu	37	13	22275367	22275367	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:22275367C>T	ENST00000382353.5	+	3	950	c.420C>T	c.(418-420)ttC>ttT	p.F140F	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	140					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GAGAACAGTTCGAAGAAAACT	0.393000													14	4					0	0	0.004007	0	0
MYOCD	93649	broad.mit.edu	37	17	12626277	12626277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:12626277G>A	ENST00000425538.1	+	5	567	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MYOCD_ENST00000343344.4_Missense_Mutation_p.E123K|MYOCD_ENST00000395988.1_Missense_Mutation_p.E27K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	123					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAGCTGGTGGAAAAAAACAT	0.473000													61	57					0	0	0.003610	0	0
GABRA3	2556	broad.mit.edu	37	X	151358362	151358362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:151358362G>A	ENST00000370314.4	-	9	1221	c.983C>T	c.(982-984)tCc>tTc	p.S328F	GABRA3_ENST00000535043.1_Missense_Mutation_p.S328F|GABRA3_ENST00000370311.1_Missense_Mutation_p.S328F|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.S328F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTAGGTAAGGAATTTCTGGC	0.458000													24	13					0	0	0.006320	0	0
GPX6	257202	broad.mit.edu	37	6	28473551	28473551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:28473551G>A	ENST00000361902.1	-	4	437	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	130					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGGAAACTGGGGACAAAGCCA	0.443000													24	118					0	0	0.002780	0	0
OR51B2	79345	broad.mit.edu	37	11	5344769	5344769	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5344769C>T	ENST00000328813.2	-	1	813	c.759G>A	c.(757-759)gtG>gtA	p.V253V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAACCCATCACTGTAACAT	0.398000													13	30					0	0	0.002450	0	0
TESPA1	9840	broad.mit.edu	37	12	55360174	55360174	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:55360174G>A	ENST00000449076.1	-	6	477	c.345C>T	c.(343-345)tcC>tcT	p.S115S	TESPA1_ENST00000316577.8_Silent_p.S115S|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	115																	ACACTTACCTGGAGAAGAGTT	0.428000													32	60					0	0	0.004878	0	0
COL23A1	91522	broad.mit.edu	37	5	177690292	177690292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:177690292G>A	ENST00000390654.3	-	9	913	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	COL23A1_ENST00000407622.1_Missense_Mutation_p.P150S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	186	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGGGGCCCCGGAGGCCCAGCA	0.672000													24	26					0	0	0.002780	0	0
ZNF91	7644	broad.mit.edu	37	19	23542382	23542382	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:23542382G>A	ENST00000300619.7	-	4	3604	c.3399C>T	c.(3397-3399)ccC>ccT	p.P1133P	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.P1101P	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CACATTTGTAGGGTTTCTCTC	0.393000													15	36					0	0	0.003163	0	0
ZC3H14	79882	broad.mit.edu	37	14	89042269	89042269	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:89042269A>G	ENST00000251038.5	+	8	1333	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ZC3H14_ENST00000393514.5_Missense_Mutation_p.T370A|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000359301.3_Missense_Mutation_p.T336A|ZC3H14_ENST00000336693.4_Missense_Mutation_p.T336A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.T370A|ZC3H14_ENST00000557607.1_Missense_Mutation_p.T215A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.T370A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.T370A	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	370						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AACAAAAACAACTAACTACTC	0.318000													17	23					0	0	0.006122	0	0
CHRM3	1131	broad.mit.edu	37	1	240071954	240071954	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240071954G>A	ENST00000255380.4	+	5	1982	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	401					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGTGGACTTGGAGAGGAAAG	0.572000													13	23					0	0	0.001855	0	0
IFNB1	3456	broad.mit.edu	37	9	21077397	21077397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:21077397C>T	ENST00000380232.2	-	1	546	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	158					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TGACTGTACTCCTTGGCCTTC	0.433000													48	113					0	0	0.003610	0	0
SPAG17	200162	broad.mit.edu	37	1	118623749	118623749	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:118623749C>T	ENST00000336338.5	-	15	2249	c.2184G>A	c.(2182-2184)aaG>aaA	p.K728K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	728						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGGGCTGAGCCTTCATGATGC	0.403000													70	90					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161137681	161137681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:161137681C>T	ENST00000308192.9	+	7	736	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	225	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATTCAGATTTCCAAACAAGAA	0.443000													11	22					0	0	0.001368	0	0
PEAR1	375033	broad.mit.edu	37	1	156874588	156874588	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156874588C>T	ENST00000338302.3	+	4	375	c.150C>T	c.(148-150)ctC>ctT	p.L50L	PEAR1_ENST00000292357.7_Silent_p.L50L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	50	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGCCTGCTCCCCTCAGAGC	0.672000													21	91					0	0	0.002299	0	0
NLRP8	126205	broad.mit.edu	37	19	56466604	56466604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56466604C>T	ENST00000291971.3	+	3	1251	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R394W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	394	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCCATGTGCCGGGTCCCTGT	0.468000													27	67					0	0	0.008361	0	0
THSD1	55901	broad.mit.edu	37	13	52952660	52952660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:52952660C>T	ENST00000349258.4	-	4	1830	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	THSD1_ENST00000544466.1_Missense_Mutation_p.G103E|THSD1_ENST00000258613.4_Missense_Mutation_p.G482E	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	482						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGGCCCGTCTCCCCCATCCGA	0.657000													18	28					0	0	0.008871	0	0
INSR	3643	broad.mit.edu	37	19	7184365	7184365	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:7184365G>A	ENST00000341500.5	-	3	975	c.936C>T	c.(934-936)atC>atT	p.I312I	INSR_ENST00000302850.5_Silent_p.I312I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	312	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACACTCAGGGATGCACTTGT	0.567000													78	173					0	0	0.003610	0	0
PDE2A	5138	broad.mit.edu	37	11	72295960	72295960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:72295960C>T	ENST00000334456.5	-	17	1560	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	PDE2A_ENST00000544570.1_Missense_Mutation_p.E432K|PDE2A_ENST00000418754.2_Missense_Mutation_p.E324K|PDE2A_ENST00000376450.3_Missense_Mutation_p.E183K|PDE2A_ENST00000540345.1_Missense_Mutation_p.E430K|PDE2A_ENST00000444035.2_Missense_Mutation_p.E430K|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	439	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCCACCAGCTCATTCTGATCC	0.637000													103	198					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54313050	54313050	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54313050C>T	ENST00000324134.6	-	3	2031	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	NLRP12_ENST00000391775.3_Silent_p.Q621Q|NLRP12_ENST00000351894.4_Silent_p.Q621Q|NLRP12_ENST00000354278.3_Silent_p.Q621Q|NLRP12_ENST00000345770.5_Silent_p.Q621Q|NLRP12_ENST00000391773.1_Silent_p.Q621Q|NLRP12_ENST00000391772.1_Silent_p.Q621Q|NLRP12_ENST00000535162.1_Silent_p.Q621Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	621					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACTCCTCCTCCTGGATCTCGT	0.557000													20	29					0	0	0.001882	0	0
MGAM	8972	broad.mit.edu	37	7	141765190	141765190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:141765190C>T	ENST00000475668.2	+	38	4594	c.4540C>T	c.(4540-4542)Ccc>Tcc	p.P1514S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1514S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1514	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCACATTTCCCTCTTCTGG	0.612000													7	7					0	0	0.001984	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236759	207236759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207236759C>T	ENST00000367080.3	+	6	567	c.443C>T	c.(442-444)tCc>tTc	p.S148F	PFKFB2_ENST00000545806.1_Missense_Mutation_p.S115F|PFKFB2_ENST00000411990.2_Missense_Mutation_p.S50F|PFKFB2_ENST00000367079.2_Missense_Mutation_p.S148F	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	148	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAACAGAATTCCTTCAAGGTA	0.483000													12	29					0	0	0.001855	0	0
HEXDC	284004	broad.mit.edu	37	17	80399035	80399035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:80399035C>T	ENST00000337014.6	+	10	1619	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	HEXDC_ENST00000327949.9_Intron|HEXDC_ENST00000577944.1_Missense_Mutation_p.P355S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCAGGGCTCTCCGCAGGGAGG	0.647000													54	124					0	0	0.003610	0	0
C12orf71	728858	broad.mit.edu	37	12	27235198	27235198	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:27235198T>G	ENST00000429849.2	-	1	249	c.219A>C	c.(217-219)caA>caC	p.Q73H		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	73										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAATTTGGTCTTGTCTCTTCA	0.517000													16	24					0	0	0.004007	0	0
CD5L	922	broad.mit.edu	37	1	157804522	157804522	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:157804522G>A	ENST00000368174.4	-	4	489	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	131					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGACTGGGGAGAAAGAGCTCT	0.567000													41	89					0	0	0.006230	0	0
CRP	1401	broad.mit.edu	37	1	159683466	159683466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159683466C>T	ENST00000255030.5	-	2	627	c.524G>A	c.(523-525)gGa>gAa	p.G175E	CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	175	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GTTCACATTTCCAATGTCTCC	0.532000													78	274					0	0	0.003610	0	0
KCNA1	3736	broad.mit.edu	37	12	5021334	5021334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:5021334C>T	ENST00000382545.3	+	2	1897	c.790C>T	c.(790-792)Cct>Tct	p.P264S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	264					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCATCATTCCTTATTTCAT	0.547000													38	46					0	0	0.008740	0	0
C1orf43	25912	broad.mit.edu	37	1	154180059	154180059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:154180059G>A	ENST00000368521.5	-	7	830	c.632C>T	c.(631-633)tCc>tTc	p.S211F	C1orf43_ENST00000362076.4_Missense_Mutation_p.S159F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S193F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S177F|C1orf43_ENST00000483282.1_5'UTR	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	211						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GACCTCAGGGGACTGAGTTAG	0.502000													34	207					0	0	0.004289	0	0
SP140L	93349	broad.mit.edu	37	2	231256831	231256831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:231256831G>A	ENST00000243810.6	+	12	994	c.994G>A	c.(994-996)Gat>Aat	p.D332N	SP140L_ENST00000396563.4_Missense_Mutation_p.D297N|SP140L_ENST00000444636.1_Missense_Mutation_p.D332N|SP140L_ENST00000415673.2_Missense_Mutation_p.D332N			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	332	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACAGACTGAGGATGGAAAATG	0.527000													69	24					0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581172	24581172	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:24581172T>G	ENST00000535378.1	-	8	1876	c.1234A>C	c.(1234-1236)Aat>Cat	p.N412H	KIAA0319_ENST00000537886.1_Missense_Mutation_p.N421H|KIAA0319_ENST00000430948.2_Missense_Mutation_p.N376H|KIAA0319_ENST00000543707.1_Missense_Mutation_p.N421H|KIAA0319_ENST00000378214.3_Missense_Mutation_p.N421H	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	421	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACAGTGACATTGACAAATCCT	0.393000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	200					0	0	0.003610	0	0
ZNF677	342926	broad.mit.edu	37	19	53741297	53741297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:53741297G>A	ENST00000333952.4	-	5	848	c.683C>T	c.(682-684)cCa>cTa	p.P228L	ZNF677_ENST00000598513.1_Missense_Mutation_p.P228L			Q86XU0	ZN677_HUMAN	zinc finger protein 677	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGGAGGAAGTGGTGAAACTGA	0.353000													21	23					0	0	0.008871	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141470	63141470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63141470C>T	ENST00000279178.3	+	4	1015	c.766C>T	c.(766-768)Cga>Tga	p.R256*	SLC22A9_ENST00000310969.4_Missense_Mutation_p.S204L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	256					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTTTGCCATTCGAGACTGGCA	0.463000													22	30					0	0	0.002299	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174737	150174737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150174737G>A	ENST00000307271.3	+	5	2441	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	623						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)		AAAGGTCAATGATCTGAGAAA	0.438000													43	77					0	0	0.002222	0	0
WRNIP1	56897	broad.mit.edu	37	6	2770558	2770558	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:2770558A>G	ENST00000380769.4	+	3	790	c.559A>G	c.(559-561)Act>Gct	p.T187A	WRNIP1_ENST00000380764.1_Missense_Mutation_p.T23A|WRNIP1_ENST00000380771.4_Missense_Mutation_p.T382A|WRNIP1_ENST00000380773.4_Missense_Mutation_p.T407A			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	407					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TAGCCGTCCCACTGACCCTCT	0.552000													33	55					0	0	0.002836	0	0
DTNBP1	84062	broad.mit.edu	37	6	15533578	15533578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:15533578G>A	ENST00000338950.5	-	8	665	c.560C>T	c.(559-561)aCc>aTc	p.T187I	DTNBP1_ENST00000344537.5_Missense_Mutation_p.T187I|DTNBP1_ENST00000355917.3_Missense_Mutation_p.T188I|DTNBP1_ENST00000462989.2_Missense_Mutation_p.T31I	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	187	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CATTTGCTGGGTGTGCTCCAT	0.517000									Hermansky-Pudlak syndrome				71	275					0	0	0.003610	0	0
URB2	9816	broad.mit.edu	37	1	229794933	229794933	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:229794933C>T	ENST00000258243.2	+	10	4600	c.4464C>T	c.(4462-4464)ttC>ttT	p.F1488F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1488						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGTCCAGTTCCTGCGGGCCT	0.502000													128	174					0	0	0.003610	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334627	69334627	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:69334627A>T	ENST00000305363.4	+	4	353	c.289A>T	c.(289-291)Agg>Tgg	p.R97W		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	97	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ATCTCCATTAAGGGAAGAATT	0.303000													49	124					0	0	0.003610	0	0
CCDC102A	92922	broad.mit.edu	37	16	57546746	57546746	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:57546746C>T	ENST00000258214.2	-	9	1806	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	520										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TGCGGATCTTCCCGAAGAGGG	0.637000													29	50					0	0	0.008361	0	0
FCGR2B	2213	broad.mit.edu	37	1	161642805	161642805	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:161642805G>A	ENST00000367962.4	+	4	559	c.432G>A	c.(430-432)gaG>gaA	p.E144E	FCGR2B_ENST00000403078.3_Silent_p.E144E|FCGR2B_ENST00000367960.5_Silent_p.E137E|FCGR2B_ENST00000236937.9_Silent_p.E144E|FCGR2B_ENST00000358671.5_Silent_p.E144E|FCGR2B_ENST00000428605.2_Silent_p.E144E|FCGR2B_ENST00000367961.4_Silent_p.E137E|RP11-25K21.1_ENST00000453111.1_RNA			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	144	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGTTCCAGGAGGGAGAAACCA	0.547000			T	?	ALL								8	19					0	0	0.001855	0	0
FBN1	2200	broad.mit.edu	37	15	48719795	48719795	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:48719795G>A	ENST00000316623.5	-	58	7628	c.7173C>T	c.(7171-7173)ccC>ccT	p.P2391P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2391					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTCGGCCATGGGGACAGAGTT	0.473000													29	51					0	0	0.003271	0	0
SGCZ	137868	broad.mit.edu	37	8	13965682	13965682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:13965682G>A	ENST00000382080.1	-	6	1325	c.610C>T	c.(610-612)Caa>Taa	p.Q204*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.Q157*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	191					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.Q204K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGAGATCTTGGGATGGCTCT	0.438000													25	46					0	0	0.007291	0	0
FLG	2312	broad.mit.edu	37	1	152283696	152283696	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152283696C>T	ENST00000368799.1	-	3	3701	c.3666G>A	c.(3664-3666)aaG>aaA	p.K1222K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1222	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTGTCCTTACGAGTTT	0.567000									Ichthyosis				204	293					0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152329887	152329887	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152329887A>G	ENST00000388718.5	-	3	447	c.375T>C	c.(373-375)caT>caC	p.H125H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	125							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACCTGATTTATGTCCTGGTG	0.458000													53	240					0	0	0.003610	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468560	44468560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:44468560G>A	ENST00000372310.3	-	6	853	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	SLC6A9_ENST00000372307.3_Missense_Mutation_p.L165F|SLC6A9_ENST00000372306.3_Missense_Mutation_p.L230F|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L249F|SLC6A9_ENST00000537678.1_Missense_Mutation_p.L165F|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L303F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L119F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	303						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ATGAGGCAGAGGAAGACGACC	0.602000													50	110					0	0	0.003610	0	0
ABCC12	94160	broad.mit.edu	37	16	48173146	48173146	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:48173146C>T	ENST00000311303.3	-	5	1104	c.759G>A	c.(757-759)gcG>gcA	p.A253A	ABCC12_ENST00000448542.1_Silent_p.A253A|ABCC12_ENST00000416054.1_Silent_p.A253A	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	253	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAAAGGCGTACGCCGCACAAA	0.473000													33	48					0	0	0.002096	0	0
CETN1	1068	broad.mit.edu	37	18	580612	580612	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:580612G>A	ENST00000327228.3	+	1	246	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	68	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGAAGGAAGAGATGAAGAAAA	0.552000													13	22					0	0	0.001368	0	0
MACC1	346389	broad.mit.edu	37	7	20197851	20197851	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:20197851C>T	ENST00000400331.5	-	5	2441	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	MACC1_ENST00000332878.4_Silent_p.R711R|MACC1_ENST00000589011.1_Silent_p.R711R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	711					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACAGAAACTTCCTTGTATTTC	0.318000													71	54					0	0	0.003610	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:111887770C>T	ENST00000305815.5	-	25	3443	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323000													34	32					0	0	0.008740	0	0
DOCK8	81704	broad.mit.edu	37	9	446428	446428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:446428G>A	ENST00000432829.2	+	44	5751	c.5435G>A	c.(5434-5436)aGg>aAg	p.R1812K	DOCK8_ENST00000469391.1_Missense_Mutation_p.R1780K|DOCK8_ENST00000382329.1_Missense_Mutation_p.R1347K|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1880K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1880	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGAAAGACAGGGTCACATAC	0.517000													48	102					0	0	0.003610	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:55128600C>T	ENST00000370862.3	+	4	1078	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000													10	20					0	0	0.000978	0	0
SNTG2	54221	broad.mit.edu	37	2	1133456	1133456	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:1133456T>C	ENST00000308624.5	+	6	501	c.372T>C	c.(370-372)gtT>gtC	p.V124V	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	124	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTGTTCAGGTTAATGGCATAC	0.269000													46	31					0	0	0.003610	0	0
TDRD5	163589	broad.mit.edu	37	1	179562664	179562664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:179562664G>A	ENST00000444136.1	+	3	552	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	TDRD5_ENST00000294848.8_Missense_Mutation_p.R101Q|TDRD5_ENST00000367614.1_Missense_Mutation_p.R101Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	101					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATAAGCTTCGAAACTCAATG	0.433000													8	57					0	0	0.004482	0	0
AMPD3	272	broad.mit.edu	37	11	10506423	10506423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:10506423C>T	ENST00000444303.2	+	4	641	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	AMPD3_ENST00000396554.3_Missense_Mutation_p.P225S	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	216					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGATGCACCCCCCAACCTGGA	0.567000													40	60					0	0	0.003214	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533196	47533196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47533196C>T	ENST00000334194.3	+	1	37	c.34C>T	c.(34-36)Cac>Tac	p.H12Y		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	12						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACTCATGGCTCACCCCTTCTT	0.547000													8	19					0	0	0.003080	0	0
ZIM3	114026	broad.mit.edu	37	19	57646872	57646872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:57646872G>A	ENST00000269834.1	-	5	1218	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		ACACTGATAGGATTTCTTGGC	0.373000													50	74					0	0	0.003610	0	0
CLTC	1213	broad.mit.edu	37	17	57754377	57754377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:57754377C>T	ENST00000269122.3	+	17	2898	c.2624C>T	c.(2623-2625)aCt>aTt	p.T875I	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000393043.1_Missense_Mutation_p.T875I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	875	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGCCTGCTACTCACAATGCC	0.433000			T	"""ALK, TFE3"""	"""ALCL, renal """								16	41					0	0	0.004990	0	0
ACAP3	116983	broad.mit.edu	37	1	1237424	1237424	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:1237424G>A	ENST00000354700.5	-	5	484	c.282C>T	c.(280-282)atC>atT	p.I94I	ACAP3_ENST00000353662.3_Silent_p.I52I	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	94				I -> N (in Ref. 5; AAH51194).	filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGTCAAACAGGATCTGGGGGC	0.652000													29	64					0	0	0.004878	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871470	20871470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:20871470G>A	ENST00000324344.3	-	3	938	c.653C>T	c.(652-654)cCt>cTt	p.P218L	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P218L|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	218	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CAATACCGGAGGATTGTTCTG	0.498000													59	112					0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	124174098	124174098	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:124174098G>A	ENST00000360013.3	+	22	3748	c.3621G>A	c.(3619-3621)acG>acA	p.T1207T	KALRN_ENST00000460856.1_Silent_p.T1198T|KALRN_ENST00000240874.3_Silent_p.T1207T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1207					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.T1207T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCATGCCACGGAGATAAGGA	0.488000													31	34					0	0	0.008361	0	0
ZNF311	282890	broad.mit.edu	37	6	28963462	28963462	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:28963462C>T	ENST00000377179.3	-	7	1829	c.1317G>A	c.(1315-1317)cgG>cgA	p.R439R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AGTGTTTCTCCCGAGTATGGA	0.488000													32	85					0	0	0.004289	0	0
SPTLC3	55304	broad.mit.edu	37	20	13134660	13134660	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:13134660A>G	ENST00000399002.2	+	10	1564	c.1290A>G	c.(1288-1290)agA>agG	p.R430R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	430					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGCTGCAGAGAGTACAGCAAC	0.433000													26	63					0	0	0.001786	0	0
PEX6	5190	broad.mit.edu	37	6	42942632	42942632	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:42942632G>C	ENST00000304611.8	-	2	1096	c.1027C>G	c.(1027-1029)Cgg>Ggg	p.R343G	PEX6_ENST00000244546.4_Missense_Mutation_p.R343G	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	343					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TGAAAGTGCCGGTAAAGAACA	0.463000													37	120					0	0	0.002222	0	0
EVPL	2125	broad.mit.edu	37	17	74005097	74005097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:74005097C>T	ENST00000301607.3	-	22	4442	c.4189G>A	c.(4189-4191)Gag>Aag	p.E1397K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1419K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1397	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCACCTCCTCATCCAGGCTC	0.697000													31	69					0	0	0.002836	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738691	102738691	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:102738691G>A	ENST00000210633.3	+	7	807	c.729G>A	c.(727-729)acG>acA	p.T243T	SEMA4G_ENST00000370250.4_Silent_p.T243T|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.T243T|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	243	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACTTCTTCACGGAGCGTGCCA	0.607000													17	12					0	0	0.008871	0	0
OR4K1	79544	broad.mit.edu	37	14	20404572	20404572	+	Silent	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20404572T>A	ENST00000285600.4	+	1	806	c.747T>A	c.(745-747)ctT>ctA	p.L249L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGGTCATTCTTTTCTTCGGGC	0.428000													25	92					0	0	0.003954	0	0
TREML4	285852	broad.mit.edu	37	6	41196694	41196694	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41196694T>G	ENST00000341495.2	+	2	410	c.306T>G	c.(304-306)aaT>aaG	p.N102K	TREML4_ENST00000448827.2_Missense_Mutation_p.N102K	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	102	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGACACAGAATGACTCGGGAT	0.473000													33	77					0	0	0.002445	0	0
HTRA1	5654	broad.mit.edu	37	10	124248988	124248988	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124248988T>C	ENST00000368984.3	+	3	751	c.623T>C	c.(622-624)aTt>aCt	p.I208T		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	208	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGGTTTATTGTGTCGGAA	0.488000													42	45					0	0	0.003214	0	0
VSIG2	23584	broad.mit.edu	37	11	124619748	124619748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:124619748G>A	ENST00000403470.1	-	4	497	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	VSIG2_ENST00000326621.5_Missense_Mutation_p.P148S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	148	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CTGCATAAGGGATTACTGGGG	0.478000													21	23					0	0	0.008871	0	0
GML	2765	broad.mit.edu	37	8	143922605	143922605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:143922605C>T	ENST00000220940.1	+	3	235	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	49	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TAGAGTATGTCCGTATCATAT	0.453000													8	62					0	0	0.004482	0	0
TENM3	55714	broad.mit.edu	37	4	183713577	183713577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:183713577C>T	ENST00000511685.1	+	26	5875	c.5752C>T	c.(5752-5754)Ccg>Tcg	p.P1918S	TENM3_ENST00000406950.2_Missense_Mutation_p.P1918S					teneurin transmembrane protein 3																		ATACAACCCCCCGGAAAGCAA	0.532000													17	46					0	0	0.001523	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16823227	16823227	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:16823227G>A	ENST00000355661.3	-	16	2305	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.S765S|PLEKHA7_ENST00000448080.2_Silent_p.S765S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	765					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGACTCTCTGGAGAGCTCAG	0.572000													10	25					0	0	0.008291	0	0
SOX30	11063	broad.mit.edu	37	5	157065624	157065624	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:157065624C>T	ENST00000265007.6	-	4	1835	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Silent_p.Q193Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	498					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACTTGGATCCTGGACAGCCA	0.577000													4	25					0	0	0.000602	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559291	129559291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:129559291C>T	ENST00000422113.2	-	9	2755	c.2429G>A	c.(2428-2430)aGa>aAa	p.R810K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R348K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	810						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCTGTGTGTCTGCTGTCACT	0.498000													47	76					0	0	0.003610	0	0
CYP2D7	1564	broad.mit.edu	37	22	42536661	42536661	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:42536661G>A	ENST00000435101.1	-	0	342				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CTTCCAGACGGCCTCATCCTT	0.607000													8	5					0	0	0.004482	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264903	47264903	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47264903C>T	ENST00000271153.4	+	1	186	c.150C>T	c.(148-150)ccC>ccT	p.P50P	CYP4B1_ENST00000371919.4_Silent_p.P50P|CYP4B1_ENST00000371923.4_Silent_p.P50P|CYP4B1_ENST00000546128.1_Intron			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	50					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CAGGGCCTCCCACCCACTGGC	0.547000													4	11					0	0	0.000248	0	0
PDP1	54704	broad.mit.edu	37	8	94935031	94935031	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:94935031C>T	ENST00000396200.3	+	3	1095	c.819C>T	c.(817-819)tcC>tcT	p.S273S	PDP1_ENST00000517764.1_Silent_p.S248S|PDP1_ENST00000297598.4_Silent_p.S248S|PDP1_ENST00000520728.1_Silent_p.S248S	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	248					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ATGACATCTCCTTGGAGGCGC	0.468000													32	81					0	0	0.003755	0	0
MUSK	4593	broad.mit.edu	37	9	113444971	113444971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:113444971C>T	ENST00000416899.2	+	2	223	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.P33S|MUSK_ENST00000374448.4_Missense_Mutation_p.P33S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	33	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CATCACCACTCCTCTTGAAAC	0.413000													47	60					0	0	0.003610	0	0
SCYL3	57147	broad.mit.edu	37	1	169833638	169833638	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:169833638T>A	ENST00000367772.4	-	9	1024	c.827A>T	c.(826-828)gAc>gTc	p.D276V	SCYL3_ENST00000367770.1_Missense_Mutation_p.D276V|SCYL3_ENST00000367771.5_Missense_Mutation_p.D276V|SCYL3_ENST00000470238.1_5'UTR	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	276					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTGACTCTGTCCAGCAGAAA	0.458000													36	52					0	0	0.003271	0	0
CYFIP1	23191	broad.mit.edu	37	15	22940812	22940812	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:22940812C>T	ENST00000313077.7	+	11	1202	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	CYFIP1_ENST00000560848.1_Silent_p.F359F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	359					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)		ACATGCGCTTCATTTCGGAGC	0.607000													12	24					0	0	0.002450	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069442	6069442	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:6069442G>A	ENST00000381095.3	-	2	693	c.66C>T	c.(64-66)aaC>aaT	p.N22N	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Silent_p.N22N|NLGN4X_ENST00000538097.1_Silent_p.N22N|NLGN4X_ENST00000381093.2_Silent_p.N22N|NLGN4X_ENST00000275857.6_Silent_p.N22N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	22					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGACATTGGAGTTTAACATGA	0.493000													18	21					0	0	0.007413	0	0
CCDC60	160777	broad.mit.edu	37	12	119957997	119957997	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:119957997G>A	ENST00000327554.2	+	9	1505	c.1040_splice	c.e9+1	p.S347_splice	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	347										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTCAAATCAAGGTAGGAAAGC	0.507000													43	92					0	0	0.008740	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956018	18956018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:18956018G>A	ENST00000302797.3	-	1	538	c.314C>T	c.(313-315)tCc>tTc	p.S105F	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	105					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAAAGTAGGAAAACATCAT	0.547000													45	257					0	0	0.003610	0	0
OR2J3	442186	broad.mit.edu	37	6	29080253	29080253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29080253C>T	ENST00000377169.1	+	1	586	c.586C>T	c.(586-588)Cat>Tat	p.H196Y		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTTGATACCCATGTCAATGA	0.463000													23	77					0	0	0.002299	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030311	95030311	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:95030311G>A	ENST00000557004.1	+	2	913	c.492G>A	c.(490-492)gaG>gaA	p.E164E	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.E164E|SERPINA4_ENST00000298841.5_Silent_p.E164E			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	164					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCGTCTATGAGGCTAAACTCT	0.517000													40	29					0	0	0.002222	0	0
POU6F2	11281	broad.mit.edu	37	7	39379268	39379268	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:39379268A>C	ENST00000518318.2	+	5	581	c.539A>C	c.(538-540)cAg>cCg	p.Q180P	POU6F2_ENST00000559001.1_Missense_Mutation_p.Q172P|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q180P			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	180	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCCAGCTCcagcagctccag	0.602000													9	36					0	0	0.008291	0	0
NGFR	4804	broad.mit.edu	37	17	47579543	47579543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:47579543C>T	ENST00000172229.3	+	2	310	c.185C>T	c.(184-186)aCc>aTc	p.T62I	NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	62					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCAACCAGACCGTGTGTGAG	0.652000													23	42					0	0	0.002780	0	0
TRIM37	4591	broad.mit.edu	37	17	57093067	57093067	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:57093067T>C	ENST00000376149.3	-	21	2923	c.2114A>G	c.(2113-2115)gAc>gGc	p.D705G	TRIM37_ENST00000393066.3_Missense_Mutation_p.D827G|TRIM37_ENST00000393065.2_Missense_Mutation_p.D793G|TRIM37_ENST00000262294.7_Missense_Mutation_p.D827G			O94972	TRI37_HUMAN	tripartite motif containing 37	827						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACACTGCCGGTCTTCAGTTTT	0.502000									Mulibrey Nanism				51	73					0	0	0.003610	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065199	63065199	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63065199G>A	ENST00000544661.1	+	5	793	c.365_splice	c.e5+1	p.R122_splice	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000332793.6_Splice_Site_p.R277_splice|SLC22A10_ENST00000535888.1_Splice_Site_p.R67_splice			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	277						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTTTCAAGGTAGGAGCTT	0.443000													32	39					0	0	0.002096	0	0
CRP	1401	broad.mit.edu	37	1	159683467	159683467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159683467C>T	ENST00000255030.5	-	2	626	c.523G>A	c.(523-525)Gga>Aga	p.G175R	CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	175	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TTCACATTTCCAATGTCTCCC	0.532000													78	279					0	0	0.003610	0	0
NEFM	4741	broad.mit.edu	37	8	24775820	24775820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24775820G>A	ENST00000221166.5	+	3	3234	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E442K|NEFM_ENST00000437366.2_Missense_Mutation_p.E779K|NEFM_ENST00000518131.1_Missense_Mutation_p.E600K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	818	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)		ggagaccaaggaaaaaggcag	0.512000													5	9					0	0	0.000602	0	0
TRAT1	50852	broad.mit.edu	37	3	108572544	108572544	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:108572544G>A	ENST00000295756.6	+	6	611	c.381G>A	c.(379-381)caG>caA	p.Q127Q	TRAT1_ENST00000426646.1_Silent_p.Q90Q	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	127					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCAGGAAACAGAATACTCATT	0.443000													14	18					0	0	0.001855	0	0
NRP1	8829	broad.mit.edu	37	10	33515180	33515180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:33515180C>T	ENST00000265371.4	-	8	1544	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E	NRP1_ENST00000374823.5_Missense_Mutation_p.G340E|NRP1_ENST00000374867.2_Missense_Mutation_p.G340E|NRP1_ENST00000374816.3_Missense_Mutation_p.G340E|NRP1_ENST00000374821.5_Missense_Mutation_p.G340E|NRP1_ENST00000374822.4_Missense_Mutation_p.G340E|NRP1_ENST00000395995.1_Missense_Mutation_p.G340E			O14786	NRP1_HUMAN	neuropilin 1	340	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCCCTGTGTCCCGACAGCCGT	0.488000													16	25					0	0	0.004007	0	0
LASP1	3927	broad.mit.edu	37	17	37046722	37046722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:37046722C>T	ENST00000318008.6	+	3	545	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	LASP1_ENST00000433206.2_Intron|LASP1_ENST00000435347.3_Missense_Mutation_p.L72F	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	72						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CCCGGAAAACCTTCGCCTCAA	0.622000			T	MLL	AML								19	68					0	0	0.001882	0	0
TLR8	51311	broad.mit.edu	37	X	12939092	12939092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:12939092G>A	ENST00000218032.6	+	2	2020	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	TLR8_ENST00000311912.5_Missense_Mutation_p.D663N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	645					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACACGTCTGGATTTATCCCT	0.368000													24	14					0	0	0.003954	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657540	72657540	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:72657540C>T	ENST00000425256.1	-	0	2371					NR_002164.1																						cattgcaggtcgataacctcc	0.502000													65	139					0	0	0.003610	0	0
MAMDC2	256691	broad.mit.edu	37	9	72758574	72758574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:72758574C>T	ENST00000377182.4	+	9	1860	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	415	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTGCGTTTTCATTATGCCAT	0.438000													22	38					0	0	0.002780	0	0
FOCAD	54914	broad.mit.edu	37	9	20990162	20990162	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:20990162T>C	ENST00000380249.1	+	44	5409	c.5045T>C	c.(5044-5046)gTt>gCt	p.V1682A	FOCAD_ENST00000338382.6_Missense_Mutation_p.V1682A|FOCAD_ENST00000605086.1_Missense_Mutation_p.V1118A	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1682						integral to membrane	binding										ACCGCAGTGGTTGCATGGGCT	0.493000													29	53					0	0	0.001786	0	0
TEX33	339669	broad.mit.edu	37	22	37395952	37395952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:37395952G>A	ENST00000405091.2	-	5	814	c.563C>T	c.(562-564)cCt>cTt	p.P188L	TEX33_ENST00000402860.3_Missense_Mutation_p.P103L|TEX33_ENST00000381821.1_Missense_Mutation_p.P188L			O43247	EAN57_HUMAN	testis expressed 33	188																	GATTTCCACAGGATTCTGGGT	0.542000													32	51					0	0	0.003271	0	0
CFHR5	81494	broad.mit.edu	37	1	196973903	196973903	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196973903C>T	ENST00000367414.5	+	9	1571	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	CFHR5_ENST00000256785.4_Silent_p.F481F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	481	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCCAGTCCTTCTATAAACTCC	0.443000													51	61					0	0	0.003610	0	0
OR8A1	390275	broad.mit.edu	37	11	124440898	124440898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:124440898G>A	ENST00000284287.3	+	1	1006	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAGGAACAAGGAAGTAAAGGC	0.433000													7	28					0	0	0.003080	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438185	204438185	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:204438185A>C	ENST00000367187.3	-	3	1302	c.746T>G	c.(745-747)tTg>tGg	p.L249W	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L249W	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	249	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATCCCGCAACATCTCCGC	0.577000													91	390					0	0	0.003610	0	0
REXO1L1	254958	broad.mit.edu	37	8	86574497	86574497	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:86574497G>A	ENST00000379010.2	-	1	1229	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	410	GOR1-125 epitope.					cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						AGACCCTACAGGAGGAGTCGC	0.672000													7	19					0	0	0.003080	0	0
RASSF3	283349	broad.mit.edu	37	12	65088588	65088588	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:65088588T>C	ENST00000542104.1	+	5	733	c.613T>C	c.(613-615)Ttg>Ctg	p.L205L	RASSF3_ENST00000336061.2_Silent_p.L205L	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	205	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		CTTGCGCATCTTGGACAAGGA	0.478000													23	46					0	0	0.003330	0	0
LRFN2	57497	broad.mit.edu	37	6	40400562	40400562	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:40400562C>T	ENST00000338305.6	-	2	833	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	97						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTCGAGGTCCAGAAAGGAAA	0.607000													23	52					0	0	0.003330	0	0
TMC5	79838	broad.mit.edu	37	16	19460909	19460909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19460909G>A	ENST00000396229.2	+	5	1753	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	TMC5_ENST00000541464.1_Missense_Mutation_p.G335E|TMC5_ENST00000542583.2_Missense_Mutation_p.G335E|TMC5_ENST00000381414.4_Missense_Mutation_p.G335E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	335						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATGCTTATGGAAACCCACCA	0.463000													50	102					0	0	0.003610	0	0
SEC14L2	23541	broad.mit.edu	37	22	30812060	30812060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:30812060C>T	ENST00000312932.9	+	10	1155	c.895C>T	c.(895-897)Cct>Tct	p.P299S	SEC14L2_ENST00000402592.3_Missense_Mutation_p.P216S|SEC14L2_ENST00000405717.3_Missense_Mutation_p.P299S|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.P133S|SEC14L2_ENST00000403484.1_Missense_Mutation_p.P225S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	299	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GATCCTCTTCCCTGGCTGTGT	0.557000													34	89					0	0	0.006999	0	0
PRB2	653247	broad.mit.edu	37	12	11546774	11546774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:11546774C>T	ENST00000389362.4	-	3	273	c.238G>A	c.(238-240)Gga>Aga	p.G80R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.612000													88	213					0	0	0.003610	0	0
OR51T1	401665	broad.mit.edu	37	11	4903722	4903722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4903722G>A	ENST00000380378.1	+	1	674	c.674G>A	c.(673-675)aGt>aAt	p.S225N	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S198N|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGATCAGCAGTTTTTGGGGA	0.438000													40	85					0	0	0.002222	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150028134	150028134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150028134C>T	ENST00000343855.4	+	1	1197	c.641C>T	c.(640-642)gCt>gTt	p.A214V	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GACCCCCTGGCTTACTGGGAG	0.577000													6	31					0	0	0.001168	0	0
CAPN12	147968	broad.mit.edu	37	19	39228929	39228929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:39228929C>T	ENST00000328867.4	-	8	1257	c.949G>A	c.(949-951)Gag>Aag	p.E317K	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.E168K	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	317	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCGCCATCCTCCTTTTTCACC	0.652000													12	22					0	0	0.002450	0	0
RYR1	6261	broad.mit.edu	37	19	38979973	38979973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38979973G>A	ENST00000355481.4	+	35	5835	c.5704G>A	c.(5704-5706)Gaa>Aaa	p.E1902K	RYR1_ENST00000359596.3_Missense_Mutation_p.E1902K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1902K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1902	6 X approximate repeats.|Glu-rich (acidic).				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)	aacagcacaggaaaaggaaga	0.522000													13	25					0	0	0.001855	0	0
APOB	338	broad.mit.edu	37	2	21224685	21224685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21224685C>T	ENST00000233242.1	-	29	13736	c.13609G>A	c.(13609-13611)Gag>Aag	p.E4537K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4537					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAGTAACTCCGTGATGTAT	0.358000													436	228					0	0	0.003610	0	0
SPINK5	11005	broad.mit.edu	37	5	147469129	147469129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:147469129C>T	ENST00000359874.3	+	7	620	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	SPINK5_ENST00000398454.1_Missense_Mutation_p.L183F|SPINK5_ENST00000256084.7_Missense_Mutation_p.L183F	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	183	Kazal-like 3.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCCTGTTCTTGGTCCTGA	0.463000													41	37					0	0	0.002222	0	0
ZNF292	23036	broad.mit.edu	37	6	87970318	87970318	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:87970318G>T	ENST00000369577.3	+	8	7014	c.6971G>T	c.(6970-6972)gGa>gTa	p.G2324V	ZNF292_ENST00000339907.4_Missense_Mutation_p.G2319V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCAGATGTGGAAAGGAAGGA	0.373000													14	27					3.27435e-08	3.92883e-08	0.002450	1	0
AIM2	9447	broad.mit.edu	37	1	159033386	159033386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159033386C>T	ENST00000368130.4	-	5	1183	c.895G>A	c.(895-897)Gag>Aag	p.E299K	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	299	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATTGTGTCCTCGTTTCTAACC	0.368000													49	244					0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	93965744	93965744	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:93965744C>T	ENST00000369303.4	-	13	2368	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	728	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGTAAATTGCCCATCATGTT	0.398000													10	47					0	0	0.001368	0	0
NELFA	7469	broad.mit.edu	37	4	2010585	2010585	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:2010585C>T	ENST00000382882.3	-	1	1252	c.135G>A	c.(133-135)acG>acA	p.T45T	NELFA_ENST00000411638.1_Silent_p.T34T|NELFA_ENST00000542778.1_5'UTR	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		TGACCGCGGCCGTGAGCAGGG	0.682000													7	18					0	0	0.001984	0	0
FYB	2533	broad.mit.edu	37	5	39202935	39202935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:39202935C>T	ENST00000351578.6	-	2	318	c.128G>A	c.(127-129)gGa>gAa	p.G43E	FYB_ENST00000540520.1_Missense_Mutation_p.G53E|FYB_ENST00000512982.1_Missense_Mutation_p.G43E|FYB_ENST00000505428.1_Missense_Mutation_p.G43E|FYB_ENST00000515010.1_Missense_Mutation_p.G43E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	43					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTGGCATTTCCTTGGTTGTT	0.498000													28	20					0	0	0.006320	0	0
BTAF1	9044	broad.mit.edu	37	10	93773459	93773459	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:93773459C>T	ENST00000265990.6	+	31	4655	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F	BTAF1_ENST00000544642.1_Silent_p.F277F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1449	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATTTGATTTCCTCATGCCAG	0.403000													22	26					0	0	0.002299	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955768	51955768	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51955768C>T	ENST00000321424.3	-	7	1431	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	SIGLEC8_ENST00000430817.1_Silent_p.V346V|SIGLEC8_ENST00000340550.5_Silent_p.V362V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	455					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTGAGGCTTCACTTTATGGA	0.562000													27	51					0	0	0.007291	0	0
KRT76	51350	broad.mit.edu	37	12	53165697	53165697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:53165697C>T	ENST00000332411.2	-	6	1274	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	407	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCTGGATCATCCTGTTGA	0.557000													33	74					0	0	0.003271	0	0
CWF19L2	143884	broad.mit.edu	37	11	107224410	107224410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:107224410G>A	ENST00000282251.5	-	13	1952	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	CWF19L2_ENST00000433523.1_Missense_Mutation_p.S642F	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	642							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGCTGCTTTGGAGACAAACAT	0.398000													34	31					0	0	0.004878	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454897	187454897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187454897C>T	ENST00000307161.5	-	2	1200	c.999G>A	c.(997-999)tgG>tgA	p.W333*	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	333					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GAGACGGTTTCCATTTAACCC	0.478000													51	87					0	0	0.003610	0	0
KCNH6	81033	broad.mit.edu	37	17	61613048	61613048	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:61613048C>T	ENST00000583023.1	+	6	1131	c.1120C>T	c.(1120-1122)Cta>Tta	p.L374L	KCNH6_ENST00000581784.1_Silent_p.L374L|KCNH6_ENST00000580652.1_Silent_p.L374L|KCNH6_ENST00000314672.5_Silent_p.L374L|KCNH6_ENST00000456941.2_Silent_p.L374L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	374					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTGATTGGGCTATTGAAGAC	0.597000													21	30					0	0	0.002780	0	0
RABEP2	79874	broad.mit.edu	37	16	28925996	28925996	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:28925996G>A	ENST00000358201.4	-	4	1128	c.540C>T	c.(538-540)atC>atT	p.I180I	RABEP2_ENST00000544477.1_Silent_p.I109I|RABEP2_ENST00000357573.6_Silent_p.I180I	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	180					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCCTCACCTGGATCTCCTGAA	0.662000													31	82					0	0	0.003755	0	0
ZNF136	7695	broad.mit.edu	37	19	12298480	12298480	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12298480C>T	ENST00000343979.4	+	4	1427	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZNF136_ENST00000398616.2_Silent_p.F363F	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	429					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GTAAAGCTTTCGTTTCTTCAA	0.383000													8	25					0	0	0.003080	0	0
TRIM21	6737	broad.mit.edu	37	11	4411334	4411334	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4411334G>A	ENST00000254436.7	-	2	418	c.306C>T	c.(304-306)ttC>ttT	p.F102F	TRIM21_ENST00000543625.1_Silent_p.F102F	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	102					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTTTCTCACAGAACAGGTGAA	0.557000													29	36					0	0	0.007291	0	0
SERPING1	710	broad.mit.edu	37	11	57369508	57369508	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:57369508G>A	ENST00000403558.1	+	3	1019	c.652_splice	c.e3-1	p.G218_splice	SERPING1_ENST00000378323.4_Splice_Site_p.G189_splice|SERPING1_ENST00000378324.2_Splice_Site_p.G132_splice|SERPING1_ENST00000340687.6_Splice_Site_p.G184_splice|SERPING1_ENST00000278407.4_Splice_Site_p.G184_splice	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	184					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TTTGTTGCAGGGGCTGGGGAG	0.557000													9	31					0	0	0.006214	0	0
TG	7038	broad.mit.edu	37	8	133882003	133882003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:133882003C>T	ENST00000220616.4	+	3	246	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TG_ENST00000377869.1_Missense_Mutation_p.S69F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	69	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACGGCCGCTCCTGCTGGTGT	0.662000													19	65					0	0	0.008871	0	0
NAALAD2	10003	broad.mit.edu	37	11	89916124	89916124	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:89916124C>T	ENST00000534061.1	+	18	2211	c.1981C>T	c.(1981-1983)Ctg>Ttg	p.L661L	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.L628L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	661					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTGATGCTCCTGGAAAGAGC	0.408000													46	108					0	0	0.003610	0	0
OR51L1	119682	broad.mit.edu	37	11	5021040	5021040	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5021040C>T	ENST00000321543.1	+	1	828	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGTCCACATCCTCATGGCAG	0.458000													18	38					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179597678	179597678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179597678C>T	ENST00000589042.1	-	55	16449	c.16225G>A	c.(16225-16227)Gaa>Aaa	p.E5409K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E5092K|TTN_ENST00000342992.6_Missense_Mutation_p.E4165K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5092							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)			GCTGTGCCTTCCACAAATGCT	0.483000													27	13					0	0	0.004656	0	0
CTSV	1515	broad.mit.edu	37	9	99798970	99798970	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:99798970G>A	ENST00000259470.5	-	5	705	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CTSV_ENST00000538255.1_Silent_p.F152F	NM_001333.3	NP_001324.2			cathepsin V																		CAGTTTTCCGGAACATCTGTC	0.473000													20	37					0	0	0.001523	0	0
CDH9	1007	broad.mit.edu	37	5	26881369	26881369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:26881369G>A	ENST00000231021.4	-	12	2418	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	749					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGAACTGAGCGAATCTGCTAT	0.443000													48	36					0	0	0.003610	0	0
DAAM2	23500	broad.mit.edu	37	6	39832259	39832259	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:39832259C>T	ENST00000538976.1	+	4	491	c.309C>T	c.(307-309)atC>atT	p.I103I	DAAM2_ENST00000398904.2_Silent_p.I103I|DAAM2_ENST00000274867.4_Silent_p.I103I|DAAM2_ENST00000494405.1_3'UTR	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	103	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTATTACATCGACCGCATCA	0.607000													6	22					0	0	0.004482	0	0
PXDNL	137902	broad.mit.edu	37	8	52469449	52469449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:52469449G>A	ENST00000356297.4	-	4	431	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.H111Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	111					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTAGTGCATGGATTTCATTC	0.274000													11	35					0	0	0.001368	0	0
TMC7	79905	broad.mit.edu	37	16	19020599	19020599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19020599C>T	ENST00000304381.5	+	2	303	c.173C>T	c.(172-174)tCc>tTc	p.S58F	TMC7_ENST00000421369.3_5'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.S58F	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	58						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACTGTCCATTCCCGGGACAAG	0.517000													21	37					0	0	0.001882	0	0
GAS2	2620	broad.mit.edu	37	11	22747923	22747923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:22747923C>T	ENST00000454584.2	+	4	658	c.353C>T	c.(352-354)tCc>tTc	p.S118F	GAS2_ENST00000278187.3_Missense_Mutation_p.S118F|GAS2_ENST00000433790.1_Missense_Mutation_p.S118F	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	118	CH.				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						AATTTCTTATCCTGGTGCCGA	0.393000													29	80					0	0	0.002836	0	0
RIOK1	83732	broad.mit.edu	37	6	7403060	7403060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:7403060G>A	ENST00000379834.2	+	8	1204	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	233	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATTTCGTCATGGCTATTGTAA	0.323000													16	61					0	0	0.004990	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121187	114121187	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:114121187C>T	ENST00000335953.4	+	7	2312	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Silent_p.S644S|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	644					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCCTCTCCTCCATGCAGAAGC	0.607000													13	19					0	0	0.001368	0	0
GNA12	2768	broad.mit.edu	37	7	2771243	2771243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:2771243G>A	ENST00000275364.3	-	4	880	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Nonsense_Mutation_p.Q92*|GNA12_ENST00000544127.1_Nonsense_Mutation_p.Q147*|GNA12_ENST00000407904.3_Nonsense_Mutation_p.Q181*|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407653.1_Nonsense_Mutation_p.Q164*	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	240					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TCGAAGCACTGGAACCACTTC	0.577000													113	90					0	0	0.003610	0	0
CDH15	1013	broad.mit.edu	37	16	89261465	89261465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:89261465C>T	ENST00000289746.2	+	14	2412	c.2347C>T	c.(2347-2349)Ccg>Tcg	p.P783S		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	783					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GTATGGGCACCCGTGCGGGTT	0.662000													14	37					0	0	0.002450	0	0
OR5D18	219438	broad.mit.edu	37	11	55587477	55587477	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:55587477C>T	ENST00000333976.4	+	1	392	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGACCGCTTCGTGGCCATTT	0.458000													37	117					0	0	0.006230	0	0
DMBT1	1755	broad.mit.edu	37	10	124390686	124390686	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124390686C>T	ENST00000368909.3	+	46	5954	c.5848C>T	c.(5848-5850)Ctg>Ttg	p.L1950L	DMBT1_ENST00000330163.4_Silent_p.L1322L|DMBT1_ENST00000368956.2_Silent_p.L1322L|DMBT1_ENST00000359586.6_Silent_p.L670L|DMBT1_ENST00000338354.3_Silent_p.L1950L|DMBT1_ENST00000344338.3_Silent_p.L1940L|DMBT1_ENST00000368955.3_Silent_p.L1940L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1950	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCATCACCCTGGACGATGT	0.552000													38	28					0	0	0.006230	0	0
PRX	57716	broad.mit.edu	37	19	40902863	40902863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:40902863G>A	ENST00000324001.7	-	7	1666	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	466	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCACCTCTGGGAGTCGAACC	0.597000													58	111					0	0	0.003610	0	0
LRP4	4038	broad.mit.edu	37	11	46916348	46916348	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46916348G>A	ENST00000378623.1	-	12	1574	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	444					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.F444F(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCGATTGGCGAACAGCAGCA	0.562000													24	52					0	0	0.004656	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	C	T	rs139469074		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:217297570C>T	ENST00000357276.4	+	8	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_ENST00000358207.5_Silent_p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	488	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517000									Schimke Immuno-Osseous Dysplasia				72	48					0	0	0.003610	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253759	11253759	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11253759G>A	ENST00000376819.3	+	3	839	c.600G>A	c.(598-600)ggG>ggA	p.G200G	MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_3'UTR	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	200	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCATCCGTGGGGACTTCTGGC	0.602000													17	37					0	0	0.004990	0	0
SCN11A	11280	broad.mit.edu	37	3	38889207	38889207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38889207G>A	ENST00000450244.1	-	26	4552	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	SCN11A_ENST00000302328.3_Nonsense_Mutation_p.Q1452*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q1414*			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1452					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTGCTCCTGATTTTCCAAG	0.507000													13	24					0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9560815	9560815	+	Missense_Mutation	SNP	C	C	T	rs143654195		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9560815C>T	ENST00000378429.3	-	5	1513	c.967G>A	c.(967-969)Gag>Aag	p.E323K	PAK7_ENST00000378423.1_Missense_Mutation_p.E323K|PAK7_ENST00000353224.5_Missense_Mutation_p.E323K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	323	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATTGTGGGCTCGGACAAGCGA	0.522000													72	181					0	0	0.003610	0	0
AMPD1	270	broad.mit.edu	37	1	115218587	115218587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115218587C>T	ENST00000369538.3	-	10	1560	c.1513G>A	c.(1513-1515)Gga>Aga	p.G505R	AMPD1_ENST00000353928.6_Missense_Mutation_p.G476R|AMPD1_ENST00000520113.2_Missense_Mutation_p.G509R	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	476					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGCATTTTTCCAAAATGTGGA	0.428000													73	73					0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326699	61326699	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:61326699G>A	ENST00000283752.5	-	4	428	c.285C>T	c.(283-285)tcC>tcT	p.S95S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.S95S	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	95					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGCATCAGTGGATTTGTTGA	0.383000													42	106					0	0	0.008740	0	0
OR13C9	286362	broad.mit.edu	37	9	107379931	107379931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:107379931C>T	ENST00000259362.1	-	1	554	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGGCCAACTTCATGACAGCTA	0.408000													21	21					0	0	0.001523	0	0
FBLN1	2192	broad.mit.edu	37	22	45937138	45937138	+	Missense_Mutation	SNP	C	C	T	rs113064196		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:45937138C>T	ENST00000348697.2	+	9	1099	c.952C>T	c.(952-954)Ccg>Tcg	p.P318S	FBLN1_ENST00000340923.5_Missense_Mutation_p.P318S|FBLN1_ENST00000327858.6_Missense_Mutation_p.P318S|FBLN1_ENST00000262722.7_Missense_Mutation_p.P318S|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Missense_Mutation_p.P356S|FBLN1_ENST00000442170.2_Missense_Mutation_p.P318S			P23142	FBLN1_HUMAN	fibulin 1	318	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TATCAGTGCCCCGTGCCCTAT	0.532000													26	48					0	0	0.004656	0	0
TNR	7143	broad.mit.edu	37	1	175355282	175355282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175355282G>A	ENST00000367674.1	-	8	2371	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S	TNR_ENST00000263525.2_Missense_Mutation_p.P555S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	555	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCTCAGGGGAGGCTGCAGC	0.607000													14	71					0	0	0.003163	0	0
RGPD3	653489	broad.mit.edu	37	2	107029659	107029659	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:107029659A>C	ENST00000409886.3	-	22	5234	c.5147T>G	c.(5146-5148)gTc>gGc	p.V1716G	RGPD3_ENST00000304514.7_Missense_Mutation_p.V1716G	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1716	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGCAGCAAGACGTTCTTCAA	0.408000													105	53					0	0	0.003610	0	0
ZBTB16	7704	broad.mit.edu	37	11	114027098	114027098	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:114027098C>T	ENST00000335953.4	+	3	1688	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	ZBTB16_ENST00000392996.2_Silent_p.L436L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	436					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGTGCGAGCTCTGCGGGAAGC	0.557000													22	17					0	0	0.007291	0	0
PRB4	5545	broad.mit.edu	37	12	11461474	11461474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:11461474C>T	ENST00000279575.1	-	3	476	c.443G>A	c.(442-444)gGa>gAa	p.G148E	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G148E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	211	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTACCTCCTTGTGGGGG	0.607000										HNSCC(22;0.051)			74	199					0	0	0.003610	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424676	89424676	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:89424676C>T	ENST00000532352.1	+	0	1839							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCGAGAGACTCCAGGACTTTG	0.274000													17	25					0	0	0.008871	0	0
ARID2	196528	broad.mit.edu	37	12	46230605	46230605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:46230605G>A	ENST00000334344.6	+	8	1026	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R136Q	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	285					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R285Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAAGGACAGCGGGTACTTCAG	0.403000			"""N, S, F"""		hepatocellular carcinoma								24	64					0	0	0.003954	0	0
NPPB	4879	broad.mit.edu	37	1	11918773	11918773	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11918773T>C	ENST00000376468.3	-	1	215	c.118A>G	c.(118-120)Acg>Gcg	p.T40A		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	40					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	AACCCGGACGTTTCCAAGTCC	0.622000													47	91					0	0	0.003610	0	0
AMPH	273	broad.mit.edu	37	7	38433605	38433605	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:38433605C>T	ENST00000356264.2	-	18	1823	c.1608_splice	c.e18+1	p.Q536_splice	AMPH_ENST00000428293.2_Splice_Site_p.Q494_splice|AMPH_ENST00000325590.5_Splice_Site_p.Q494_splice|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	536					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGACACTCACCTGAGGCACTG	0.517000													16	110					0	0	0.004007	0	0
LAMA2	3908	broad.mit.edu	37	6	129674493	129674493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:129674493G>A	ENST00000421865.2	+	32	4757	c.4708G>A	c.(4708-4710)Gag>Aag	p.E1570K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1570	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGAGGGCTGGGAGTGTGTTTG	0.552000													39	50					0	0	0.008740	0	0
PIWIL2	55124	broad.mit.edu	37	8	22140560	22140560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:22140560G>A	ENST00000356766.6	+	5	587	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G147R|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G147R	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	147					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCTTGGAAGAGGGAGTTCAGA	0.502000													13	45					0	0	0.003163	0	0
WDR34	89891	broad.mit.edu	37	9	131418973	131418973	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:131418973G>A	ENST00000372715.2	-	1	93	c.33C>T	c.(31-33)agC>agT	p.S11S		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	11						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTCCCGCCTGGCTGAGTGGCC	0.761000													5	3					0	0	0.001984	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499311	150499311	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150499311G>A	ENST00000484928.1	+	3	764	c.183G>A	c.(181-183)caG>caA	p.Q61Q	TMEM176A_ENST00000461345.1_Silent_p.Q2Q|TMEM176A_ENST00000004103.3_Silent_p.Q61Q			Q96HP8	T176A_HUMAN	transmembrane protein 176A	61						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGATGCAGATCGTGCTGG	0.557000													21	61					0	0	0.001523	0	0
ARNT	405	broad.mit.edu	37	1	150801696	150801696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:150801696C>T	ENST00000358595.5	-	12	1240	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N	ARNT_ENST00000515192.1_Missense_Mutation_p.S333N|ARNT_ENST00000354396.2_Missense_Mutation_p.S347N|ARNT_ENST00000505755.1_Missense_Mutation_p.S332N	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	347					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTGGGAGAACTAGTTACCTG	0.383000			T	ETV6	AML								18	102					0	0	0.008871	0	0
CPD	1362	broad.mit.edu	37	17	28770828	28770828	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:28770828G>A	ENST00000225719.4	+	11	2458	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	CPD_ENST00000543464.2_Silent_p.Q547Q	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	794	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGGTTCATCAGGGCGTCAGAG	0.378000													37	81					0	0	0.006230	0	0
NFKB1	4790	broad.mit.edu	37	4	103504093	103504093	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:103504093C>T	ENST00000226574.4	+	10	1373	c.906C>T	c.(904-906)tcC>tcT	p.S302S	NFKB1_ENST00000505458.1_Silent_p.S301S|NFKB1_ENST00000600343.1_Silent_p.S121S|NFKB1_ENST00000394820.4_Silent_p.S301S	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	301	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GAGATTTTTCCCCCACAGATG	0.373000													15	26					0	0	0.003163	0	0
CD40LG	959	broad.mit.edu	37	X	135730413	135730413	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:135730413C>T	ENST00000370629.2	+	1	62	c.6C>T	c.(4-6)atC>atT	p.I2I	CD40LG_ENST00000370628.2_Silent_p.I2I	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	2					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACAGCATGATCGAAACATACA	0.433000									Immune Deficiency with Hyper-IgM				27	15					0	0	0.007291	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217095	150217095	+	Silent	SNP	C	C	T	rs142236871	by1000genomes	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150217095C>T	ENST00000313543.4	+	2	190	c.33C>T	c.(31-33)atC>atT	p.I11I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	11							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTGAGGATCGTTCTGGTAG	0.498000													23	49					0	0	0.003954	0	0
ATP13A4	84239	broad.mit.edu	37	3	193153515	193153515	+	Silent	SNP	G	G	A	rs146990016		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:193153515G>A	ENST00000342695.4	-	24	3013	c.2691C>T	c.(2689-2691)ctC>ctT	p.L897L	ATP13A4_ENST00000392443.3_Silent_p.L878L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	897					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGGAGGTAACGAGAGCTGCAC	0.428000													24	35					0	0	0.004656	0	0
ZNF799	90576	broad.mit.edu	37	19	12502860	12502860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12502860G>A	ENST00000419318.1	-	4	1005	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.L118F|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.L118F			Q96GE5	ZN799_HUMAN	zinc finger protein 799	118	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TAACAATTAAGGGATGAATGA	0.438000													38	51					0	0	0.006999	0	0
AOX1	316	broad.mit.edu	37	2	201468806	201468806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:201468806C>T	ENST00000374700.2	+	8	896	c.655C>T	c.(655-657)Cct>Tct	p.P219S		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	219					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTGATATTTCCTCCTGAGCT	0.393000													27	17					0	0	0.005443	0	0
PPP1R36	145376	broad.mit.edu	37	14	65031494	65031494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:65031494G>A	ENST00000298705.1	+	4	304	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	70																	AGAAGTCAAGGAAAAAGGAAA	0.403000													88	138					0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117632270	117632270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117632270G>A	ENST00000368508.3	-	39	6344	c.6146C>T	c.(6145-6147)cCt>cTt	p.P2049L	ROS1_ENST00000368507.3_Missense_Mutation_p.P2043L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2049	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTGAGTAAAGGACCATAAAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								29	57					0	0	0.005443	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975058	7975058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:7975058G>A	ENST00000545011.1	+	3	442	c.377G>A	c.(376-378)aGg>aAg	p.R126K	MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000397981.3_Intron|MAP2K7_ENST00000397983.3_Intron			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	111	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGCCCAGCCAGGCTGGACCCA	0.687000													4	5					0	0	0.000248	0	0
RP1L1	94137	broad.mit.edu	37	8	10468038	10468038	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10468038C>T	ENST00000382483.3	-	4	3793	c.3570G>A	c.(3568-3570)acG>acA	p.T1190T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1190					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAAGTTCTCCGTCATGGCAT	0.627000													11	23					0	0	0.001368	0	0
POTED	317754	broad.mit.edu	37	21	14982936	14982936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:14982936G>A	ENST00000299443.5	+	1	439	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	129						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GCGCCTTCATGGAGCCGAGGT	0.602000													33	11					0	0	0.001786	0	0
USP7	7874	broad.mit.edu	37	16	8996003	8996003	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:8996003G>A	ENST00000344836.4	-	18	2181	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	USP7_ENST00000381886.4_Silent_p.F645F|USP7_ENST00000535863.1_Silent_p.F562F	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	661	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTGTTTCCAGGAATATTGTCC	0.463000													21	75					0	0	0.003330	0	0
TENM1	10178	broad.mit.edu	37	X	123514521	123514521	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:123514521C>T	ENST00000422452.2	-	32	8127	c.8064G>A	c.(8062-8064)aaG>aaA	p.K2688K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.K2681K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAAGCTGCTGCTTTTCCCCTT	0.498000													71	33					0	0	0.003610	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011572	46011572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46011572G>A	ENST00000400368.1	-	1	814	c.794C>T	c.(793-795)cCc>cTc	p.P265L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	265	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GTGCTGGCAGGGGGAGGAGGT	0.647000													35	77					0	0	0.002836	0	0
OR13G1	441933	broad.mit.edu	37	1	247835454	247835454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247835454C>T	ENST00000359688.2	-	1	911	c.890G>A	c.(889-891)gGa>gAa	p.G297E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTCCTAATTCCTGCCTGCAT	0.423000													27	111					0	0	0.002096	0	0
DUSP27	92235	broad.mit.edu	37	1	167088601	167088601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:167088601C>T	ENST00000361200.2	+	5	719	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	DUSP27_ENST00000271385.5_Nonsense_Mutation_p.Q185*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.Q185*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	185					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTGGAGATCCAGTACCTGGG	0.562000													21	48					0	0	0.002780	0	0
STAB2	55576	broad.mit.edu	37	12	104056714	104056714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:104056714C>T	ENST00000388887.2	+	18	2164	c.1960C>T	c.(1960-1962)Cct>Tct	p.P654S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	654					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTTCTCATTCCTCCCTCCAT	0.438000													44	76					0	0	0.003610	0	0
AOC1	26	broad.mit.edu	37	7	150553894	150553894	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150553894C>T	ENST00000493429.1	+	4	920	c.336C>T	c.(334-336)acC>acT	p.T112T	AOC1_ENST00000360937.4_Silent_p.T112T|AOC1_ENST00000467291.1_Silent_p.T112T|AOC1_ENST00000416793.2_Silent_p.T112T					amine oxidase, copper containing 1																		CCAATGTCACCGAGTTTGCTG	0.602000													23	75					0	0	0.002299	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819819	25819819	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:25819819A>G	ENST00000244527.4	-	5	564	c.449T>C	c.(448-450)gTt>gCt	p.V150A	SLC17A1_ENST00000468082.1_Missense_Mutation_p.V150A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V150A|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V150A	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	150					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GGCTGTTGCAACTATCCCCTG	0.388000													25	70					0	0	0.002780	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													7	20					0	0	0.003080	0	0
FMN2	56776	broad.mit.edu	37	1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240370340C>T	ENST00000319653.9	+	5	2458	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572000													10	47					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	215824000	215824000	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:215824000C>T	ENST00000366943.2	-	65	14663	c.14277G>A	c.(14275-14277)ggG>ggA	p.G4759G	USH2A_ENST00000307340.3_Silent_p.G4759G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4759	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTTGGGCTTCCCAGGGGCAC	0.587000										HNSCC(13;0.011)			39	160					0	0	0.002852	0	0
RRAS	6237	broad.mit.edu	37	19	50138891	50138891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:50138891G>A	ENST00000246792.3	-	6	701	c.599C>T	c.(598-600)cCg>cTg	p.P200L		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	200					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGGAGGGCTCGGTGGGAGCTC	0.617000													40	100					0	0	0.006999	0	0
ZNF765	91661	broad.mit.edu	37	19	53911937	53911937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:53911937C>T	ENST00000396408.3	+	4	1246	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TCATAGAGTTCATACTGGAGA	0.408000													24	35					0	0	0.002780	0	0
IMPG1	3617	broad.mit.edu	37	6	76657158	76657158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:76657158C>T	ENST00000369950.3	-	14	2106	c.1917G>A	c.(1915-1917)atG>atA	p.M639I	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	639	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TAGCAAACTTCATTTTGCTAT	0.433000													11	32					0	0	0.008291	0	0
LILRA3	11026	broad.mit.edu	37	19	54802032	54802032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54802032G>A	ENST00000391745.1	-	10	1523	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	LILRA3_ENST00000391744.3_Missense_Mutation_p.P322S|LILRA3_ENST00000251390.3_Missense_Mutation_p.P386S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGTCACAGGACTCATGGGG	0.587000													49	107					0	0	0.003610	0	0
TENM3	55714	broad.mit.edu	37	4	183713578	183713578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:183713578C>T	ENST00000511685.1	+	26	5876	c.5753C>T	c.(5752-5754)cCg>cTg	p.P1918L	TENM3_ENST00000406950.2_Missense_Mutation_p.P1918L					teneurin transmembrane protein 3																		TACAACCCCCCGGAAAGCAAC	0.532000													16	49					0	0	0.008871	0	0
F2RL1	2150	broad.mit.edu	37	5	76129575	76129575	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:76129575G>A	ENST00000296677.4	+	2	1349	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	381					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AACACTCCAGGAAATCCAGCT	0.463000													111	144					0	0	0.003610	0	0
SNORA71C	677839	broad.mit.edu	37	20	37058370	37058370	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:37058370G>A	ENST00000364642.1	-	0	76					NR_003017.2																						ACACGGGGAAGTGCTCTCGGC	0.602000													32	44					0	0	0.001786	0	0
SDK1	221935	broad.mit.edu	37	7	4014040	4014040	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:4014040G>A	ENST00000404826.2	+	13	1996	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S	SDK1_ENST00000389531.3_Silent_p.S619S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	619	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGACTCCATCGAGCACGTCTA	0.542000													60	35					0	0	0.003610	0	0
HNF4G	3174	broad.mit.edu	37	8	76459858	76459858	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:76459858G>A	ENST00000396423.2	+	3	418	c.294G>A	c.(292-294)agG>agA	p.R98R	HNF4G_ENST00000354370.1_Silent_p.R61R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	61					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)			AGGACAAAAGGAATCAATGTA	0.289000													43	105					0	0	0.003610	0	0
KCNK10	54207	broad.mit.edu	37	14	88789132	88789132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:88789132G>A	ENST00000319231.5	-	1	461	c.11C>T	c.(10-12)cCa>cTa	p.P4L	KCNK10_ENST00000340700.5_Intron	NM_138317.2	NP_612190.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CGTCTCGattggaaatttcat	0.498000													20	27					0	0	0.001523	0	0
SLIT1	6585	broad.mit.edu	37	10	98802662	98802662	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:98802662C>T	ENST00000266058.4	-	20	2405	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.E720E	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	720	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGTTACCTTCCTCACACCTGA	0.642000													21	20					0	0	0.008871	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718189	46718189	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:46718189G>A	ENST00000318962.4	-	18	2054	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	ALS2CL_ENST00000415953.1_Silent_p.I657I|ALS2CL_ENST00000383742.3_Silent_p.I4I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	657					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCTCCTCCAGGATGTCTTCCA	0.652000													23	46					0	0	0.003954	0	0
ARSE	415	broad.mit.edu	37	X	2878427	2878427	+	Silent	SNP	G	G	A	rs146870341		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:2878427G>A	ENST00000540563.1	-	2	131	c.42C>T	c.(40-42)caC>caT	p.H14H	ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000545496.1_5'UTR|ARSE_ENST00000381134.3_Silent_p.H5H			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	0					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				ACCAAGAATGGTGCAGATGTA	0.338000													17	15					0	0	0.008871	0	0
NOS3	4846	broad.mit.edu	37	7	150696302	150696302	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150696302C>T	ENST00000297494.3	+	9	1338	c.981C>T	c.(979-981)ggC>ggT	p.G327G	NOS3_ENST00000467517.1_Silent_p.G327G|NOS3_ENST00000461406.1_Silent_p.G121G|NOS3_ENST00000484524.1_Silent_p.G327G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	327	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGCCCTGGGCCTGCGCTGGT	0.652000													40	71					0	0	0.006999	0	0
TLL2	7093	broad.mit.edu	37	10	98192651	98192651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:98192651G>A	ENST00000357947.3	-	4	658	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	TLL2_ENST00000469598.1_Intron	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	145					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGACCCGGGGAGAGAAGGTC	0.552000													22	29					0	0	0.001882	0	0
TUSC3	7991	broad.mit.edu	37	8	15601097	15601097	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:15601097A>G	ENST00000382020.4	+	8	1121	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	TUSC3_ENST00000506802.1_Missense_Mutation_p.K305E|TUSC3_ENST00000503731.1_Missense_Mutation_p.K305E	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	305					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AGCAACTTCGAAAGGCGATGT	0.378000													92	206					0	0	0.003610	0	0
MPND	84954	broad.mit.edu	37	19	4359204	4359204	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:4359204G>A	ENST00000599840.1	+	12	1406	c.1371G>A	c.(1369-1371)agG>agA	p.R457R	MPND_ENST00000262966.8_Silent_p.R427R|MPND_ENST00000359935.4_Silent_p.R407R			Q8N594	MPND_HUMAN	MPN domain containing	427							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCGTGAGGCTCCAGGAAC	0.627000													13	32					0	0	0.001855	0	0
UNC13C	440279	broad.mit.edu	37	15	54685301	54685301	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:54685301A>T	ENST00000545554.1	+	17	4769	c.4769A>T	c.(4768-4770)gAt>gTt	p.D1590V	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1588V|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1590V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1590					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAATTTGGATTTTTGGCCC	0.393000													20	49					0	0	0.001523	0	0
POU6F2	11281	broad.mit.edu	37	7	39125630	39125630	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:39125630C>T	ENST00000518318.2	+	2	231	c.190_splice	c.e2+1	p.F63_splice	POU6F2_ENST00000464276.2_Splice_Site_p.F55_splice|POU6F2_ENST00000559001.1_Splice_Site_p.F55_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Splice_Site_p.F63_splice			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	63					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F63F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAAGCTCTTCGGTAAGTCTG	0.507000													13	52					0	0	0.001855	0	0
DDX58	23586	broad.mit.edu	37	9	32500845	32500845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:32500845C>T	ENST00000379883.2	-	2	356	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	DDX58_ENST00000379882.1_Intron|DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	67	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AACCAGCCTTCCTCCTGGAGC	0.448000													35	49					0	0	0.003271	0	0
CACNA1F	778	broad.mit.edu	37	X	49081361	49081361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:49081361G>A	ENST00000376265.2	-	14	1833	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	CACNA1F_ENST00000323022.5_Missense_Mutation_p.S580F|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S526F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	591					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTTGAAGAAGGAAGACACATA	0.552000													3	1					0	0	0.000248	0	0
FLJ33360	401172	broad.mit.edu	37	5	6312529	6312529	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:6312529C>T	ENST00000507444.1	-	0	443					NR_028351.1																						AAGACGGGTCCCTCCAGCCTG	0.587000													4	2					0	0	0.000248	0	0
RNASE9	390443	broad.mit.edu	37	14	21024965	21024965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21024965C>T	ENST00000557068.1	-	4	1989	c.264G>A	c.(262-264)atG>atA	p.M88I	RNASE9_ENST00000429244.2_Missense_Mutation_p.M88I|RNASE9_ENST00000338904.3_Missense_Mutation_p.M88I|RNASE9_ENST00000404716.3_Missense_Mutation_p.M93I|RNASE9_ENST00000554964.1_Missense_Mutation_p.M88I|RNASE9_ENST00000557209.1_Missense_Mutation_p.M93I|RNASE9_ENST00000555230.1_Missense_Mutation_p.M88I|RNASE9_ENST00000556208.1_Missense_Mutation_p.M93I|RNASE9_ENST00000553541.1_Missense_Mutation_p.M88I|RNASE9_ENST00000553706.1_Missense_Mutation_p.M93I			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	88						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CATTTTTTCCCATGATTTCAT	0.403000													42	90					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9063943	9063943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9063943C>T	ENST00000397910.4	-	3	23706	c.23503G>A	c.(23503-23505)Gag>Aag	p.E7835K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7837	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						CCGCTGGACTCCCTCAATCCA	0.542000													14	39					0	0	0.003163	0	0
SCAND3	114821	broad.mit.edu	37	6	28542663	28542663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:28542663C>T	ENST00000452236.2	-	3	2436	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	607					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CATTCTTTTTCACAAACTACA	0.418000													21	43					0	0	0.001523	0	0
RAB27B	5874	broad.mit.edu	37	18	52555288	52555288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:52555288G>A	ENST00000262094.5	+	5	927	c.406G>A	c.(406-408)Gac>Aac	p.D136N	RAB27B_ENST00000586594.1_3'UTR|RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	136					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CAACAAGGCAGACCTACCAGA	0.433000													41	93					0	0	0.007835	0	0
NR2F1	7025	broad.mit.edu	37	5	92923686	92923686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:92923686G>A	ENST00000327111.3	+	2	2214	c.527G>A	c.(526-528)gGg>gAg	p.G176E		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	176					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTCACCAACGGGGACCCCCTC	0.607000													44	28					0	0	0.003610	0	0
LGR6	59352	broad.mit.edu	37	1	202287257	202287257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:202287257C>T	ENST00000367278.3	+	18	1915	c.1826C>T	c.(1825-1827)aCc>aTc	p.T609I	LGR6_ENST00000255432.7_Missense_Mutation_p.T557I|LGR6_ENST00000439764.2_Missense_Mutation_p.T470I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	609						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCGCCAACACCTTGACTGGC	0.622000													19	83					0	0	0.007413	0	0
NUPL2	11097	broad.mit.edu	37	7	23240047	23240047	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:23240047C>G	ENST00000258742.5	+	7	1214	c.955C>G	c.(955-957)Ctt>Gtt	p.L319V		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	319	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTTCAGGACTTCCAGCTTC	0.522000													25	87					0	0	0.001786	0	0
PAN3	255967	broad.mit.edu	37	13	28840996	28840996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:28840996G>A	ENST00000399613.1	+	9	1019	c.956G>A	c.(955-957)tGc>tAc	p.C319Y	PAN3_ENST00000282391.5_Missense_Mutation_p.C207Y|PAN3_ENST00000380958.3_Missense_Mutation_p.C519Y			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	519	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGCCATATTGCCTTCGGAGG	0.343000													26	26					0	0	0.003954	0	0
KPNA1	3836	broad.mit.edu	37	3	122182787	122182787	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:122182787A>C	ENST00000344337.6	-	4	514		c.e4+1			NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCATAGCTCACCTTTTGAAA	0.353000													19	22					0	0	0.008871	0	0
CFAP54	144535	broad.mit.edu	37	12	97158896	97158896	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:97158896G>A	ENST00000524981.3	+	27	3534	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K				Q6ZTY8	CL063_HUMAN		1152										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTATTGGAAAGAAGAATACTA	0.313000													29	71					0	0	0.004289	0	0
BYSL	705	broad.mit.edu	37	6	41889369	41889369	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41889369C>T	ENST00000230340.4	+	1	444	c.69C>T	c.(67-69)atC>atT	p.I23I		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	23					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGATCAGATCCTGGCTGGGA	0.652000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	25					0	0	0.004878	0	0
LRP12	29967	broad.mit.edu	37	8	105509875	105509875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:105509875G>A	ENST00000276654.5	-	5	1013	c.905C>T	c.(904-906)aCt>aTt	p.T302I	LRP12_ENST00000424843.2_Missense_Mutation_p.T283I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	302	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTAAAGTCAGTGAAGCGTAA	0.378000													16	25					0	0	0.004007	0	0
ABCC3	8714	broad.mit.edu	37	17	48745836	48745836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:48745836G>A	ENST00000285238.8	+	14	1908	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	610					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGCCAAGAGGAACTTGACCC	0.567000													31	59					0	0	0.002096	0	0
PXDNL	137902	broad.mit.edu	37	8	52323826	52323826	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:52323826C>T	ENST00000356297.4	-	16	2146	c.2046G>A	c.(2044-2046)gtG>gtA	p.V682V	PXDNL_ENST00000543296.1_Silent_p.V682V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	682					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTCCAAGTCCACAGTGAGCC	0.507000													4	8					0	0	0.000248	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735092	41735092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:41735092C>T	ENST00000352645.4	+	9	970	c.713C>T	c.(712-714)gCc>gTc	p.A238V	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A238V	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	254					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GACCTGCTGGCCCCCCTGGAC	0.662000													41	69					0	0	0.006230	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314616	67314616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:67314616C>T	ENST00000360461.5	+	2	3037	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P168S|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P168S|PLEKHG4_ENST00000450733.1_Intron	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	168					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TTCCCAAGCCCCCAGTGGATC	0.612000													23	63					0	0	0.003954	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47202494	47202494	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:47202494G>A	ENST00000296861.2	-	5	2043	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	550					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACTCATCCACGAAGAAGCCCT	0.597000													4	14					0	0	0.000602	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58178429	58178429	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:58178429C>T	ENST00000318316.3	-	10	1387	c.903G>A	c.(901-903)aaG>aaA	p.K301K	DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000486455.1_Silent_p.K271K|DNASE1L3_ENST00000394549.2_Silent_p.K301K			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	301					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		AGCGTTTGCTCTTTGTTTTCT	0.413000													29	74					0	0	0.007291	0	0
TAF1L	138474	broad.mit.edu	37	9	32635109	32635109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:32635109G>A	ENST00000242310.4	-	1	558	c.469C>T	c.(469-471)Cct>Tct	p.P157S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	157	Pro-rich.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGGTGGAGGAGGCATCAAC	0.488000													18	57					0	0	0.006122	0	0
INTU	27152	broad.mit.edu	37	4	128627833	128627833	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:128627833C>T	ENST00000335251.5	+	12	2083	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	660										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGACTGGTTCCTTACTGGAT	0.453000													38	86					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179594491	179594491	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179594491G>A	ENST00000589042.1	-	63	18713	c.18489C>T	c.(18487-18489)ttC>ttT	p.F6163F	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F5846F|TTN_ENST00000342992.6_Silent_p.F4919F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5846							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)			CAGAAATCTGGAAAGTGGCTA	0.458000													84	44					0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	21960391	21960391	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:21960391C>T	ENST00000261200.4	-	36	4337	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	ABCC9_ENST00000345162.2_Silent_p.G1410G|ABCC9_ENST00000261201.4_Silent_p.G1446G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1446	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAATTCTCCCCACCTTCAG	0.418000													17	51					0	0	0.006122	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467032	21467032	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:21467032G>A	ENST00000281523.2	-	6	1322	c.804C>T	c.(802-804)caC>caT	p.H268H		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	268						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGATTTCACAGTGAAATGTTT	0.428000													32	69					0	0	0.002445	0	0
MKL2	57496	broad.mit.edu	37	16	14328110	14328110	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:14328110C>T	ENST00000571589.1	+	9	973	c.801C>T	c.(799-801)tcC>tcT	p.S267S	MKL2_ENST00000572567.1_Silent_p.S256S|MKL2_ENST00000573051.1_Silent_p.S216S|MKL2_ENST00000341243.5_Silent_p.S256S|MKL2_ENST00000318282.5_Silent_p.S267S|MKL2_ENST00000574045.1_Silent_p.S267S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	256					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACACTGTGTCCTCAGCAAAGC	0.532000													19	43					0	0	0.007413	0	0
SNHG14	104472715	broad.mit.edu	37	15	25325369	25325369	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:25325369G>A	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							CATTCTCGTCGAACTGAGGTC	0.463000													39	78					0	0	0.007835	0	0
GPR50	9248	broad.mit.edu	37	X	150349895	150349895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:150349895G>A	ENST00000218316.3	+	2	1909	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	614					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.E614*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCCTGATGAAATGGCTGT	0.453000													42	14					0	0	0.002222	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474341	145474341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:145474341C>T	ENST00000323397.4	+	4	2306	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	338	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCATGGAGCCAGTGGAGCTG	0.652000													8	44					0	0	0.003080	0	0
CD84	8832	broad.mit.edu	37	1	160523817	160523817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:160523817G>A	ENST00000368054.3	-	3	543	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	CD84_ENST00000368051.3_Missense_Mutation_p.P170S|CD84_ENST00000311224.4_Missense_Mutation_p.P170S|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Missense_Mutation_p.P170S|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.P56S	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	170	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTCCCAGGGGACTCCAATTG	0.448000													30	134					0	0	0.001786	0	0
PTGFR	5737	broad.mit.edu	37	1	78959101	78959101	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:78959101A>T	ENST00000370756.3	+	2	910	c.673A>T	c.(673-675)Att>Ttt	p.I225F	PTGFR_ENST00000370758.1_Missense_Mutation_p.I225F|PTGFR_ENST00000370757.3_Missense_Mutation_p.I225F	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	225					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AATCACAGGAATTACACTTTT	0.388000													19	52					0	0	0.001523	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270181	36270181	+	Missense_Mutation	SNP	G	G	A	rs144648025		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:36270181G>A	ENST00000394571.2	+	6	1319	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R354Q|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R345Q	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	440	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACACTGCCCCGAAGTTCTCTT	0.572000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	124					0	0	0.003610	0	0
MYH4	4622	broad.mit.edu	37	17	10362699	10362699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10362699C>T	ENST00000255381.2	-	15	1566	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	486	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCAGTTTCTCGTTGGTGAAG	0.433000													37	37					0	0	0.006230	0	0
TRAV36DV7	28646	broad.mit.edu	37	14	22694674	22694674	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22694674G>A	ENST00000390463.3	+	0	34																											AGTGTCCACAGGCTTTACTAG	0.433000													15	23					0	0	0.004990	0	0
SCN3A	6328	broad.mit.edu	37	2	165970408	165970408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:165970408C>T	ENST00000360093.3	-	20	4078	c.3587G>A	c.(3586-3588)cGa>cAa	p.R1196Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R1147Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1196Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1196						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCAGGTTTTTCGAAGATTCCA	0.343000													74	39					0	0	0.003610	0	0
YPEL5	51646	broad.mit.edu	37	2	30379533	30379533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:30379533C>T	ENST00000379520.3	+	4	520	c.16C>T	c.(16-18)Ctt>Ttt	p.L6F	YPEL5_ENST00000261353.4_Missense_Mutation_p.L6F|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402708.1_Missense_Mutation_p.L6F|YPEL5_ENST00000402003.3_Missense_Mutation_p.L6F|YPEL5_ENST00000379519.3_Missense_Mutation_p.L6F	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	6							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					CAGAATTTTCCTTGATCATAT	0.418000													78	46					0	0	0.003610	0	0
OR2C3	81472	broad.mit.edu	37	1	247694968	247694968	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247694968G>A	ENST00000366487.3	-	2	1207	c.846C>T	c.(844-846)gtC>gtT	p.V282V	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCGCAGGAGTGACTACGGTGT	0.532000													24	98					0	0	0.005443	0	0
NLRP4	147945	broad.mit.edu	37	19	56370296	56370296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56370296G>A	ENST00000301295.6	+	3	1959	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E438K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E513K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	513							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAAGGAACAAGAAAAACTGGA	0.423000													28	59					0	0	0.006320	0	0
FAM208B	54906	broad.mit.edu	37	10	5791322	5791322	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:5791322C>T	ENST00000328090.5	+	15	6563	c.5938C>T	c.(5938-5940)Ctg>Ttg	p.L1980L		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1980																	CCTGGAGTATCTGCGTTTTGC	0.507000													28	24					0	0	0.006320	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490542	102490542	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:102490542A>C	ENST00000413150.2	+	22	2435		c.e22-1		MAP4K4_ENST00000425019.1_Splice_Site|MAP4K4_ENST00000350878.4_Splice_Site|MAP4K4_ENST00000350198.4_Splice_Site|MAP4K4_ENST00000324219.4_Splice_Site|MAP4K4_ENST00000302217.5_Splice_Site|MAP4K4_ENST00000456652.1_Splice_Site|MAP4K4_ENST00000347699.4_Splice_Site	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4						intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTGTGTTTCAGTGGGATTTT	0.428000													21	11					0	0	0.002780	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057749	63057749	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63057749G>C	ENST00000332793.6	+	1	114	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Splice_Site	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	38						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATACTGCTAGAGAACTTTGC	0.448000													18	58					0	0	0.008871	0	0
FAM47B	170062	broad.mit.edu	37	X	34961419	34961419	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:34961419G>A	ENST00000329357.5	+	1	507	c.471G>A	c.(469-471)agG>agA	p.R157R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	157										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATCCCGAGAGGAAGCTGGAGG	0.572000													18	10					0	0	0.006122	0	0
CNTN3	5067	broad.mit.edu	37	3	74411041	74411041	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:74411041C>T	ENST00000263665.6	-	10	1391	c.1364_splice	c.e10+1	p.R455_splice		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	455	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATCAAAATACCTTTCATGCTC	0.448000													23	34					0	0	0.003954	0	0
ZNF229	7772	broad.mit.edu	37	19	44934700	44934700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:44934700C>T	ENST00000291187.4	-	6	560	c.238G>A	c.(238-240)Gat>Aat	p.D80N	ZNF229_ENST00000588931.1_Missense_Mutation_p.D86N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACTCCGTATCCTTTCCATTC	0.403000													6	33					0	0	0.001168	0	0
TMEM245	23731	broad.mit.edu	37	9	111812952	111812952	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:111812952G>A	ENST00000374586.3	-	13	1906	c.1875C>T	c.(1873-1875)atC>atT	p.I625I		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	625						integral to membrane											GGCTCATAACGATCCACAGAG	0.458000													13	16					0	0	0.003163	0	0
MMP12	4321	broad.mit.edu	37	11	102736603	102736603	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:102736603G>A	ENST00000532855.1	-	0	1204							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AAAACCAAAAGAATGTATGCT	0.328000													14	41					0	0	0.003163	0	0
CFHR1	3078	broad.mit.edu	37	1	196794623	196794623	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196794623T>C	ENST00000320493.5	+	2	163	c.75T>C	c.(73-75)ttT>ttC	p.F25F	CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Silent_p.F25F|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	25	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TTTGTGATTTTCCAAAAATAA	0.269000													6	47					0	0	0.003080	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356646	22356646	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22356646C>T	ENST00000390437.2	+	0	409																											AGACTCCCAGCCCAGTGATTC	0.507000													48	107					0	0	0.003610	0	0
GNG2	54331	broad.mit.edu	37	14	52433367	52433367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:52433367C>T	ENST00000335281.4	+	3	584	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	GNG2_ENST00000554736.1_Missense_Mutation_p.P60S|GNG2_ENST00000553432.1_Missense_Mutation_p.P91S|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556766.1_Missense_Mutation_p.P60S|GNG2_ENST00000557376.1_Missense_Mutation_p.P99S|GNG2_ENST00000555472.1_Missense_Mutation_p.P60S|GNG2_ENST00000556752.1_Missense_Mutation_p.P60S	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	60					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTCAGAAAACCCGTTTAGGGA	0.522000													37	88					0	0	0.007835	0	0
ASXL3	80816	broad.mit.edu	37	18	31320358	31320358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:31320358C>T	ENST00000269197.5	+	11	2990	c.2990C>T	c.(2989-2991)cCt>cTt	p.P997L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCAGCCCACCTGAGAAAGAA	0.438000													9	13					0	0	0.006214	0	0
YIF1B	90522	broad.mit.edu	37	19	38799877	38799877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38799877G>A	ENST00000392124.3	-	2	610	c.296C>T	c.(295-297)cCc>cTc	p.P99L	YIF1B_ENST00000339413.6_Missense_Mutation_p.P130L|YIF1B_ENST00000337679.8_Missense_Mutation_p.P127L|YIF1B_ENST00000329420.8_Missense_Mutation_p.P115L|YIF1B_ENST00000591784.1_Missense_Mutation_p.P99L|YIF1B_ENST00000591755.1_Missense_Mutation_p.P127L|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000592694.1_Missense_Mutation_p.P99L|YIF1B_ENST00000592246.1_Intron	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	130						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGTAGGTAGGGGAAGAACAG	0.607000													56	143					0	0	0.003610	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	50					0	0	0.000602	0	0
ABCG8	64241	broad.mit.edu	37	2	44102518	44102518	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:44102518G>A	ENST00000272286.2	+	11	1812	c.1722G>A	c.(1720-1722)ggG>ggA	p.G574G		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	574	ABC transmembrane type-2.		G -> E (in STSL).|G -> R (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCTCGCCGGGGGCTTCATGA	0.602000													243	124					0	0	0.003610	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475885	140475885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:140475885C>T	ENST00000194155.4	+	1	1659	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		504	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S504F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.687000													43	42					0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860504	43860504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:43860504G>A	ENST00000389420.3	-	9	1317	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P440S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	440	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGCTCCAAGGACTCATGTGA	0.318000													30	54					0	0	0.002836	0	0
LTN1	26046	broad.mit.edu	37	21	30338844	30338844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:30338844G>A	ENST00000361371.4	-	10	2119	c.1969C>T	c.(1969-1971)Cct>Tct	p.P657S	LTN1_ENST00000389194.2_Missense_Mutation_p.P703S|LTN1_ENST00000389195.2_Missense_Mutation_p.P703S	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	657							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGCACCGCAGGATTTTTTTGT	0.393000													16	37					0	0	0.006122	0	0
PHF20L1	51105	broad.mit.edu	37	8	133855107	133855107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:133855107G>A	ENST00000395386.2	+	19	3034	c.2735G>A	c.(2734-2736)gGa>gAa	p.G912E	PHF20L1_ENST00000395390.2_Missense_Mutation_p.G887E|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.G299E	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	912							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAAGAACATGGAATGCCTGAA	0.348000													40	86					0	0	0.002852	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664219	169664219	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:169664219C>T	ENST00000483289.2	-	0	3075				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						GCCACAAAGGCCTTGAAGCAC	0.522000													16	13					0	0	0.006122	0	0
FAT3	120114	broad.mit.edu	37	11	92539573	92539573	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:92539573A>T	ENST00000298047.6	+	11	9156	c.9139A>T	c.(9139-9141)Atc>Ttc	p.I3047F	FAT3_ENST00000409404.2_Missense_Mutation_p.I3047F|FAT3_ENST00000525166.1_Missense_Mutation_p.I2897F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3047	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCAAATAAAATCATCCTGAA	0.368000										TCGA Ovarian(4;0.039)			70	351					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34192204	34192204	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:34192204G>A	ENST00000373381.4	-	16	2627	c.2451C>T	c.(2449-2451)agC>agT	p.S817S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	777	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCAGGCACAGCTCAAGGCAT	0.612000													24	49					0	0	0.002780	0	0
OGFRL1	79627	broad.mit.edu	37	6	72003052	72003052	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:72003052G>A	ENST00000370435.4	+	2	425	c.291G>A	c.(289-291)agG>agA	p.R97R	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	97						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATGCTGCCAGGGATTTGTACA	0.378000													24	60					0	0	0.003954	0	0
SEPT9	10801	broad.mit.edu	37	17	75398431	75398431	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:75398431G>T	ENST00000329047.8	+	2	1125	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W	SEPT9_ENST00000590294.1_Missense_Mutation_p.G105W|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.G123W|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.G116W|SEPT9_ENST00000591198.1_Missense_Mutation_p.G104W	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	123					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGAGAACGCCGGGGCCATCGG	0.687000													9	26					3.86212e-05	4.62572e-05	0.008291	1	0
PYGL	5836	broad.mit.edu	37	14	51382199	51382199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:51382199G>A	ENST00000216392.7	-	11	1590	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	PYGL_ENST00000532462.1_Missense_Mutation_p.P420S|PYGL_ENST00000544180.2_Missense_Mutation_p.P386S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	420					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACATCTTTAGGAAACAAGGCC	0.458000													23	44					0	0	0.002780	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435605	7435605	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:7435605C>T	ENST00000319098.4	-	1	1095	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	334	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TGATGCACTCCTTCGTGATAG	0.562000													32	81					0	0	0.001786	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:71571180C>T	ENST00000338482.5	+	3	943	c.600C>T	c.(598-600)atC>atT	p.I200I	CHST4_ENST00000572450.1_Silent_p.I200I|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.I200I|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	200					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000													11	35					0	0	0.008291	0	0
CDHR5	53841	broad.mit.edu	37	11	619372	619372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:619372C>T	ENST00000358353.3	-	13	1634	c.1312G>A	c.(1312-1314)Gtg>Atg	p.V438M	CDHR5_ENST00000349570.7_Missense_Mutation_p.V438M|CDHR5_ENST00000397542.2_Missense_Mutation_p.V438M			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	438	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCAGAGGTCACCGTGTTGTGG	0.622000													9	20					0	0	0.006214	0	0
OR6C4	341418	broad.mit.edu	37	12	55945170	55945170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:55945170C>T	ENST00000394256.2	+	1	188	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCCCCACCTCCAGACCCCCAT	0.418000													45	113					0	0	0.003610	0	0
SEPT9	10801	broad.mit.edu	37	17	75398432	75398432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:75398432G>A	ENST00000329047.8	+	2	1126	c.314G>A	c.(313-315)gGg>gAg	p.G105E	SEPT9_ENST00000590294.1_Missense_Mutation_p.G105E|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.G123E|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.G116E|SEPT9_ENST00000591198.1_Missense_Mutation_p.G104E	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	123					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGAACGCCGGGGCCATCGGC	0.682000													10	26					0	0	0.008291	0	0
MUTYH	4595	broad.mit.edu	37	1	45798075	45798075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:45798075G>A	ENST00000450313.1	-	9	991	c.776C>T	c.(775-777)tCc>tTc	p.S259F	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000355498.2_Missense_Mutation_p.S231F|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.S231F|MUTYH_ENST00000448481.1_Missense_Mutation_p.S242F|MUTYH_ENST00000372110.3_Missense_Mutation_p.S246F|MUTYH_ENST00000372098.3_Missense_Mutation_p.S256F|MUTYH_ENST00000372100.5_Missense_Mutation_p.S242F|MUTYH_ENST00000372104.1_Missense_Mutation_p.S231F|MUTYH_ENST00000372115.3_Missense_Mutation_p.S245F|MUTYH_ENST00000354383.6_Missense_Mutation_p.S232F|MUTYH_ENST00000488731.2_Intron	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	256					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAGCTGCTGGGAAACAAGGGT	0.587000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				14	30					0	0	0.004007	0	0
ALX3	257	broad.mit.edu	37	1	110604122	110604122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110604122C>T	ENST00000369792.4	-	3	745	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTTCCGCCCCTCCTGGATC	0.627000													23	75					0	0	0.004656	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643803	121643803	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:121643803C>T	ENST00000489711.1	+	13	1435	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	SLC15A2_ENST00000295605.2_Silent_p.P318P	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	349					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCTAAATCCCCTTCTGGTTC	0.388000													51	62					0	0	0.003610	0	0
GALNT8	26290	broad.mit.edu	37	12	4873136	4873136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:4873136G>A	ENST00000252318.2	+	9	1853	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	506	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTATTGGATGAAAATGTCTG	0.493000													22	61					0	0	0.002780	0	0
LILRA2	11027	broad.mit.edu	37	19	55086465	55086465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55086465C>T	ENST00000251377.3	+	5	753	c.620C>T	c.(619-621)tCt>tTt	p.S207F	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S207F|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S207F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S195F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S207C(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TATGTGTGGTCTCTACCCAGT	0.587000													48	100					0	0	0.003610	0	0
TAAR8	83551	broad.mit.edu	37	6	132873887	132873887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132873887G>A	ENST00000275200.1	+	1	56	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	19						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GATGTGAATGGATCTTGTATT	0.433000													23	77					0	0	0.002299	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418031	4418031	+	Silent	SNP	C	C	T	rs143106881		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:4418031C>T	ENST00000301280.5	+	4	1076	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	325	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAAGAAATTCGTCAAAGGCT	0.348000								Chromatin Structure					26	52					0	0	0.007291	0	0
MYO18B	84700	broad.mit.edu	37	22	26231385	26231385	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:26231385C>T	ENST00000335473.7	+	17	3433	c.3183C>T	c.(3181-3183)ttC>ttT	p.F1061F	MYO18B_ENST00000407587.2_Silent_p.F1062F|MYO18B_ENST00000536101.1_Silent_p.F1061F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1061	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGCTGCTTTCGAGAAGAAAG	0.567000													43	77					0	0	0.003214	0	0
KCNS3	3790	broad.mit.edu	37	2	18113419	18113419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:18113419G>A	ENST00000403915.1	+	3	1595	c.1144G>A	c.(1144-1146)Gcg>Acg	p.A382T	KCNS3_ENST00000304101.4_Missense_Mutation_p.A382T|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	382					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTCACCTTGGCGGGAAAGCT	0.552000													53	25					0	0	0.003610	0	0
SIX4	51804	broad.mit.edu	37	14	61180583	61180583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:61180583G>A	ENST00000216513.4	-	3	1947	c.1888C>T	c.(1888-1890)Ccc>Tcc	p.P630S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	630						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGCTCAGTGGGATTTAGTAGT	0.473000													13	14					0	0	0.001855	0	0
TNN	63923	broad.mit.edu	37	1	175113555	175113555	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175113555T>C	ENST00000239462.4	+	18	3741	c.3628T>C	c.(3628-3630)Ttt>Ctt	p.F1210L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1210	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGATGGAAGTTTACAACTTT	0.507000													42	167					0	0	0.002222	0	0
RNF43	54894	broad.mit.edu	37	17	56435450	56435450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:56435450G>A	ENST00000584437.1	-	8	3642	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q563*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q563*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q522*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.Q436*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.Q436*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q522*			Q68DV7	RNF43_HUMAN	ring finger protein 43	563						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATGCCACTGGAACCGCTTT	0.622000													59	117					0	0	0.003610	0	0
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000263463.5_Missense_Mutation_p.R734Q|PGR_ENST00000534013.1_Missense_Mutation_p.R242Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R836Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGTTTGACTTCGTAGCCCTTC	0.383000													18	29					0	0	0.001523	0	0
KLKB1	3818	broad.mit.edu	37	4	187157998	187157998	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187157998T>G	ENST00000264690.6	+	5	579	c.392T>G	c.(391-393)gTt>gGt	p.V131G	KLKB1_ENST00000513864.1_Missense_Mutation_p.V131G	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	131	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTGTCTAAGGTTAGCAGTGTT	0.393000													20	50					0	0	0.008871	0	0
ARHGAP5	394	broad.mit.edu	37	14	32615492	32615492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:32615492C>T	ENST00000345122.3	+	4	4204	c.3889C>T	c.(3889-3891)Cgt>Tgt	p.R1297C	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R1296C|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.R36C|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.R32C|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R1296C|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R1297C	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1297	Rho-GAP.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R1297C(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGGACTCTACCGTGTCAGCGG	0.353000													12	29					0	0	0.002450	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33410236	33410236	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:33410236C>T	ENST00000418600.2	+	14	2402	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.I708I|SYNGAP1_ENST00000293748.5_Silent_p.I767I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	767					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCAGCTCCATCGACCTTCAGT	0.592000													46	129					0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23902789	23902789	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23902789G>A	ENST00000355349.3	-	3	315	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	51	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGAGACACGATCTTGGCCT	0.557000													54	104					0	0	0.003610	0	0
OR2A5	393046	broad.mit.edu	37	7	143747845	143747845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143747845G>A	ENST00000408906.2	+	1	385	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTTGGTAATGATGTCCTACG	0.458000													44	120					0	0	0.002852	0	0
DPYD	1806	broad.mit.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:98164976G>A	ENST00000370192.3	-	6	711	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	204					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCCAAAAAGGAAGCACAACT	0.393000													29	75					0	0	0.001786	0	0
TOP3B	8940	broad.mit.edu	37	22	22322018	22322018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:22322018G>A	ENST00000398793.2	-	8	1243	c.809C>T	c.(808-810)gCa>gTa	p.A270V	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.A270V	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	270					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AAACATCTGTGCGATCTCCCG	0.502000													28	67					0	0	0.001786	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209195	71209195	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:71209195C>T	ENST00000554752.2	-	6	1439	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	MAP3K9_ENST00000553414.1_Silent_p.L174L|MAP3K9_ENST00000554146.1_Silent_p.L217L|MAP3K9_ENST00000381250.4_Silent_p.L480L|MAP3K9_ENST00000555993.2_Silent_p.L480L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	480	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCTCCCGTTCCAGGATGTCAA	0.622000													12	36					0	0	0.001368	0	0
FAM83B	222584	broad.mit.edu	37	6	54805432	54805432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:54805432G>A	ENST00000306858.7	+	5	1779	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	555										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGAGCAAAAGGAAGTTAACAG	0.428000													14	32					0	0	0.003163	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163545	32163545	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:32163545C>T	ENST00000564145.1	-	0	65																											CCAAACTCATCGTGCACAATT	0.582000													9	71					0	0	0.008291	0	0
PDE6G	5148	broad.mit.edu	37	17	79620265	79620265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:79620265C>T	ENST00000573076.1	-	2	696	c.221G>A	c.(220-222)aGg>aAg	p.R74K	PDE6G_ENST00000331056.5_Missense_Mutation_p.R24K|PDE6G_ENST00000571004.1_Missense_Mutation_p.R24K|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Missense_Mutation_p.R24K			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	24					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGCCCTTTCCTGGGGGTGAC	0.627000													45	91					0	0	0.003610	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31125012	31125012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:31125012G>A	ENST00000304166.4	+	9	913	c.624G>A	c.(622-624)tgG>tgA	p.W208*	ADCYAP1R1_ENST00000396211.2_Nonsense_Mutation_p.W208*|ADCYAP1R1_ENST00000409363.1_Nonsense_Mutation_p.W187*|ADCYAP1R1_ENST00000409489.1_Nonsense_Mutation_p.W208*	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	208					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.W208C(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCAAAGACTGGATTCTGTATG	0.547000													103	83					0	0	0.003610	0	0
SLC22A9	114571	broad.mit.edu	37	11	63143178	63143178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63143178G>A	ENST00000279178.3	+	5	1141	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	298					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGGCTTAAAGGAACTTAGAAA	0.498000													19	49					0	0	0.006122	0	0
PTK2	5747	broad.mit.edu	37	8	141900847	141900847	+	Translation_Start_Site	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:141900847G>C	ENST00000522684.1	-	0	219				PTK2_ENST00000521059.1_De_novo_Start_OutOfFrame|PTK2_ENST00000520892.1_De_novo_Start_OutOfFrame|PTK2_ENST00000517887.1_Missense_Mutation_p.S41C|PTK2_ENST00000519881.1_De_novo_Start_OutOfFrame|PTK2_ENST00000519419.1_Missense_Mutation_p.S41C|PTK2_ENST00000340930.3_De_novo_Start_OutOfFrame|PTK2_ENST00000535192.1_De_novo_Start_OutOfFrame|PTK2_ENST00000395218.2_De_novo_Start_OutOfFrame	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TATTTTGCTAGATGCTAGGTA	0.348000													32	44					0	0	0.002445	0	0
CSMD1	64478	broad.mit.edu	37	8	3889592	3889592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:3889592C>T	ENST00000602557.1	-	4	1000	c.445G>A	c.(445-447)Gga>Aga	p.G149R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G149R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G149R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G149R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G149R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G149R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G149R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	149	Sushi 1.					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)		AGGATTTCTCCAGGATTTCCA	0.413000													13	45					0	0	0.001368	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702856	46702856	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46702856T>C	ENST00000311956.4	-	6	620	c.523A>G	c.(523-525)Aag>Gag	p.K175E		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	175	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ATGAGGGGCTTGAAGAGGATG	0.567000													24	75					0	0	0.007291	0	0
NUTM1	256646	broad.mit.edu	37	15	34640675	34640675	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:34640675C>T	ENST00000537011.1	+	3	988	c.606C>T	c.(604-606)ccC>ccT	p.P202P	NUTM1_ENST00000333756.4_Silent_p.P174P|NUTM1_ENST00000438749.3_Silent_p.P192P					NUT midline carcinoma, family member 1																		CCATTGTGCCCCTGGAAAAAG	0.597000													9	19					0	0	0.006214	0	0
CUZD1	50624	broad.mit.edu	37	10	124595698	124595698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124595698C>T	ENST00000368904.1	-	8	1935	c.986G>A	c.(985-987)aGa>aAa	p.R329K	CUZD1_ENST00000392790.1_Missense_Mutation_p.R329K|CUZD1_ENST00000545804.1_Missense_Mutation_p.R329K			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	329	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTTACCTTTCTGATTGTACC	0.388000													29	36					0	0	0.002836	0	0
CHRD	8646	broad.mit.edu	37	3	184102390	184102390	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:184102390C>T	ENST00000204604.1	+	13	1752	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.F132F|CHRD_ENST00000348986.3_Silent_p.F462F|CHRD_ENST00000450923.1_Silent_p.F502F	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	502	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGAGCTCTTCCTGAACGTGG	0.647000													60	49					0	0	0.003610	0	0
PFDN2	5202	broad.mit.edu	37	1	161071905	161071905	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:161071905A>C	ENST00000368010.3	-	3	305	c.221T>G	c.(220-222)gTt>gGt	p.V74G	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	74					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CACTCCTCCAACCATGCGGTA	0.517000													16	98					0	0	0.004990	0	0
ERC2	26059	broad.mit.edu	37	3	56207483	56207483	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:56207483G>A	ENST00000288221.6	-	4	1395	c.1140C>T	c.(1138-1140)atC>atT	p.I380I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	380						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTCATTTCGATGACAGTCT	0.468000													26	44					0	0	0.006320	0	0
KMT2C	58508	broad.mit.edu	37	7	151878118	151878118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:151878118G>A	ENST00000355193.2	-	36	7045	c.6827C>T	c.(6826-6828)cCt>cTt	p.P2276L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2276L					lysine (K)-specific methyltransferase 2C																		AGGGGGCCTAGGTGTCTGGGA	0.532000													29	59					0	0	0.001786	0	0
ABCA13	154664	broad.mit.edu	37	7	48349586	48349586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:48349586G>A	ENST00000435803.1	+	24	9388	c.9364G>A	c.(9364-9366)Gat>Aat	p.D3122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3122					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAAAGTGTGATCAGGAAAT	0.478000													25	154					0	0	0.004656	0	0
LRRC66	339977	broad.mit.edu	37	4	52861055	52861055	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:52861055G>A	ENST00000343457.3	-	4	2139	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	711						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGCTCAGAGTGAACAGAGACC	0.527000													34	49					0	0	0.003755	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265234	42265234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:42265234G>A	ENST00000199764.6	+	3	720	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	168	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTTCACCTGTGAACCTGAGGT	0.567000													80	142					0	0	0.003610	0	0
MDN1	23195	broad.mit.edu	37	6	90468564	90468564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:90468564G>A	ENST00000369393.3	-	18	2691	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F	MDN1_ENST00000428876.1_Missense_Mutation_p.S859F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	859					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAACACCAGGGATCCAGAAGA	0.458000													23	38					0	0	0.003330	0	0
PRKCG	5582	broad.mit.edu	37	19	54394975	54394975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54394975G>A	ENST00000263431.3	+	6	859	c.577G>A	c.(577-579)Gat>Aat	p.D193N	PRKCG_ENST00000542049.1_Missense_Mutation_p.D80N|PRKCG_ENST00000540413.1_Missense_Mutation_p.D193N|PRKCG_ENST00000536044.1_Missense_Mutation_p.D193N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	193	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.D193N(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGGTCTCTCTGATCCCTATGT	0.537000													40	101					0	0	0.002852	0	0
TTN	7273	broad.mit.edu	37	2	179597667	179597667	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179597667G>A	ENST00000589042.1	-	55	16460	c.16236C>T	c.(16234-16236)gcC>gcT	p.A5412A	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.A5095A|TTN_ENST00000342992.6_Silent_p.A4168A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5095							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)			TCTCCAAAGAGGCTGTGCCTT	0.483000													29	14					0	0	0.006320	0	0
ZNF556	80032	broad.mit.edu	37	19	2877909	2877909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:2877909G>A	ENST00000586426.1	+	4	1037	c.950G>A	c.(949-951)gGa>gAa	p.G317E	ZNF556_ENST00000307635.2_Missense_Mutation_p.G318E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATAAGTGTGGAAAATGCGGG	0.507000													27	41					0	0	0.007291	0	0
CREBRF	153222	broad.mit.edu	37	5	172517345	172517345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:172517345C>T	ENST00000540014.1	+	4	482	c.163C>T	c.(163-165)Cct>Tct	p.P55S	CREBRF_ENST00000520420.1_Missense_Mutation_p.P55S|CREBRF_ENST00000296953.2_Missense_Mutation_p.P55S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P55S			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	55							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CCAACAGAATCCTAGAGACAA	0.373000													18	20					0	0	0.007413	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914706	94914706	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94914706T>G	ENST00000334708.3	-	2	470	c.406A>C	c.(406-408)Aaa>Caa	p.K136Q	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	136					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.K318*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TTTCCTACTTTTAGTTCGAGT	0.532000													80	73					0	0	0.003610	0	0
HDAC11	79885	broad.mit.edu	37	3	13543387	13543387	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:13543387T>G	ENST00000295757.3	+	7	689	c.506T>G	c.(505-507)gTg>gGg	p.V169G	HDAC11_ENST00000522202.1_Missense_Mutation_p.V118G|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000437379.2_Missense_Mutation_p.V141G|HDAC11_ENST00000433119.1_Missense_Mutation_p.W127G|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402271.1_Missense_Mutation_p.V90G	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	169	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTTGAGCGTGTGGAGGGCATC	0.612000													33	85					0	0	0.006999	0	0
DSP	1832	broad.mit.edu	37	6	7583627	7583627	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:7583627C>T	ENST00000379802.3	+	24	6473	c.6132C>T	c.(6130-6132)tcC>tcT	p.S2044S	DSP_ENST00000418664.2_Silent_p.S1445S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2044	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCCAGAATCCACAGTCATGC	0.502000													26	146					0	0	0.005443	0	0
ANKIB1	54467	broad.mit.edu	37	7	91936786	91936786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:91936786C>T	ENST00000265742.3	+	3	678	c.302C>T	c.(301-303)cCt>cTt	p.P101L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	101							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCCTTCATCCTCGCTTGGCA	0.418000													34	78					0	0	0.003271	0	0
SLC13A2	9058	broad.mit.edu	37	17	26800787	26800787	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:26800787C>T	ENST00000444914.3	+	1	477	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SLC13A2_ENST00000545060.1_Silent_p.F19F|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Silent_p.F19F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	19						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCGTGTTCTTCGTGCCCATTC	0.607000													10	21					0	0	0.001368	0	0
ARL2	402	broad.mit.edu	37	11	64785862	64785862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:64785862C>T	ENST00000246747.4	+	2	187	c.92C>T	c.(91-93)aCc>aTc	p.T31I	SNX15_ENST00000301886.3_3'UTR|ARL2_ENST00000533729.1_Missense_Mutation_p.T31I|ARL2_ENST00000529384.1_Missense_Mutation_p.T31I	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	31					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAAAGACAACCATCCTGAAG	0.582000													4	9					0	0	0.000248	0	0
USP19	10869	broad.mit.edu	37	3	49149150	49149150	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49149150G>A	ENST00000453664.1	-	21	3282	c.2964C>T	c.(2962-2964)tcC>tcT	p.S988S	USP19_ENST00000398898.2_Silent_p.S937S|USP19_ENST00000398896.1_Silent_p.S705S|USP19_ENST00000434032.2_Silent_p.S998S|USP19_ENST00000398892.3_Silent_p.S937S|USP19_ENST00000398888.2_Silent_p.S897S|USP19_ENST00000417901.1_Silent_p.S1000S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	897					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCCTCCAGGGAACCTGTGG	0.637000													20	47					0	0	0.002299	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281594	103281594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:103281594G>A	ENST00000233969.2	+	3	931	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	263						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGCCAGATGAAAACCATTG	0.463000													84	53					0	0	0.003610	0	0
GLG1	2734	broad.mit.edu	37	16	74493682	74493682	+	Silent	SNP	G	G	A	rs139538436		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:74493682G>A	ENST00000422840.2	-	23	3041	c.3042C>T	c.(3040-3042)tcC>tcT	p.S1014S	GLG1_ENST00000205061.5_Silent_p.S1014S|GLG1_ENST00000447066.2_Silent_p.S1003S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1014						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACATAGACTGGAGATCTGTT	0.423000													10	17					0	0	0.000978	0	0
BAAT	570	broad.mit.edu	37	9	104133228	104133228	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:104133228G>A	ENST00000259407.2	-	2	567	c.459C>T	c.(457-459)ctC>ctT	p.L153L	BAAT_ENST00000395051.3_Silent_p.L153L	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	153					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CACCTGGAGGGAGAAAGAGAG	0.438000													31	36					0	0	0.003271	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490332	141490332	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:141490332C>T	ENST00000247883.4	+	1	316	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	57					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GCCGATTTCTCCTGCAGTGGC	0.483000													30	56					0	0	0.002096	0	0
OR51B5	282763	broad.mit.edu	37	11	5363817	5363817	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5363817C>T	ENST00000300773.2	-	1	992	c.938G>A	c.(937-939)tGa>tAa	p.*313*	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGGAGATCAGGTTCCAAT	0.383000													11	26					0	0	0.000978	0	0
ANO5	203859	broad.mit.edu	37	11	22242716	22242716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:22242716C>T	ENST00000324559.8	+	5	571	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	85						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGTGCTTTCCTACGTTGAT	0.343000													9	34					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	114290842	114290842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:114290842C>T	ENST00000297405.5	-	3	737	c.493G>A	c.(493-495)Gga>Aga	p.G165R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G125R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G165R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G165R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	165	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTTAAATCCATGAGCACTA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	31					0	0	0.002450	0	0
ALX3	257	broad.mit.edu	37	1	110604123	110604123	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110604123C>T	ENST00000369792.4	-	3	744	c.657G>A	c.(655-657)gaG>gaA	p.E219E	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTTCCGCCCCTCCTGGATCT	0.627000													23	77					0	0	0.004656	0	0
OR56A4	120793	broad.mit.edu	37	11	6023588	6023588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6023588G>A	ENST00000330728.4	-	1	836	c.791C>T	c.(790-792)tCt>tTt	p.S264F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATAAGATCAGAGCCCAACAG	0.463000													16	25					0	0	0.003163	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121520	12121520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:12121520G>T	ENST00000379388.2	+	4	1824	c.1492G>T	c.(1492-1494)Gaa>Taa	p.E498*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	498					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGCGAGGAGGAAGGCGCCAC	0.502000													27	39					7.92952e-12	9.53744e-12	0.003954	1	0
DAB1	1600	broad.mit.edu	37	1	57476931	57476931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:57476931G>A	ENST00000371236.2	-	13	1722	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S	DAB1_ENST00000420954.2_Missense_Mutation_p.P485S|DAB1_ENST00000371234.4_Missense_Mutation_p.P487S|DAB1_ENST00000414851.2_Missense_Mutation_p.P469S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P520S|DAB1_ENST00000439789.2_Missense_Mutation_p.P401S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	520					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTCTGTCTAGGGGCTGGGGTT	0.478000													41	86					0	0	0.003214	0	0
STOML3	161003	broad.mit.edu	37	13	39550716	39550716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:39550716G>A	ENST00000379631.4	-	3	534	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	STOML3_ENST00000423210.1_Missense_Mutation_p.R55C	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	64						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CGTCCCAGACGGAATACAACA	0.473000													17	21					0	0	0.008871	0	0
NPY5R	4889	broad.mit.edu	37	4	164272412	164272412	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:164272412C>T	ENST00000515560.1	+	4	2509	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NPY5R_ENST00000338566.3_Silent_p.F329F|NPY5R_ENST00000506953.1_Silent_p.F329F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	329					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CCAGTAAGTTCATACCAGGGG	0.393000													18	37					0	0	0.001523	0	0
OR2T1	26696	broad.mit.edu	37	1	248569979	248569979	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248569979C>T	ENST00000366474.1	+	1	684	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCACTTCTTCTGTGAGGCAC	0.512000													24	108					0	0	0.003954	0	0
PSG3	5671	broad.mit.edu	37	19	43236937	43236937	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:43236937G>A	ENST00000327495.5	-	3	892	c.709_splice	c.e3+1	p.L236_splice	PSG3_ENST00000595140.1_Splice_Site_p.L236_splice	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	236					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATACTCACGGAGGAGATTCA	0.537000													106	202					0	0	0.003610	0	0
GCM2	9247	broad.mit.edu	37	6	10875048	10875048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:10875048G>A	ENST00000379491.4	-	5	848	c.701C>T	c.(700-702)tCc>tTc	p.S234F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	234					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTTTGGGAAGGAAGGGCAAGG	0.453000													56	73					0	0	0.003610	0	0
BDKRB2	624	broad.mit.edu	37	14	96706806	96706806	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:96706806C>T	ENST00000542454.2	+	3	3148	c.60C>T	c.(58-60)tgC>tgT	p.C20C	BDKRB2_ENST00000539359.1_Silent_p.C20C|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.C47C|BDKRB2_ENST00000306005.3_Silent_p.C47C			P30411	BKRB2_HUMAN	bradykinin receptor B2	47					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGAGCAAATGCCCCCAAGTGG	0.577000													57	59					0	0	0.003610	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608822	2608822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:2608822C>T	ENST00000155840.5	+	9	1259	c.1151C>T	c.(1150-1152)gCc>gTc	p.A384V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A257V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	384					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGCTATGCTGCCGAGAACCCC	0.647000													88	224					0	0	0.003610	0	0
CHP2	63928	broad.mit.edu	37	16	23768600	23768600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:23768600G>A	ENST00000300113.2	+	6	916	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	165	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCAGGAGGCTGATGAAGATGG	0.567000													15	36					0	0	0.002450	0	0
FBXL7	23194	broad.mit.edu	37	5	15936668	15936668	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:15936668C>T	ENST00000504595.1	+	4	1330	c.849C>T	c.(847-849)ttC>ttT	p.F283F	FBXL7_ENST00000329673.7_Silent_p.F271F|FBXL7_ENST00000510662.1_Silent_p.F236F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	283					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGACTGCTTCGTGCTGGAGG	0.617000													32	23					0	0	0.004289	0	0
OR13G1	441933	broad.mit.edu	37	1	247836293	247836293	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247836293C>T	ENST00000359688.2	-	1	72	c.51G>A	c.(49-51)aaG>aaA	p.K17K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAGTTCAGGCTTTTTGGTGA	0.398000													17	85					0	0	0.008871	0	0
NEGR1	257194	broad.mit.edu	37	1	72076757	72076757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:72076757C>T	ENST00000357731.4	-	5	979	c.740G>A	c.(739-741)gGt>gAt	p.G247D	NEGR1_ENST00000434200.1_Missense_Mutation_p.G201D|NEGR1_ENST00000306821.3_Missense_Mutation_p.G119D	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	247	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CACACCTGCACCTTCACATCT	0.453000													31	79					0	0	0.002836	0	0
RHBDL1	9028	broad.mit.edu	37	16	727513	727513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:727513G>A	ENST00000219551.2	+	5	965	c.938G>A	c.(937-939)gGc>gAc	p.G313D	RHBDL1_ENST00000352681.3_Missense_Mutation_p.G248D			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	313					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GGAGGCTCCGGCGGGGTCTAC	0.721000													11	25					0	0	0.002450	0	0
OR51B4	79339	broad.mit.edu	37	11	5322301	5322301	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5322301C>T	ENST00000380224.1	-	1	925	c.876G>A	c.(874-876)aaG>aaA	p.K292K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTTGGTCTTGATGCTAT	0.433000													11	51					0	0	0.008291	0	0
ADH7	131	broad.mit.edu	37	4	100349108	100349108	+	Missense_Mutation	SNP	C	C	T	rs72552718		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:100349108C>T	ENST00000437033.2	-	5	889	c.386G>A	c.(385-387)aGa>aAa	p.R129K	ADH7_ENST00000482593.1_Missense_Mutation_p.R72K|ADH7_ENST00000476959.1_Missense_Mutation_p.R149K|ADH7_ENST00000209665.4_Missense_Mutation_p.R141K			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	141					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GCATGTAAATCTGGTGGTGCC	0.383000													37	85					0	0	0.006999	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611694	84611694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:84611694G>A	ENST00000286744.5	+	19	2574	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V784I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	784	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAACAGAAGAGTCACCTGTCG	0.547000													14	36					0	0	0.001855	0	0
LAMTOR2	28956	broad.mit.edu	37	1	156028139	156028139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156028139C>T	ENST00000368305.4	+	4	493	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	LAMTOR2_ENST00000368302.3_Missense_Mutation_p.P131L|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.L89F	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	119					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GGAGGAGCCCCTCACCCAAGT	0.572000													67	138					0	0	0.003610	0	0
TMC4	147798	broad.mit.edu	37	19	54676765	54676765	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54676765C>T	ENST00000376591.4	-	1	179	c.48G>A	c.(46-48)agG>agA	p.R16R	TMC4_ENST00000301187.4_Silent_p.R16R	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	16						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGCCACCCCCTAGAGGAGC	0.632000													37	104					0	0	0.003610	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032718	46032718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46032718C>T	ENST00000334662.2	+	1	723	c.701C>T	c.(700-702)tCc>tTc	p.S234F	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	234	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						cctgcctcctcctgccagccc	0.711000													11	22					0	0	0.008291	0	0
OR52E6	390078	broad.mit.edu	37	11	5862440	5862440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5862440G>A	ENST00000329322.5	-	1	687	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	OR52E6_ENST00000379946.2_Missense_Mutation_p.P234S|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCAGGAGGGCAGGCAGAAG	0.433000													16	30					0	0	0.003163	0	0
ITLN2	142683	broad.mit.edu	37	1	160920382	160920382	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:160920382G>A	ENST00000368029.3	-	5	618	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	187	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCTCTGGAGGAAGCCAGTGT	0.567000													78	129					0	0	0.003610	0	0
PROKR2	128674	broad.mit.edu	37	20	5282768	5282768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:5282768C>T	ENST00000546004.1	-	3	1319	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	PROKR2_ENST00000217270.3_Missense_Mutation_p.G358E			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	358						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGACTTGCTCCCCCGCTGGGA	0.547000										HNSCC(71;0.22)			16	59					0	0	0.004990	0	0
DOCK8	81704	broad.mit.edu	37	9	463581	463581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:463581G>A	ENST00000432829.2	+	47	6245	c.5929G>A	c.(5929-5931)Gaa>Aaa	p.E1977K	RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1945K|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1512K|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.E2045K|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2045					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATATCAGCAGGAACTCAAAAA	0.413000													25	47					0	0	0.003330	0	0
ANK2	287	broad.mit.edu	37	4	114277367	114277367	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:114277367A>G	ENST00000357077.4	+	38	7646	c.7593A>G	c.(7591-7593)tcA>tcG	p.S2531S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.S2498S|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2498					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGAGAGCTCAGGGAAGAGCC	0.547000													32	79					0	0	0.002836	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469223	21469223	+	Missense_Mutation	SNP	G	G	A	rs144375696	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21469223G>A	ENST00000298681.4	+	4	572	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	139						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGCAGGACGAAGAATGGGG	0.547000													42	108					0	0	0.002222	0	0
ITIH1	3697	broad.mit.edu	37	3	52821082	52821082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:52821082G>A	ENST00000273283.2	+	14	1879	c.1855G>A	c.(1855-1857)Ggc>Agc	p.G619S	ITIH1_ENST00000540715.1_Missense_Mutation_p.G477S|ITIH1_ENST00000542827.1_Missense_Mutation_p.G619S|ITIH1_ENST00000537050.1_Missense_Mutation_p.G331S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	619	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGACCAGGACGGCCTGAAGCC	0.592000													26	71					0	0	0.002836	0	0
PEAR1	375033	broad.mit.edu	37	1	156874579	156874579	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156874579C>T	ENST00000338302.3	+	4	366	c.141C>T	c.(139-141)ttC>ttT	p.F47F	PEAR1_ENST00000292357.7_Silent_p.F47F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	47	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGCCCCTTCAGCCTGCTCC	0.677000													21	100					0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13776579	13776579	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:13776579G>A	ENST00000265104.4	-	55	9446	c.9342C>T	c.(9340-9342)ttC>ttT	p.F3114F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3114	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCATCGGCTGAACCAGTCAA	0.448000									Kartagener syndrome				104	42					0	0	0.003610	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814973	54814973	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:54814973C>T	ENST00000585477.1	+	1	681	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		TCATGAATTCCTGGTGGCCCA	0.507000													9	17					0	0	0.006214	0	0
NMRK2	27231	broad.mit.edu	37	19	3941087	3941087	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:3941087C>T	ENST00000168977.2	+	7	704	c.414C>T	c.(412-414)gtC>gtT	p.V138V	NMRK2_ENST00000593949.1_Silent_p.V143V|NMRK2_ENST00000599576.1_Intron	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		ACTACACAGTCCCTGATCCCC	0.582000													48	108					0	0	0.003610	0	0
SLC4A3	6508	broad.mit.edu	37	2	220496989	220496989	+	Silent	SNP	C	C	T	rs145141849	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:220496989C>T	ENST00000358055.3	+	8	1478	c.966C>T	c.(964-966)ttC>ttT	p.F322F	SLC4A3_ENST00000373762.3_Silent_p.F349F|SLC4A3_ENST00000273063.6_Silent_p.F349F|SLC4A3_ENST00000373760.2_Silent_p.F322F|SLC4A3_ENST00000317151.3_Silent_p.F322F|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	322					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGGTGTTCGTGGAGCTGA	0.672000													41	23					0	0	0.007835	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956201	18956201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:18956201C>T	ENST00000302797.3	-	1	355	c.131G>A	c.(130-132)gGa>gAa	p.G44E	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	44					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTGCGTTTCCTGTCAGCCC	0.567000													56	296					0	0	0.003610	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:123301320G>A	ENST00000296513.2	+	3	281	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	32					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000													26	49					0	0	0.005443	0	0
TMEM239	100288797	broad.mit.edu	37	20	2796002	2796002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:2796002G>A	ENST00000554164.1	+	2	255	c.172G>A	c.(172-174)Gga>Aga	p.G58R	TMEM239_ENST00000380593.4_Missense_Mutation_p.G58R|C20orf141_ENST00000603872.1_Missense_Mutation_p.G58R|C20orf141_ENST00000380589.4_Missense_Mutation_p.G58R			Q8WW34	Q8WW34_HUMAN	transmembrane protein 239	92																	GGGGGCACTAGGACTGACAAT	0.612000													42	98					0	0	0.003214	0	0
STH	246744	broad.mit.edu	37	17	44076811	44076811	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:44076811T>G	ENST00000537309.1	+	1	196	c.166T>G	c.(166-168)Tcc>Gcc	p.S56A	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	56						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAAGTAGCTTCCCTGTTGAC	0.522000													15	40					0	0	0.002450	0	0
CAT	847	broad.mit.edu	37	11	34473726	34473726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:34473726C>T	ENST00000241052.4	+	4	541	c.452C>T	c.(451-453)cCc>cTc	p.P151L		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	151					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AATAACACCCCCATTTTCTTC	0.413000													12	50					0	0	0.000978	0	0
TYRO3	7301	broad.mit.edu	37	15	41861141	41861141	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:41861141C>T	ENST00000263798.3	+	9	1397	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	TYRO3_ENST00000559066.1_Silent_p.I346I	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	391	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGACCTGATCGTACGTGTGT	0.587000													15	30					0	0	0.002450	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031781	132031781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132031781C>T	ENST00000314099.8	-	1	425	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	126						integral to membrane				endometrium(1)|lung(1)	2						CTCCAAACTTCGTGCTTCTTC	0.403000													50	121					0	0	0.003610	0	0
OR5M11	219487	broad.mit.edu	37	11	56310405	56310405	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:56310405T>G	ENST00000528616.2	-	1	352	c.329A>C	c.(328-330)gAg>gCg	p.E110A		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CATGTAAAACTCAGTGAGTAG	0.473000													10	28					0	0	0.008291	0	0
HNF4G	3174	broad.mit.edu	37	8	76471192	76471192	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:76471192A>T	ENST00000396423.2	+	8	1137	c.1013A>T	c.(1012-1014)cAa>cTa	p.Q338L	HNF4G_ENST00000354370.1_Missense_Mutation_p.Q301L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	301					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)			ATCACGTGGCAAATGATTGAG	0.428000													30	81					0	0	0.008361	0	0
KPRP	448834	broad.mit.edu	37	1	152732591	152732591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152732591G>A	ENST00000368773.1	+	2	585	c.527G>A	c.(526-528)gGa>gAa	p.G176E	KPRP_ENST00000606109.1_Missense_Mutation_p.G176E	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	176	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTCAGGGAAGATTCTCC	0.542000													23	128					0	0	0.002780	0	0
GTPBP2	54676	broad.mit.edu	37	6	43589866	43589866	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:43589866G>A	ENST00000307126.5	-	11	1505	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	GTPBP2_ENST00000307114.7_Silent_p.I414I|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	502							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ACACCGAGCAGATGGTAGGAT	0.577000													20	64					0	0	0.008871	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324641	61324641	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:61324641T>A	ENST00000283752.5	-	6	618	c.475A>T	c.(475-477)Att>Ttt	p.I159F	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.I159F	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	159					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGGTTTTTAATTTTTTCTGCA	0.348000													29	55					0	0	0.001786	0	0
AGAP1	116987	broad.mit.edu	37	2	236706445	236706445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:236706445C>T	ENST00000409538.1	+	7	2007	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	AGAP1_ENST00000409457.1_Missense_Mutation_p.S239F|AGAP1_ENST00000304032.7_Missense_Mutation_p.S239F|AGAP1_ENST00000428334.2_Missense_Mutation_p.S78F|AGAP1_ENST00000336665.5_Missense_Mutation_p.S239F			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	239	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CAGCAGCTGTCCATAGGACCC	0.502000													162	86					0	0	0.003610	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763932	92763932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:92763932C>T	ENST00000318238.4	-	5	2569	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M451I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M451I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	451								p.M451I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCATTGATCATAGATTCAG	0.343000													15	45					0	0	0.004007	0	0
TNR	7143	broad.mit.edu	37	1	175375428	175375428	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175375428G>A	ENST00000367674.1	-	3	1131	c.423C>T	c.(421-423)atC>atT	p.I141I	TNR_ENST00000263525.2_Silent_p.I141I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	141					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I141I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCATCTCGATCCGGCTCA	0.597000													26	86					0	0	0.003954	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963960	39963960	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:39963960C>T	ENST00000599117.1	+	25	2743	c.2376C>T	c.(2374-2376)ccC>ccT	p.P792P	SUPT5H_ENST00000402194.2_Silent_p.P788P|SUPT5H_ENST00000359191.6_Silent_p.P788P|SUPT5H_ENST00000598725.1_Silent_p.P792P|SUPT5H_ENST00000432763.2_Silent_p.P792P			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	792	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACAGACACCCCTCCAGGATG	0.617000													38	70					0	0	0.002222	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390289	61390289	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:61390289G>A	ENST00000544088.1	+	0	897				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TAACATGATGGAAAGAGAAGT	0.418000													3	10					0	0	0.000248	0	0
EHMT2	10919	broad.mit.edu	37	6	31855988	31855988	+	Silent	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:31855988A>T	ENST00000395728.3	-	12	1745	c.1746T>A	c.(1744-1746)tcT>tcA	p.S582S	EHMT2_ENST00000375530.4_Silent_p.S491S|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.S548S|EHMT2_ENST00000375537.4_Silent_p.S525S			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	525					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CATTCAGCTGAGACACACAGG	0.627000													85	351					0	0	0.003610	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457365	45457365	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:45457365C>T	ENST00000548424.1	+	0	448																											GGAACAGACTCCCTGTGACAG	0.473000													16	24					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179464508	179464508	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179464508T>C	ENST00000589042.1	-	289	56344	c.56120A>G	c.(56119-56121)aAa>aGa	p.K18707R	TTN_ENST00000359218.5_Missense_Mutation_p.K9767R|TTN_ENST00000342175.6_Missense_Mutation_p.K9834R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17066R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16139R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K9642R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17066	Fibronectin type-III 35.						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)			ACCTTTAATTTTGGCCACAAT	0.383000													60	31					0	0	0.003610	0	0
MAP2	4133	broad.mit.edu	37	2	210557362	210557362	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:210557362C>T	ENST00000447185.1	+	4	456	c.454_splice	c.e4-1	p.A152_splice	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000360351.4_Silent_p.A156A|MAP2_ENST00000392194.1_Intron			P11137	MAP2_HUMAN	microtubule-associated protein 2	156					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TACTTACAGCCTCGAAGATGG	0.393000													28	18					0	0	0.004656	0	0
NETO1	81832	broad.mit.edu	37	18	70417358	70417358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:70417358C>T	ENST00000327305.6	-	9	2137	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	NETO1_ENST00000583169.1_Missense_Mutation_p.E494K|NETO1_ENST00000299430.2_Missense_Mutation_p.E493K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	494					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTCGATTTCATCTATGTCA	0.473000													11	42					0	0	0.008291	0	0
UNC13C	440279	broad.mit.edu	37	15	54825229	54825229	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:54825229T>C	ENST00000545554.1	+	25	5661	c.5661T>C	c.(5659-5661)atT>atC	p.I1887I	UNC13C_ENST00000537900.1_Silent_p.I1885I|UNC13C_ENST00000260323.11_Silent_p.I1887I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1887	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGCAGAGATTGTGTTAAGAT	0.338000													6	8					0	0	0.003080	0	0
OR5B2	390190	broad.mit.edu	37	11	58190410	58190410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58190410C>T	ENST00000302581.2	-	1	376	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGTAATTTTCCACCGTGGCC	0.517000													20	53					0	0	0.001882	0	0
USH2A	7399	broad.mit.edu	37	1	216424272	216424272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216424272G>A	ENST00000366943.2	-	12	2526	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q714*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q714*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	714	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTTGCACTGGCCTGAATTT	0.408000										HNSCC(13;0.011)			12	48					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9090467	9090467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9090467C>T	ENST00000397910.4	-	1	1551	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	450	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						GCAGTCATTTCGGACTCTTCT	0.488000													59	107					0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14819310	14819310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:14819310C>T	ENST00000380881.4	-	15	3286	c.2471G>A	c.(2470-2472)gGa>gAa	p.G824E	FREM1_ENST00000422223.2_Missense_Mutation_p.G823E|FREM1_ENST00000380880.3_Missense_Mutation_p.G823E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	823					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCCACCCTTCCGTGCAGAGG	0.453000													16	30					0	0	0.008871	0	0
OR4K13	390433	broad.mit.edu	37	14	20502084	20502084	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20502084G>A	ENST00000315693.2	-	1	835	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAGAGGTGTGAAAATTGTGT	0.333000													8	27					0	0	0.004482	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817423	23817423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23817423C>T	ENST00000354772.3	-	6	1288	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	SLC22A17_ENST00000206544.8_Missense_Mutation_p.R262Q|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R262Q|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R151Q|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	262					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	p.R262Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGCCGGTTTCGCTCAGCCAG	0.622000													38	67					0	0	0.006230	0	0
NOC4L	79050	broad.mit.edu	37	12	132636693	132636693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:132636693C>T	ENST00000330579.1	+	14	1423	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	NOC4L_ENST00000538784.1_Missense_Mutation_p.S76F	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	461					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CAGGCCCTGTCCATGCCTGAG	0.682000													11	18					0	0	0.002450	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325007	150325007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150325007C>T	ENST00000328902.5	-	3	895	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	227							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAATCTCCTTCGTTTTCCCAC	0.512000													40	111					0	0	0.007835	0	0
CSMD2	114784	broad.mit.edu	37	1	34209001	34209001	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:34209001G>A	ENST00000373381.4	-	14	2229	c.2053C>T	c.(2053-2055)Ctg>Ttg	p.L685L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	645	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGGTGCCCAGGACGGGCGCC	0.617000													26	48					0	0	0.006320	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:59283138C>T	ENST00000329328.3	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000													76	132					0	0	0.003610	0	0
SPACA3	124912	broad.mit.edu	37	17	31322522	31322522	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:31322522G>A	ENST00000580599.1	+	0	332				SPACA3_ENST00000269053.3_Missense_Mutation_p.G44S|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GAGCCAGAGTGGTGGTGGCTC	0.617000													35	66					0	0	0.003271	0	0
SLIT1	6585	broad.mit.edu	37	10	98802661	98802661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:98802661C>T	ENST00000266058.4	-	20	2406	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E721K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	721	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GAGTTACCTTCCTCACACCTG	0.642000													21	20					0	0	0.008871	0	0
FAM73A	374986	broad.mit.edu	37	1	78309071	78309071	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:78309071T>C	ENST00000370791.3	+	8	1007	c.975T>C	c.(973-975)gaT>gaC	p.D325D	FAM73A_ENST00000443751.2_Silent_p.D287D	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	325						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATCCACGGATTCCTTTGCTT	0.403000													29	49					0	0	0.002836	0	0
G2E3	55632	broad.mit.edu	37	14	31085542	31085542	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:31085542C>T	ENST00000206595.6	+	15	2077	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	G2E3_ENST00000553504.1_Silent_p.S671S|G2E3_ENST00000438909.2_Silent_p.S595S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	641	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTTGCAGTTCCATTCCTCCAG	0.348000													7	41					0	0	0.001984	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928780	35928780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:35928780G>A	ENST00000490799.1	-	13	1911	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R415C|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R520C	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	520					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGTGTGAACGAACAGTGGTG	0.413000													16	39					0	0	0.004007	0	0
H1FNT	341567	broad.mit.edu	37	12	48723794	48723794	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:48723794G>A	ENST00000335017.1	+	1	1032	c.720G>A	c.(718-720)agG>agA	p.R240R		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	240					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCAAGCCCAGGGAAGAGAAGC	0.642000													7	7					0	0	0.006214	0	0
FNDC1	84624	broad.mit.edu	37	6	159670212	159670212	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:159670212T>C	ENST00000297267.9	+	16	5032	c.4832T>C	c.(4831-4833)gTt>gCt	p.V1611A	FNDC1_ENST00000340366.6_Missense_Mutation_p.V1548A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1611						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAACGATTTGTTGGTAAATAT	0.438000													7	14					0	0	0.003080	0	0
MROH7	374977	broad.mit.edu	37	1	55118967	55118967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:55118967C>T	ENST00000414150.2	+	3	646	c.368C>T	c.(367-369)cCa>cTa	p.P123L	MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.P123L|MROH7_ENST00000339553.5_Missense_Mutation_p.P123L|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.P123L					maestro heat-like repeat family member 7																		CGCCTCTGTCCAGCCTCAAAC	0.572000													41	102					0	0	0.003610	0	0
OR4X2	119764	broad.mit.edu	37	11	48266970	48266970	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48266970C>T	ENST00000302329.3	+	1	363	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGAGATTTTCCTGCTCACTG	0.498000													30	61					0	0	0.001786	0	0
DCTN3	11258	broad.mit.edu	37	9	34616097	34616097	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:34616097G>A	ENST00000378913.2	-	4	298	c.282C>T	c.(280-282)atC>atT	p.I94I	DCTN3_ENST00000378916.4_Intron|DCTN3_ENST00000259632.7_Silent_p.I94I|DCTN3_ENST00000477738.2_Silent_p.I94I|DCTN3_ENST00000341694.2_Silent_p.I94I|DCTN3_ENST00000447983.2_3'UTR|DCTN3_ENST00000479399.1_5'UTR			O75935	DCTN3_HUMAN	dynactin 3 (p22)	94					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CCTGGGAAAGGATAAACTGCT	0.498000													11	27					0	0	0.000978	0	0
ABCB1	5243	broad.mit.edu	37	7	87214866	87214866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:87214866C>T	ENST00000265724.3	-	5	665	c.248G>A	c.(247-249)gGa>gAa	p.G83E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G83E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	83	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCTAAATTTCCTGCATTTGC	0.393000													20	30					0	0	0.002299	0	0
ACP6	51205	broad.mit.edu	37	1	147124277	147124277	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:147124277A>C	ENST00000369238.5	-	7	1303	c.856T>G	c.(856-858)Ttg>Gtg	p.L286V		NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	286					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	p.L286L(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTATGTACAAGGATGTGTCC	0.512000													29	55					0	0	0.007291	0	0
NRP1	8829	broad.mit.edu	37	10	33515181	33515181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:33515181C>T	ENST00000265371.4	-	8	1543	c.1018G>A	c.(1018-1020)Ggg>Agg	p.G340R	NRP1_ENST00000374823.5_Missense_Mutation_p.G340R|NRP1_ENST00000374867.2_Missense_Mutation_p.G340R|NRP1_ENST00000374816.3_Missense_Mutation_p.G340R|NRP1_ENST00000374821.5_Missense_Mutation_p.G340R|NRP1_ENST00000374822.4_Missense_Mutation_p.G340R|NRP1_ENST00000395995.1_Missense_Mutation_p.G340R			O14786	NRP1_HUMAN	neuropilin 1	340	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCCTGTGTCCCGACAGCCGTG	0.488000													16	23					0	0	0.004007	0	0
MON1A	84315	broad.mit.edu	37	3	49949036	49949036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49949036G>A	ENST00000417270.1	-	4	1253	c.560C>T	c.(559-561)tCc>tTc	p.S187F	MON1A_ENST00000455683.2_Intron|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.S276F			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	179							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CATAGTGCTGGAAAGTGCCTC	0.592000													23	42					0	0	0.002780	0	0
LILRA1	11024	broad.mit.edu	37	19	55105721	55105721	+	Silent	SNP	C	C	T	rs147201880	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55105721C>T	ENST00000453777.1	+	2	182	c.12C>T	c.(10-12)atC>atT	p.I4I	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.I4I	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	4					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGACCCCCATCGTCACAGTCC	0.582000													37	57					0	0	0.003610	0	0
BTBD11	121551	broad.mit.edu	37	12	107937824	107937824	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:107937824C>T	ENST00000280758.5	+	3	1926	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	BTBD11_ENST00000490090.2_Silent_p.A466A|BTBD11_ENST00000420571.2_Silent_p.A466A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	466						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCCCGAGGCCCTGTACACCC	0.577000													8	32					0	0	0.004482	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001293	13001293	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:13001293C>T	ENST00000376189.1	-	3	489	c.390G>A	c.(388-390)agG>agA	p.R130R	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Silent_p.R130R	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	130										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTTTTGTTCCTCTTGGCAT	0.498000													115	748					0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117728169	117728169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:117728169G>A	ENST00000344089.3	-	5	1656	c.971C>T	c.(970-972)tCc>tTc	p.S324F	NOS1_ENST00000338101.4_Silent_p.F305F|NOS1_ENST00000317775.6_Silent_p.F305F	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	548					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.F305L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGACCTTGAGGAAGCGTGGAC	0.557000													17	37					0	0	0.006122	0	0
QKI	9444	broad.mit.edu	37	6	163987773	163987773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:163987773C>T	ENST00000361752.3	+	7	1506	c.955C>T	c.(955-957)Cga>Tga	p.R319*	QKI_ENST00000275262.7_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000361195.2_Nonsense_Mutation_p.R311*	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	319					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TACTAAAGTTCGAAGGCACGA	0.418000													9	32					0	0	0.001368	0	0
KRT2	3849	broad.mit.edu	37	12	53045732	53045732	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:53045732G>A	ENST00000309680.3	-	1	216	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	65	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCCTCCAAGGCCAACAAGAC	0.617000													16	33					0	0	0.004007	0	0
VN1R2	317701	broad.mit.edu	37	19	53762433	53762433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:53762433C>T	ENST00000341702.3	+	1	889	c.805C>T	c.(805-807)Cat>Tat	p.H269Y		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	269					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GACATCCTTCCATGATGTTTT	0.453000													49	86					0	0	0.003610	0	0
SUSD1	64420	broad.mit.edu	37	9	114886619	114886619	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:114886619C>T	ENST00000374270.3	-	6	976	c.804G>A	c.(802-804)gaG>gaA	p.E268E	SUSD1_ENST00000374263.3_Silent_p.E268E|SUSD1_ENST00000374264.2_Silent_p.E268E|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	268	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCAAAGCCCTCTTGACAGA	0.517000													47	37					0	0	0.003610	0	0
CEP70	80321	broad.mit.edu	37	3	138251411	138251411	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:138251411A>G	ENST00000264982.3	-	8	903	c.635_splice	c.e8-1	p.L213_splice	CEP70_ENST00000542237.1_Splice_Site_p.L193_splice|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000489254.1_Splice_Site_p.L61_splice|CEP70_ENST00000484888.1_Splice_Site_p.L213_splice|CEP70_ENST00000481834.1_Splice_Site_p.L213_splice	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	213					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AGACAAAGCAACCTAGAAAAC	0.279000													86	102					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152639236	152639236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152639236G>A	ENST00000367255.5	-	86	17153	c.16552C>T	c.(16552-16554)Cgg>Tgg	p.R5518W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R5447W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R42W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5447W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5518W|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5518					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGAGAGCCGATTCTCAGCT	0.433000										HNSCC(10;0.0054)			50	113					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9057584	9057584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9057584C>T	ENST00000397910.4	-	3	30065	c.29862G>A	c.(29860-29862)atG>atA	p.M9954I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9956	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						TGGTGATGGTCATTTGTGTTG	0.498000													97	231					0	0	0.003610	0	0
EPHA8	2046	broad.mit.edu	37	1	22927217	22927217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:22927217G>A	ENST00000166244.3	+	14	2524	c.2452G>A	c.(2452-2454)Gcc>Acc	p.A818T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	818	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTTCTCCTCGGCCAGCGACGT	0.662000													21	81					0	0	0.001523	0	0
IFI44L	10964	broad.mit.edu	37	1	79102833	79102833	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:79102833C>T	ENST00000370751.4	+	6	1172	c.993C>T	c.(991-993)ctC>ctT	p.L331L	IFI44L_ENST00000342282.3_Silent_p.L73L|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	331						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTGACAATCTCTACTCTAAAA	0.343000													21	53					0	0	0.001523	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802161	33802161	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33802161G>A	ENST00000260908.7	-	4	1665	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	SLFN12L_ENST00000449046.1_Silent_p.I547I|SLFN12L_ENST00000361112.4_Silent_p.I545I	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	548						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCAAGTAGAAGATCTTTGTCA	0.383000													14	29					0	0	0.001855	0	0
NT5E	4907	broad.mit.edu	37	6	86181160	86181160	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:86181160G>A	ENST00000369646.3	+	3	817	c.768G>A	c.(766-768)agG>agA	p.R256R	NT5E_ENST00000369651.3_Intron|NT5E_ENST00000257770.3_Intron			P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	0					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GTTTCAAAAGGATTGCATGGG	0.388000													24	46					0	0	0.002780	0	0
THSD7B	80731	broad.mit.edu	37	2	138413199	138413199	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:138413199C>T	ENST00000409968.1	+	22	4252	c.4074C>T	c.(4072-4074)atC>atT	p.I1358I	THSD7B_ENST00000413152.2_Silent_p.I1330I|THSD7B_ENST00000272643.3_Silent_p.I1361I|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGACAGCATCCTGAAGCAGC	0.498000													20	8					0	0	0.002780	0	0
MAST1	22983	broad.mit.edu	37	19	12975917	12975917	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12975917G>C	ENST00000251472.4	+	14	1602	c.1563G>C	c.(1561-1563)atG>atC	p.M521I		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	521	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						TCTCCAAGATGGGGCTCATGA	0.572000													22	80					0	0	0.003330	0	0
ZNF813	126017	broad.mit.edu	37	19	53994186	53994186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:53994186C>T	ENST00000396403.4	+	4	828	c.700C>T	c.(700-702)Caa>Taa	p.Q234*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAGGAAACATCAAATAATCCA	0.383000													24	52					0	0	0.002299	0	0
LIN7A	8825	broad.mit.edu	37	12	81205335	81205335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:81205335C>T	ENST00000552864.1	-	5	813	c.611G>A	c.(610-612)cGa>cAa	p.R204Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	204					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCTGGCTGTTCGTAGCTTTTC	0.502000													13	16					0	0	0.001368	0	0
CCDC68	80323	broad.mit.edu	37	18	52596091	52596091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:52596091C>T	ENST00000591504.1	-	8	897	c.623G>A	c.(622-624)aGa>aAa	p.R208K	CCDC68_ENST00000337363.4_Missense_Mutation_p.R208K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R208K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	208										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGACAGTTTTCTTTCTAGTAG	0.363000													6	24					0	0	0.001984	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933731	62933731	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:62933731C>T	ENST00000306494.6	-	7	1070		c.e7-1		SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25						transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACTTGCAAATCTGCAGGGAAC	0.433000													14	29					0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152282971	152282971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152282971C>T	ENST00000368799.1	-	3	4426	c.4391G>A	c.(4390-4392)gGa>gAa	p.G1464E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCCTCCAGTGCT	0.567000									Ichthyosis				82	300					0	0	0.003610	0	0
NTRK2	4915	broad.mit.edu	37	9	87482207	87482207	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:87482207T>C	ENST00000304053.6	+	14	1977	c.1494T>C	c.(1492-1494)caT>caC	p.H498H	NTRK2_ENST00000376213.1_Silent_p.H482H|NTRK2_ENST00000376208.1_Silent_p.H482H|NTRK2_ENST00000277120.3_Silent_p.H498H|NTRK2_ENST00000376214.1_Silent_p.H498H|NTRK2_ENST00000323115.4_Silent_p.H482H	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	482					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GCCCACTCCATCACATCTCCA	0.453000										TSP Lung(25;0.17)			23	27					0	0	0.006320	0	0
HECTD1	25831	broad.mit.edu	37	14	31637529	31637529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:31637529G>A	ENST00000399332.1	-	10	2085	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.Q533*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	533					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATAGTTTGCTGAAATGTTTGT	0.348000													63	147					0	0	0.003610	0	0
TPD52	7163	broad.mit.edu	37	8	80992579	80992579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:80992579G>A	ENST00000520527.1	-	1	472	c.110C>T	c.(109-111)cCa>cTa	p.P37L	TPD52_ENST00000379097.3_Missense_Mutation_p.P37L|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Missense_Mutation_p.P37L|TPD52_ENST00000517427.1_Missense_Mutation_p.P37L|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.P37L|TPD52_ENST00000519303.2_Intron			P55327	TPD52_HUMAN	tumor protein D52	37					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TGATCCGGGTGGAGATGAATT	0.403000													25	28					0	0	0.006320	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749330	8749330	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:8749330G>A	ENST00000276282.6	-	1	1825	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	413	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCCCCATCAGGAGCAGCTTGA	0.622000													23	45					0	0	0.003330	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128850516	128850516	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:128850516G>A	ENST00000310343.9	-	17	1865	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	ARHGAP32_ENST00000392657.3_Silent_p.I273I|ARHGAP32_ENST00000524655.1_Silent_p.I548I|ARHGAP32_ENST00000527272.1_Silent_p.I273I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	622					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCTACTTCGATATATTTAT	0.418000													41	29					0	0	0.002222	0	0
SPG11	80208	broad.mit.edu	37	15	44898230	44898230	+	Silent	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:44898230A>T	ENST00000261866.7	-	20	3529	c.3513T>A	c.(3511-3513)gcT>gcA	p.A1171A	SPG11_ENST00000558319.1_Silent_p.A1171A|SPG11_ENST00000427534.2_Silent_p.A1171A|SPG11_ENST00000535302.2_Silent_p.A1171A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1171					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TACCTCCTATAGCTAGTGTGT	0.373000													13	31					0	0	0.004990	0	0
SP140	11262	broad.mit.edu	37	2	231103041	231103041	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:231103041G>A	ENST00000392045.3	+	3	465	c.351G>A	c.(349-351)agG>agA	p.R117R	SP140_ENST00000417495.3_Silent_p.R117R|SP140_ENST00000420434.3_Silent_p.R117R|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000486687.2_Silent_p.R117R|SP140_ENST00000373645.3_Silent_p.R117R|SP140_ENST00000350136.5_Silent_p.R97R|SP140_ENST00000343805.6_Silent_p.R117R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	117	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTTCAGCAGGATTAACCTGA	0.433000													39	19					0	0	0.006999	0	0
MUC17	140453	broad.mit.edu	37	7	100679927	100679927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100679927C>T	ENST00000306151.4	+	3	5294	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1744	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAACTCAACTCCTAGTGAAGG	0.493000													100	245					0	0	0.003610	0	0
ZNF648	127665	broad.mit.edu	37	1	182026903	182026903	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:182026903G>A	ENST00000339948.3	-	2	450	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGAGTCAGAGAATTTCTCTT	0.567000													22	93					0	0	0.001523	0	0
MYCBP2	23077	broad.mit.edu	37	13	77655574	77655574	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:77655574G>A	ENST00000407578.2	-	65	11672	c.11406C>T	c.(11404-11406)tcC>tcT	p.S3802S	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Silent_p.S3764S|MYCBP2_ENST00000544440.2_Silent_p.S3764S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3764	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAGATCTCGGGAATTGTCCA	0.393000													46	45					0	0	0.003610	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757235	56757235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:56757235C>T	ENST00000326855.2	+	1	889	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CACAGTTATTCCCATGTTAAA	0.318000													18	33					0	0	0.008871	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473085	22473085	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:22473085C>T	ENST00000557788.2	-	0	185																											CCAGCCCCTTCCCTGGGGGCT	0.572000													25	162					0	0	0.002780	0	0
HPCAL4	51440	broad.mit.edu	37	1	40149819	40149819	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:40149819G>A	ENST00000372844.3	-	3	559	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	56	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGCCGTAGGGGAAGAACTGAG	0.692000													7	15					0	0	0.001984	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815664	106815664	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:106815664G>A	ENST00000407775.2	+	8	3604	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.G986G|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.G849G|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.G986G|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1118					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCAGTGGGAAATATTGCC	0.428000													5	15					0	0	0.000602	0	0
CA11	770	broad.mit.edu	37	19	49142225	49142225	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:49142225A>C	ENST00000084798.4	-	8	1560	c.881T>G	c.(880-882)tTg>tGg	p.L294W	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	294						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		CCTGTGGGCCAAGGGCTGCAG	0.652000													10	21					0	0	0.006214	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695625	153695625	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:153695625C>T	ENST00000369682.3	+	19	3427	c.3252C>T	c.(3250-3252)atC>atT	p.I1084I		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1084	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCCGGCATCTTTCTTGGGC	0.632000													42	19					0	0	0.003214	0	0
ISL2	64843	broad.mit.edu	37	15	76630250	76630250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:76630250G>A	ENST00000290759.4	+	2	350	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	64	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GTACCTGGACGAGACGTGCAC	0.667000													14	35					0	0	0.004990	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36226076	36226076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:36226076G>A	ENST00000258840.6	-	7	976	c.586C>T	c.(586-588)Cca>Tca	p.P196S	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P196S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P196S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P196S|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	196					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTGATTGTGGGGGGACAAGA	0.313000													24	64					0	0	0.002445	0	0
ALPK2	115701	broad.mit.edu	37	18	56205126	56205126	+	Missense_Mutation	SNP	G	G	A	rs115584025	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:56205126G>A	ENST00000361673.3	-	5	2506	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	765							ATP binding|protein serine/threonine kinase activity	p.R765S(1)|p.R131S(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAGTCAGCACGAGCATCCTTG	0.517000													41	94					0	0	0.006230	0	0
DENND3	22898	broad.mit.edu	37	8	142202548	142202548	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:142202548G>A	ENST00000519811.1	+	21	3568	c.3498_splice	c.e21+1	p.E1166_splice	DENND3_ENST00000424248.1_Splice_Site_p.E1034_splice|DENND3_ENST00000523308.1_Splice_Site_p.E136_splice|DENND3_ENST00000262585.2_Splice_Site_p.E1086_splice			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1086										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTTCCTGAGGTATCCCAGC	0.582000													14	38					0	0	0.003163	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460333	107460333	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:107460333T>C	ENST00000409382.3	-	2	711	c.101A>G	c.(100-102)aAc>aGc	p.N34S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.N34S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.N34S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	34					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCAGCGGGGTTGCTGTCGGT	0.562000													32	17					0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9089865	9089865	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9089865G>A	ENST00000397910.4	-	1	2153	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	650	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						CTGGAGACACGGAGACTGGGA	0.552000													40	102					0	0	0.003610	0	0
VWA2	340706	broad.mit.edu	37	10	116049073	116049073	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:116049073C>T	ENST00000603594.1	+	12	2268	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	VWA2_ENST00000392982.3_Silent_p.A649A	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	649	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGGATGCAGCCGTTCCTGCCC	0.627000													10	10					0	0	0.008291	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871471	20871471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:20871471G>A	ENST00000324344.3	-	3	937	c.652C>T	c.(652-654)Cct>Tct	p.P218S	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P218S|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	218	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AATACCGGAGGATTGTTCTGG	0.498000													60	111					0	0	0.003610	0	0
ST5	6764	broad.mit.edu	37	11	8752657	8752657	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:8752657G>A	ENST00000534127.1	-	6	565	c.180C>T	c.(178-180)caC>caT	p.H60H	ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Silent_p.H60H|ST5_ENST00000313726.6_Silent_p.H60H|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	60	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGGAGCTGGAGTGGCTGGGGT	0.612000													22	36					0	0	0.001523	0	0
TRERF1	55809	broad.mit.edu	37	6	42224802	42224802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:42224802G>A	ENST00000541110.1	-	11	3003	c.2435C>T	c.(2434-2436)cCt>cTt	p.P812L	TRERF1_ENST00000372917.4_Missense_Mutation_p.P709L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P709L|TRERF1_ENST00000340840.2_Missense_Mutation_p.P709L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P792L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	792	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGGAGTTCAGGGATTTCTGC	0.478000													70	70					0	0	0.003610	0	0
OVCH2	341277	broad.mit.edu	37	11	7721858	7721858	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:7721858C>T	ENST00000454689.1	-	0	885				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TGGATGTGTTCGTGGATCCAG	0.493000													10	20					0	0	0.008291	0	0
EIF3A	8661	broad.mit.edu	37	10	120816534	120816534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:120816534G>A	ENST00000369144.3	-	13	2123	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	EIF3A_ENST00000541549.1_Missense_Mutation_p.P632S|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	666	Glu-rich.|Interaction with EIF3B.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATAAAATCTGGATCCAATTCC	0.343000													17	9					0	0	0.004990	0	0
ACAA1	30	broad.mit.edu	37	3	38167134	38167134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38167134G>A	ENST00000333167.8	-	11	1293	c.1121C>T	c.(1120-1122)gCc>gTc	p.A374V	ACAA1_ENST00000450296.1_Missense_Mutation_p.A333V|ACAA1_ENST00000301810.7_Missense_Mutation_p.A281V|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	374					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GTGCCCTAAGGCCACTGCACC	0.617000													16	36					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	216465577	216465577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216465577G>A	ENST00000366943.2	-	10	2166	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S	USH2A_ENST00000307340.3_Missense_Mutation_p.P594S|USH2A_ENST00000366942.3_Missense_Mutation_p.P594S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	594	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCAAAAGGAAATGGGTCT	0.433000										HNSCC(13;0.011)			25	129					0	0	0.005443	0	0
FRAS1	80144	broad.mit.edu	37	4	79399128	79399128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:79399128G>A	ENST00000264895.6	+	55	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2666	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACGATACCGAGGATGAACC	0.458000													7	19					0	0	0.001984	0	0
SLC6A9	6536	broad.mit.edu	37	1	44475699	44475699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:44475699G>A	ENST00000372310.3	-	4	422	c.257C>T	c.(256-258)tCc>tTc	p.S86F	SLC6A9_ENST00000372307.3_Missense_Mutation_p.S21F|SLC6A9_ENST00000372306.3_Missense_Mutation_p.S86F|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S105F|SLC6A9_ENST00000537678.1_Missense_Mutation_p.S21F|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000360584.2_Missense_Mutation_p.S159F|SLC6A9_ENST00000475075.2_Intron	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	159						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTGGCCGAAGGAGAGCTCCAT	0.597000													36	73					0	0	0.002836	0	0
RGS6	9628	broad.mit.edu	37	14	72936762	72936762	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:72936762C>T	ENST00000553530.1	+	8	714	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000554782.1_Silent_p.F30F|RGS6_ENST00000556437.1_Silent_p.F169F|RGS6_ENST00000434263.2_Silent_p.F100F|RGS6_ENST00000404301.2_Silent_p.F169F|RGS6_ENST00000555571.1_Silent_p.F169F|RGS6_ENST00000343854.6_Silent_p.F169F|RGS6_ENST00000406236.4_Silent_p.F169F|RGS6_ENST00000355512.6_Silent_p.F169F|RGS6_ENST00000553525.1_Silent_p.F169F|RGS6_ENST00000402788.2_Silent_p.F169F|RGS6_ENST00000407322.4_Silent_p.F169F	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	169					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGTGGGAATTCATCTTTATGC	0.413000													16	25					0	0	0.006122	0	0
CNGA1	1259	broad.mit.edu	37	4	47953412	47953412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:47953412G>A	ENST00000402813.3	-	4	543	c.401C>T	c.(400-402)tCc>tTc	p.S134F	CNGA1_ENST00000544810.1_Missense_Mutation_p.S65F|CNGA1_ENST00000420489.2_Missense_Mutation_p.S65F|CNGA1_ENST00000514170.1_Missense_Mutation_p.S65F|CNGA1_ENST00000358519.4_Missense_Mutation_p.S65F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	65					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATAACTAAAGGAACCCCTTGC	0.443000													5	46					0	0	0.001168	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283465	33283465	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:33283465G>C	ENST00000431845.2	-	2	1380	c.1229C>G	c.(1228-1230)tCc>tGc	p.S410C	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S410C	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAGGGTGGGAGGGGGCATA	0.597000													49	156					0	0	0.003610	0	0
UNC13A	23025	broad.mit.edu	37	19	17728550	17728550	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:17728550G>A	ENST00000428389.2	-	42	4782	c.4783C>T	c.(4783-4785)Ctg>Ttg	p.L1595L	UNC13A_ENST00000550896.1_Silent_p.L1480L|UNC13A_ENST00000519716.2_Silent_p.L1507L|UNC13A_ENST00000252773.7_Silent_p.L1507L|UNC13A_ENST00000551649.1_Silent_p.L1507L|UNC13A_ENST00000552293.1_Silent_p.L1482L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1507	C2 3.				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						TTGATTAGCAGGTCGGTGGCC	0.637000													34	107					0	0	0.004289	0	0
KLHL8	57563	broad.mit.edu	37	4	88116516	88116516	+	Missense_Mutation	SNP	C	C	T	rs144616595		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:88116516C>T	ENST00000273963.5	-	2	517	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	KLHL8_ENST00000498875.2_Missense_Mutation_p.R59Q|KLHL8_ENST00000425278.2_Missense_Mutation_p.R59Q|KLHL8_ENST00000512111.1_Missense_Mutation_p.R59Q|KLHL8_ENST00000545252.1_5'UTR	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	59										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTCATAAAATCGAAGAAGAGA	0.368000													15	44					0	0	0.004007	0	0
OR2M3	127062	broad.mit.edu	37	1	248366969	248366969	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248366969C>T	ENST00000456743.1	+	1	638	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			AGATTCTTTTCATCTGCTGTA	0.443000													70	300					0	0	0.003610	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607252	47607252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47607252C>T	ENST00000371891.3	+	3	378	c.347C>T	c.(346-348)tCc>tTc	p.S116F	CYP4A22_ENST00000371890.3_Missense_Mutation_p.S116F|CYP4A22_ENST00000294337.3_Missense_Mutation_p.S116F|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	116						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACCCGAAATCCCATGGATCC	0.458000													17	55					0	0	0.006122	0	0
FAM174B	400451	broad.mit.edu	37	15	93277250	93277250	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:93277250G>A	ENST00000556424.1	-	0	78																											GAGGTACCCCGGAATCGCAGC	0.587000													16	21					0	0	0.007413	0	0
CSF2RA	1438	broad.mit.edu	37	X	1424365	1424365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:1424365C>T	ENST00000381524.3	+	12	1256	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	CSF2RA_ENST00000501036.2_Missense_Mutation_p.P224L|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.P357L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R325C|CSF2RA_ENST00000432318.2_Missense_Mutation_p.P357L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.P357L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R325C|CSF2RA_ENST00000417535.2_Missense_Mutation_p.P391L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R225C			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	357						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)	CGGCTGTTCCCGCCAGTTCCA	0.547000													41	66					0	0	0.003610	0	0
EYA4	2070	broad.mit.edu	37	6	133802735	133802735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:133802735G>A	ENST00000367895.5	+	12	1569	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	EYA4_ENST00000525849.1_Missense_Mutation_p.E346K|EYA4_ENST00000355286.6_Missense_Mutation_p.E346K|EYA4_ENST00000452339.2_Missense_Mutation_p.E315K|EYA4_ENST00000430974.2_Missense_Mutation_p.E321K|EYA4_ENST00000355167.3_Missense_Mutation_p.E369K|EYA4_ENST00000531901.1_Missense_Mutation_p.E375K|EYA4_ENST00000431403.2_Missense_Mutation_p.E369K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	369					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAGTGACCTGGAGGTATGCCT	0.398000													28	46					0	0	0.007291	0	0
ANKRD55	79722	broad.mit.edu	37	5	55528733	55528733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:55528733C>T	ENST00000341048.4	-	2	159	c.8G>A	c.(7-9)aGa>aAa	p.R3K	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R3K|ANKRD55_ENST00000513241.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	2										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGTAGCCTGTCTCATCATTTA	0.428000													4	40					0	0	0.000248	0	0
TIMD4	91937	broad.mit.edu	37	5	156378700	156378700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:156378700G>A	ENST00000274532.2	-	3	558	c.502C>T	c.(502-504)Cca>Tca	p.P168S	TIMD4_ENST00000407087.3_Missense_Mutation_p.P168S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	168	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGTTGTTGGAAGTGCAGCT	0.527000													17	565					0	0	0.007413	0	0
OR2J3	442186	broad.mit.edu	37	6	29079884	29079884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29079884G>A	ENST00000377169.1	+	1	217	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTCATTTCTGGATCTCTGCTA	0.463000													69	172					0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121259887	121259887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:121259887G>A	ENST00000297848.3	+	21	2785	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E744K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E839K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	839	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGGGTGTCCGAGGAATGGTA	0.473000													19	50					0	0	0.008871	0	0
VPS13D	55187	broad.mit.edu	37	1	12337809	12337809	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:12337809C>T	ENST00000358136.3	+	19	4294	c.4164C>T	c.(4162-4164)atC>atT	p.I1388I	VPS13D_ENST00000356315.4_Silent_p.I1388I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1388					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGTTTCTATCCCTCGGAAGC	0.438000													14	44					0	0	0.001855	0	0
GNA15	2769	broad.mit.edu	37	19	3151735	3151735	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:3151735G>A	ENST00000262958.3	+	4	774	c.516G>A	c.(514-516)gaG>gaA	p.E172E	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	172					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCATCACCGAGGAGGGCTACG	0.627000													34	97					0	0	0.005524	0	0
TRPV5	56302	broad.mit.edu	37	7	142625961	142625961	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142625961C>T	ENST00000265310.1	-	6	935	c.586_splice	c.e6-1	p.G196_splice	TRPV5_ENST00000442623.1_Splice_Site_p.G196_splice	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	196					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TACTGTGTTTCCTGGGGAGGA	0.552000													32	72					0	0	0.002836	0	0
OPN4	94233	broad.mit.edu	37	10	88419807	88419807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:88419807C>T	ENST00000372071.2	+	7	1216	c.989C>T	c.(988-990)gCc>gTc	p.A330V	OPN4_ENST00000241891.5_Missense_Mutation_p.A319V	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	319					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCCTGGTGGCCTTTGCTGGG	0.622000													26	28					0	0	0.002836	0	0
HEATR1	55127	broad.mit.edu	37	1	236735812	236735812	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:236735812A>G	ENST00000366582.3	-	26	3720	c.3606T>C	c.(3604-3606)tcT>tcC	p.S1202S	HEATR1_ENST00000366581.2_Silent_p.S1121S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1202					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTGCCAGTAAGAACCTCCAA	0.383000													31	63					0	0	0.002445	0	0
ZNF750	79755	broad.mit.edu	37	17	80788365	80788365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:80788365C>T	ENST00000269394.3	-	3	2658	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A210T|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	609						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGGTGGGGCCCCGTCACCG	0.677000													25	28					0	0	0.005443	0	0
ZNF536	9745	broad.mit.edu	37	19	30936591	30936591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:30936591G>A	ENST00000355537.3	+	2	2269	c.2122G>A	c.(2122-2124)Ggg>Agg	p.G708R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G708W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCCCAGACCGGGAGTGCCCA	0.677000													11	30					0	0	0.001368	0	0
POF1B	79983	broad.mit.edu	37	X	84562249	84562249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:84562249C>T	ENST00000262753.4	-	11	1229	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	POF1B_ENST00000373145.3_Missense_Mutation_p.D362N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	362							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AATGATAAATCTTTCTCAAGT	0.328000													12	8					0	0	0.000978	0	0
TMC5	79838	broad.mit.edu	37	16	19451378	19451378	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19451378G>A	ENST00000396229.2	+	3	767	c.18G>A	c.(16-18)agG>agA	p.R6R	TMC5_ENST00000541464.1_Silent_p.R6R|TMC5_ENST00000542583.2_Silent_p.R6R|TMC5_ENST00000381414.4_Silent_p.R6R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTACTACAGGAATAACTGGT	0.448000													21	64					0	0	0.002780	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922587	43922587	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:43922587G>A	ENST00000329196.5	+	1	332	c.315G>A	c.(313-315)acG>acA	p.T105T	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	105						integral to membrane	aspartic-type endopeptidase activity										GCTTCCACACGAAAGGCTGGC	0.667000													25	37					0	0	0.005443	0	0
PDZD8	118987	broad.mit.edu	37	10	119044225	119044225	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:119044225C>T	ENST00000334464.5	-	5	2258	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	673					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GACGGTCGTCCGAACTGTCCT	0.428000													28	31					0	0	0.008361	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370128	35370128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:35370128G>A	ENST00000373347.1	-	3	1125	c.857C>T	c.(856-858)cCc>cTc	p.P286L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P286L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	286					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAGGCAGAAGGGACCACCAGG	0.662000													43	53					0	0	0.002852	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24255246	24255246	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24255246G>A	ENST00000538205.1	+	8	988	c.441G>A	c.(439-441)ctG>ctA	p.L147L	ADAMDEC1_ENST00000256412.4_Silent_p.L226L|ADAMDEC1_ENST00000522298.1_Silent_p.L147L|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	226					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATTTGGTGCTGGATAATGCCT	0.353000													13	27					0	0	0.003163	0	0
OR2B2	81697	broad.mit.edu	37	6	27879209	27879209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:27879209C>T	ENST00000303324.2	-	1	965	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCTTCCTTTACCTCTTTGTTC	0.388000													17	104					0	0	0.004990	0	0
ASB2	51676	broad.mit.edu	37	14	94413746	94413746	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94413746T>C	ENST00000555019.1	-	7	1431	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.N286S	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	286					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCGTCCTTGTTGGTCTTGTT	0.632000													21	28					0	0	0.002780	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20295729G>A	ENST00000315947.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR4N2_ENST00000568211.1_Missense_Mutation_p.G41E	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000													70	264					0	0	0.003610	0	0
LMX1B	4010	broad.mit.edu	37	9	129453146	129453146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:129453146G>A	ENST00000355497.5	+	3	365	c.358G>A	c.(358-360)Gag>Aag	p.E120K	LMX1B_ENST00000425646.2_Missense_Mutation_p.E97K|LMX1B_ENST00000526117.1_Missense_Mutation_p.E120K|LMX1B_ENST00000561065.1_Missense_Mutation_p.E97K|LMX1B_ENST00000373474.4_Missense_Mutation_p.E120K	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	97	LIM zinc-binding 2.		C -> S (in NPS).		dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGGCTGCATGGAGAAGATCGC	0.657000									Nail-Patella Syndrome				4	6					0	0	0.000602	0	0
NTNG1	22854	broad.mit.edu	37	1	107867320	107867320	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:107867320C>T	ENST00000370067.1	+	3	1290	c.663C>T	c.(661-663)atC>atT	p.I221I	NTNG1_ENST00000370071.2_Silent_p.I221I|NTNG1_ENST00000370072.3_Silent_p.I221I|NTNG1_ENST00000370068.1_Silent_p.I221I|NTNG1_ENST00000370070.2_Silent_p.I221I|NTNG1_ENST00000370073.2_Silent_p.I221I|NTNG1_ENST00000370074.4_Silent_p.I221I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Silent_p.I221I|NTNG1_ENST00000370061.3_Silent_p.I221I|NTNG1_ENST00000370065.1_Silent_p.I221I|NTNG1_ENST00000370066.1_Silent_p.I221I			Q9Y2I2	NTNG1_HUMAN	netrin G1	221	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCAAAATAATCCACTTTGAAA	0.423000													17	53					0	0	0.004990	0	0
RNF111	54778	broad.mit.edu	37	15	59323125	59323125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:59323125G>A	ENST00000348370.4	+	2	537	c.104G>A	c.(103-105)gGg>gAg	p.G35E	RNF111_ENST00000561186.1_Missense_Mutation_p.G35E|RNF111_ENST00000434298.1_Missense_Mutation_p.G35E|RNF111_ENST00000559209.1_Missense_Mutation_p.G35E|RNF111_ENST00000557998.1_Missense_Mutation_p.G35E	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	35					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGTCTGAAAGGGATCCTTTTG	0.438000													16	38					0	0	0.003163	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551732	24551732	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:24551732C>T	ENST00000535378.1	-	21	3585	c.2943G>A	c.(2941-2943)agG>agA	p.R981R	KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Silent_p.R945R|KIAA0319_ENST00000543707.1_Silent_p.R990R|KIAA0319_ENST00000378214.3_Silent_p.R990R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	990					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTGTTTTTTTCCTGATTTTAG	0.398000													20	55					0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237777871	237777871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:237777871G>A	ENST00000366574.2	+	37	5760	c.5443G>A	c.(5443-5445)Gaa>Aaa	p.E1815K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1813K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1799K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1815	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGACTACTGAATTCCTCTT	0.483000													158	243					0	0	0.003610	0	0
TSPAN18	90139	broad.mit.edu	37	11	44939538	44939538	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:44939538C>T	ENST00000340160.3	+	5	513	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	TSPAN18_ENST00000520358.2_Silent_p.L92L	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	92						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CCTGTTCATCCTGATCATCTT	0.572000													15	71					0	0	0.004990	0	0
L1TD1	54596	broad.mit.edu	37	1	62672782	62672782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:62672782C>T	ENST00000498273.1	+	3	777	c.482C>T	c.(481-483)cCc>cTc	p.P161L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	161										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aagaaattaccccagggtgaa	0.333000													5	14					0	0	0.000602	0	0
CFHR5	81494	broad.mit.edu	37	1	196952101	196952101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196952101G>A	ENST00000367414.5	+	2	273	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CFHR5_ENST00000256785.4_Missense_Mutation_p.E49K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	49	Sushi 1.				complement activation, alternative pathway	extracellular region		p.E49K(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCCTACAGGGGAAGTTTTCTA	0.373000													48	80					0	0	0.003610	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061552	13061552	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:13061552C>T	ENST00000014914.5	+	2	1259	c.369C>T	c.(367-369)gtC>gtT	p.V123V	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	123						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCAAGCTCGTCCGGGGGAGGA	0.557000													68	146					0	0	0.003610	0	0
FTCD	10841	broad.mit.edu	37	21	47566215	47566215	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:47566215G>A	ENST00000397748.1	-	8	976	c.933C>T	c.(931-933)tcC>tcT	p.S311S	FTCD_ENST00000355384.2_Silent_p.S311S|FTCD_ENST00000359679.2_Silent_p.S311S|FTCD_ENST00000397743.1_Silent_p.S311S|FTCD_ENST00000397746.3_Silent_p.S311S|FTCD_ENST00000291670.5_Silent_p.S311S|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	311	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGGGGCACAGGGAGTCCAGGC	0.687000													6	10					0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240601433	240601433	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240601433C>T	ENST00000319653.9	+	16	5213	c.4983C>T	c.(4981-4983)ttC>ttT	p.F1661F	FMN2_ENST00000545751.1_Silent_p.F257F	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1661	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAATGCTTTCTTCAGTATCT	0.388000													36	142					0	0	0.002836	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472504	47472504	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:47472504C>T	ENST00000266581.4	-	2	748	c.282G>A	c.(280-282)aaG>aaA	p.K94K	AMIGO2_ENST00000429635.1_Silent_p.K94K|AMIGO2_ENST00000550413.1_Silent_p.K94K|AMIGO2_ENST00000321382.3_Silent_p.K94K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	94					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGGTGTTCAGCTTTGCAAACG	0.428000													27	60					0	0	0.005443	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32632738	32632738	+	Silent	SNP	G	G	A	rs41556424		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:32632738G>A	ENST00000399084.1	-	3	394	c.216C>T	c.(214-216)ttC>ttT	p.F72F	HLA-DQB1_ENST00000374943.4_Silent_p.F72F|HLA-DQB1_ENST00000434651.2_Silent_p.F72F|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Silent_p.F72F			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	72	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGTCGCTGTCGAAGCGCGCGT	0.627000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				44	68					0	0	0.002852	0	0
COL19A1	1310	broad.mit.edu	37	6	70778345	70778345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:70778345C>T	ENST00000322773.4	+	15	1303	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P23S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	401	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P401T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCCCAAGGTCCACCTGGAAA	0.438000													19	41					0	0	0.002780	0	0
PLCE1	51196	broad.mit.edu	37	10	95791085	95791085	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:95791085C>T	ENST00000260766.3	+	2	916	c.282C>T	c.(280-282)atC>atT	p.I94I	PLCE1_ENST00000371380.2_Silent_p.I94I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	94					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGGAGAAAATCATGCCAGATT	0.378000													23	21					0	0	0.002780	0	0
NEB	4703	broad.mit.edu	37	2	152410459	152410459	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:152410459C>T	ENST00000397345.3	-	126	19711	c.19509G>A	c.(19507-19509)aaG>aaA	p.K6503K	NEB_ENST00000603639.1_Silent_p.K6503K|NEB_ENST00000172853.10_Silent_p.K4802K|NEB_ENST00000604864.1_Silent_p.K6503K|NEB_ENST00000409198.1_Silent_p.K4802K|NEB_ENST00000427231.2_Silent_p.K6503K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4802	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGGGAATCCTTGGCAGTAA	0.453000													86	53					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21229895	21229895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21229895C>T	ENST00000233242.1	-	26	9972	c.9845G>A	c.(9844-9846)aGt>aAt	p.S3282N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3282					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGGAGAAACTAGGCATGCT	0.468000													411	190					0	0	0.003610	0	0
BIN2	51411	broad.mit.edu	37	12	51695812	51695812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:51695812C>T	ENST00000267012.4	-	5	461	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	BIN2_ENST00000604560.1_Missense_Mutation_p.E107K|BIN2_ENST00000544402.1_Missense_Mutation_p.E108K|BIN2_ENST00000452142.2_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	134	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						ACCTTAATTTCACTGAACTGG	0.418000													9	27					0	0	0.004482	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131798931	131798931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131798931G>A	ENST00000392953.3	+	9	1752	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.M411I|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.M351I|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.M411I|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.M340I	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	411	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCAGAAGATGATTGACATCT	0.587000													38	22					0	0	0.004878	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745814	23745814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23745814G>A	ENST00000357460.5	-	2	787	c.623C>T	c.(622-624)cCt>cTt	p.P208L	HOMEZ_ENST00000561013.1_Missense_Mutation_p.P210L|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P210L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	208						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCCACTGCCAGGTGTCATCAG	0.532000													31	80					0	0	0.008361	0	0
TRIP13	9319	broad.mit.edu	37	5	916028	916028	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:916028G>A	ENST00000166345.3	+	12	1499	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	381					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GGAAGAGCGAGGGCCTCAGCG	0.542000													113	71					0	0	0.003610	0	0
OR51E1	143503	broad.mit.edu	37	11	4673853	4673853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4673853C>T	ENST00000396952.5	+	2	747	c.97C>T	c.(97-99)Cca>Tca	p.P33S	OR51E1_ENST00000530215.1_Missense_Mutation_p.P33S	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGGCCTTCCCATTGTGCTC	0.468000													46	69					0	0	0.003610	0	0
SLC13A2	9058	broad.mit.edu	37	17	26823577	26823577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:26823577C>T	ENST00000444914.3	+	11	2147	c.1727C>T	c.(1726-1728)tCt>tTt	p.S576F	SLC13A2_ENST00000545060.1_Missense_Mutation_p.S484F|SLC13A2_ENST00000537681.1_Missense_Mutation_p.S456F|SLC13A2_ENST00000314669.5_Missense_Mutation_p.S527F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	527						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATCGTCTTCTCTTTCGGGGAC	0.557000													22	42					0	0	0.003954	0	0
KCNK1	3775	broad.mit.edu	37	1	233807177	233807177	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:233807177C>T	ENST00000366621.3	+	3	1080	c.912C>T	c.(910-912)atC>atT	p.I304I	KCNK1_ENST00000366620.1_Silent_p.I188I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	304						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTCCTCGATCACAGACCAGG	0.488000													38	51					0	0	0.004289	0	0
KLK6	5653	broad.mit.edu	37	19	51465128	51465128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51465128G>A	ENST00000376851.3	-	5	893	c.454C>T	c.(454-456)Cct>Tct	p.P152S	KLK6_ENST00000391808.1_Missense_Mutation_p.P45S|KLK6_ENST00000310157.2_Missense_Mutation_p.P152S|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.P152S|KLK6_ENST00000456750.2_Missense_Mutation_p.P45S|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	152	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATGGTGTCAGGGAAATCACCT	0.587000													20	43					0	0	0.002299	0	0
LRP2	4036	broad.mit.edu	37	2	170029621	170029621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:170029621C>T	ENST00000263816.3	-	57	11413	c.11128G>A	c.(11128-11130)Gat>Aat	p.D3710N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3710	LDL-receptor class A 30.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTTGCTCATCACTGTTGTCC	0.498000													36	18					0	0	0.008740	0	0
USP49	25862	broad.mit.edu	37	6	41774178	41774178	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41774178T>C	ENST00000394253.3	-	3	873	c.544A>G	c.(544-546)Aag>Gag	p.K182E	USP49_ENST00000297229.2_Missense_Mutation_p.K182E|USP49_ENST00000373010.1_Missense_Mutation_p.K182E|USP49_ENST00000373006.1_Missense_Mutation_p.K182E|USP49_ENST00000373009.3_Missense_Mutation_p.K182E			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	182					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCTCCTCCTTCTTGCGCTCC	0.726000													20	22					0	0	0.008871	0	0
CPD	1362	broad.mit.edu	37	17	28783503	28783503	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:28783503A>T	ENST00000225719.4	+	17	3533	c.3457A>T	c.(3457-3459)Atg>Ttg	p.M1153L	CPD_ENST00000543464.2_Missense_Mutation_p.M906L|CPD_ENST00000584051.1_3'UTR	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1153	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGGAGGAGTAATGCGTGGAGC	0.438000													28	32					0	0	0.002096	0	0
DNAH8	1769	broad.mit.edu	37	6	38919147	38919147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38919147C>T	ENST00000359357.3	+	80	11905	c.11651C>T	c.(11650-11652)tCt>tTt	p.S3884F	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S4101F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3848F					dynein, axonemal, heavy chain 8									p.S3884Y(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTGCAGATTCTTTGGAGGAG	0.398000													110	132					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179590133	179590133	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179590133C>G	ENST00000589042.1	-	71	21022	c.20798G>C	c.(20797-20799)gGt>gCt	p.G6933A	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G6616A|TTN_ENST00000342992.6_Missense_Mutation_p.G5689A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6616	Ig-like 51.						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)			CCTCATTCCACCATCATTCTT	0.413000													12	6					0	0	0.003163	0	0
GSDMB	55876	broad.mit.edu	37	17	38062490	38062490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38062490C>T	ENST00000394175.2	-	5	919	c.696G>A	c.(694-696)atG>atA	p.M232I	GSDMB_ENST00000520542.1_Missense_Mutation_p.M245I|GSDMB_ENST00000418519.1_Missense_Mutation_p.M254I|GSDMB_ENST00000394179.1_Missense_Mutation_p.M249I|GSDMB_ENST00000309481.7_Missense_Mutation_p.M241I|GSDMB_ENST00000360317.3_Missense_Mutation_p.M254I	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	249						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ACTTCTCCTTCATGTTTCTGG	0.498000													20	56					0	0	0.002780	0	0
PTPRE	5791	broad.mit.edu	37	10	129868693	129868693	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:129868693C>T	ENST00000254667.3	+	14	1551	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	PTPRE_ENST00000419012.2_Silent_p.I424I|PTPRE_ENST00000306042.5_Silent_p.I366I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	424					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCGACAAGATCGGGCTGGAGG	0.567000													4	20					0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	3266994	3266994	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:3266994G>A	ENST00000602557.1	-	14	2253	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	CSMD1_ENST00000400186.3_Silent_p.I566I|CSMD1_ENST00000542608.1_Silent_p.I565I|CSMD1_ENST00000537824.1_Silent_p.I565I|CSMD1_ENST00000520002.1_Silent_p.I566I|CSMD1_ENST00000539096.1_Silent_p.I565I|CSMD1_ENST00000602723.1_Silent_p.I566I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	566	Sushi 3.					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)		GCTGACAGGTGATAACTCTCT	0.557000													6	13					0	0	0.001984	0	0
CACNA1C	775	broad.mit.edu	37	12	2721185	2721185	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:2721185C>T	ENST00000480911.1	+	29	3859	c.3834C>T	c.(3832-3834)ggC>ggT	p.G1278G	CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000327702.7_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	0					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAAGGTAGGCCTCTGAGAAA	0.527000													12	18					0	0	0.002450	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005789	74005789	+	Silent	SNP	G	G	A	rs143690709		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:74005789G>A	ENST00000358602.4	-	15	2660	c.2544C>T	c.(2542-2544)atC>atT	p.I848I	ANKRD17_ENST00000509867.2_Silent_p.I735I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	848					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGCTCCTCGATCTTCTCCT	0.418000													66	139					0	0	0.003610	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911876	158911876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158911876C>T	ENST00000368140.1	+	5	934	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PYHIN1_ENST00000392254.2_Missense_Mutation_p.S230F|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	230	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATATGAATCCTCAGAAAAT	0.383000													25	52					0	0	0.005443	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590624	136590624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:136590624C>T	ENST00000531224.1	-	9	2422	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E722K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E551K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E724K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E722K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E722K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	724					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGAGTTTTTTCCTGCTTTCTT	0.393000													6	74					0	0	0.001984	0	0
PGK2	5232	broad.mit.edu	37	6	49754498	49754498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:49754498G>A	ENST00000304801.3	-	1	555	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	135					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTCCAGAGGGATCTTGGCCC	0.507000													36	69					0	0	0.004289	0	0
ZNF287	57336	broad.mit.edu	37	17	16455518	16455518	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:16455518T>G	ENST00000395824.1	-	6	2555	c.1938A>C	c.(1936-1938)aaA>aaC	p.K646N	ZNF287_ENST00000395825.3_Missense_Mutation_p.K646N			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	639					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTAAAGGGTTTTTCTCCAT	0.388000													14	14					0	0	0.001855	0	0
TPK1	27010	broad.mit.edu	37	7	144320338	144320338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:144320338G>A	ENST00000360057.3	-	6	377	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.S87L|TPK1_ENST00000378099.3_Missense_Mutation_p.S92L|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	92					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCAGGAGTTGAAATGAGCTC	0.308000													98	213					0	0	0.003610	0	0
NOMO1	23420	broad.mit.edu	37	16	14973896	14973896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:14973896C>T	ENST00000287667.7	+	24	2953	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	928						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTACTTCAAACCCATGATGAA	0.517000													41	128					0	0	0.003610	0	0
COL8A1	1295	broad.mit.edu	37	3	99513871	99513871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:99513871G>A	ENST00000261037.3	+	5	1506	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	COL8A1_ENST00000273342.4_Missense_Mutation_p.E376K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	376	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ACCAAGAGGGGAGAAAGGACC	0.617000													9	19					0	0	0.004482	0	0
NCR1	9437	broad.mit.edu	37	19	55424075	55424075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55424075C>T	ENST00000594765.1	+	7	773	c.748C>T	c.(748-750)Cac>Tac	p.H250Y	NCR1_ENST00000598576.1_Missense_Mutation_p.H238Y|NCR1_ENST00000357397.5_Missense_Mutation_p.H144Y|NCR1_ENST00000447255.1_Missense_Mutation_p.H250Y|NCR1_ENST00000338835.5_Missense_Mutation_p.H234Y|NCR1_ENST00000350790.5_Missense_Mutation_p.H156Y|NCR1_ENST00000291890.4_Missense_Mutation_p.H251Y			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	251					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCTCTGGGATCACACTGCCCA	0.478000													15	50					0	0	0.004007	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651428	117651428	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:117651428C>T	ENST00000321322.6	-	2	325	c.324G>A	c.(322-324)ccG>ccA	p.P108P	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	48	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCCCGCGGCCGGGCAGGGCA	0.662000													19	24					0	0	0.008871	0	0
FBLN5	10516	broad.mit.edu	37	14	92336596	92336596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:92336596C>T	ENST00000267620.10	-	12	1611	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000342058.4_Missense_Mutation_p.R440Q|FBLN5_ENST00000556154.1_Missense_Mutation_p.R445Q			Q9UBX5	FBLN5_HUMAN	fibulin 5	440					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CACATATATCCGCAGTCGGAT	0.552000													47	41					0	0	0.003214	0	0
C4BPB	725	broad.mit.edu	37	1	207269908	207269908	+	Missense_Mutation	SNP	G	G	A	rs75563598		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207269908G>A	ENST00000243611.5	+	4	745	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	C4BPB_ENST00000367076.3_Missense_Mutation_p.E150K|C4BPB_ENST00000367078.3_Missense_Mutation_p.E151K|C4BPB_ENST00000391923.1_Missense_Mutation_p.E151K	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	151	Sushi 3.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TGGCTATTTTGAAGGAAATAA	0.468000													23	80					0	0	0.002780	0	0
TGM6	343641	broad.mit.edu	37	20	2375916	2375916	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:2375916A>C	ENST00000202625.2	+	3	319	c.258A>C	c.(256-258)acA>acC	p.T86T	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.T86T	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	86					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGGGCTGGACAGCAGCAAGGG	0.612000													9	21					0	0	0.004482	0	0
PRSS1	5644	broad.mit.edu	37	7	142459673	142459673	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142459673G>A	ENST00000486171.1	+	4	308	c.291G>A	c.(289-291)ggG>ggA	p.G97G	PRSS1_ENST00000311737.7_Silent_p.G83G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	83	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCCTGGAGGGGAATGAGCAGT	0.547000													56	127					0	0	0.003610	0	0
DRD5	1816	broad.mit.edu	37	4	9783893	9783893	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:9783893C>T	ENST00000304374.2	+	1	636	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	80					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACGTCTTCATCGTGTCTCTGG	0.632000													15	35					0	0	0.003163	0	0
NUMA1	4926	broad.mit.edu	37	11	71727571	71727571	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:71727571G>A	ENST00000393695.3	-	14	1456	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	NUMA1_ENST00000358965.6_Silent_p.C375C|NUMA1_ENST00000351960.6_Silent_p.C375C|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	375					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTCTTCAAGGCATTTCTGGG	0.512000			T	RARA	APL								18	49					0	0	0.001882	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394846	233394846	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:233394846C>T	ENST00000258229.8	-	5	996	c.762G>A	c.(760-762)aaG>aaA	p.K254K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	254						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGCAACTTCTTCAAGGGTC	0.502000													24	117					0	0	0.003330	0	0
TEX15	56154	broad.mit.edu	37	8	30699874	30699874	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:30699874C>T	ENST00000256246.2	-	1	6734	c.6660G>A	c.(6658-6660)agG>agA	p.R2220R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2220										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)		CTAAATCTTTCCTAGGGGCAG	0.338000													31	83					0	0	0.001786	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334628	69334628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:69334628G>A	ENST00000305363.4	+	4	354	c.290G>A	c.(289-291)aGg>aAg	p.R97K		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	97	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R97M(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCTCCATTAAGGGAAGAATTT	0.299000													48	127					0	0	0.003610	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416260	57416260	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:57416260C>T	ENST00000565912.1	+	2	3102	c.396C>T	c.(394-396)ccC>ccT	p.P132P	CX3CL1_ENST00000006053.6_Silent_p.P170P|CX3CL1_ENST00000563383.1_Silent_p.P176P|CX3CL1_ENST00000564948.1_3'UTR			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	170	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCAGGCTCCCCCCGACGCCAA	0.682000													28	38					0	0	0.008361	0	0
OR10A3	26496	broad.mit.edu	37	11	7960951	7960951	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:7960951C>T	ENST00000360759.3	-	1	190	c.117G>A	c.(115-117)ctG>ctA	p.L39L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATTTCCCATCAGGGTCACCA	0.473000													30	36					0	0	0.008361	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000													21	48					0	0	0.001523	0	0
PLCL2	23228	broad.mit.edu	37	3	17052619	17052619	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:17052619A>C	ENST00000418129.2	+	2	1868	c.1403A>C	c.(1402-1404)cAg>cCg	p.Q468P	PLCL2_ENST00000396755.2_Missense_Mutation_p.Q468P|PLCL2_ENST00000432376.1_Missense_Mutation_p.Q468P	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	594	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAAATGTCTCAGAGGATGGGA	0.423000													11	22					0	0	0.008291	0	0
P2RY8	286530	broad.mit.edu	37	X	1585282	1585282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:1585282G>A	ENST00000381297.4	-	2	380	c.170C>T	c.(169-171)cCg>cTg	p.P57L		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	57						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GATGACCGACGGGGATCTGGG	0.622000			T	CRLF2	"""B-ALL, Downs associated ALL"""								24	37					0	0	0.003330	0	0
OR13G1	441933	broad.mit.edu	37	1	247836013	247836013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247836013G>A	ENST00000359688.2	-	1	352	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L111I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGGTGAAGAGAACCATCTCA	0.468000													18	40					0	0	0.008871	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2979713	2979713	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:2979713G>A	ENST00000399667.2	+	3	390	c.27G>A	c.(25-27)caG>caA	p.Q9Q	FLYWCH1_ENST00000416288.2_Silent_p.Q9Q|FLYWCH1_ENST00000253928.9_Silent_p.Q9Q			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	9						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCAGCGAGCAGGAGGGCGAGA	0.692000													6	11					0	0	0.003080	0	0
EMR1	2015	broad.mit.edu	37	19	6921750	6921750	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:6921750C>T	ENST00000312053.4	+	14	1684	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	EMR1_ENST00000381407.5_Silent_p.I408I|EMR1_ENST00000450315.3_Silent_p.I372I|EMR1_ENST00000381404.4_Silent_p.I497I|EMR1_ENST00000250572.8_Silent_p.I549I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	549	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGAGGCCCATCTGTGTTTCCT	0.428000													19	20					0	0	0.006122	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340393	29340393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:29340393G>A	ENST00000269205.5	-	1	450	c.262C>T	c.(262-264)Cga>Tga	p.R88*	SLC25A52_ENST00000579441.2_Nonsense_Mutation_p.R78*	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	78					transport	integral to membrane|mitochondrial inner membrane											TACAAATTTCGAAATCCATCC	0.463000													33	75					0	0	0.002836	0	0
WNT2	7472	broad.mit.edu	37	7	116937682	116937682	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:116937682G>A	ENST00000265441.3	-	4	1136	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	279					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTCGGTCCCTGATACAGTAGT	0.393000													29	55					0	0	0.008361	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307760	136307760	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:136307760C>T	ENST00000371929.3	+	18	2574	c.2130C>T	c.(2128-2130)tgC>tgT	p.C710C	ADAMTS13_ENST00000356589.2_Silent_p.C679C|ADAMTS13_ENST00000355699.2_Silent_p.C710C|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	710	TSP type-1 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACTACAGCTGCCTGGACCAGG	0.672000													28	17					0	0	0.006320	0	0
CNTN6	27255	broad.mit.edu	37	3	1337488	1337488	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:1337488G>A	ENST00000446702.2	+	6	1285	c.658_splice	c.e6+1	p.G220_splice	CNTN6_ENST00000539053.1_Splice_Site_p.G148_splice|CNTN6_ENST00000350110.2_Splice_Site_p.G220_splice			Q9UQ52	CNTN6_HUMAN	contactin 6	220					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)		GCGCACTGATGGTAAGATAAT	0.448000													16	38					0	0	0.004990	0	0
NLRP3	114548	broad.mit.edu	37	1	247588113	247588113	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247588113G>A	ENST00000366497.2	+	4	2148	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	NLRP3_ENST00000348069.2_Silent_p.G456G|NLRP3_ENST00000391828.3_Silent_p.G456G|NLRP3_ENST00000366496.2_Silent_p.G456G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.G456G|NLRP3_ENST00000391827.2_Silent_p.G456G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	456	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCGGGGAGGGAGCCAGGAGC	0.592000													17	67					0	0	0.004990	0	0
LPAR2	9170	broad.mit.edu	37	19	19737444	19737444	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:19737444C>A	ENST00000542587.1	-	5	1552	c.650G>T	c.(649-651)cGg>cTg	p.R217L	LPAR2_ENST00000407877.3_Missense_Mutation_p.R217L|LPAR2_ENST00000586703.1_Missense_Mutation_p.R217L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	217					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CTGCACTCGCCGCCGCACGTA	0.602000													31	69					8.16721e-17	9.84709e-17	0.002096	1	0
RAB40AL	282808	broad.mit.edu	37	X	102193023	102193023	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:102193023C>T	ENST00000218249.5	+	1	824	c.777C>T	c.(775-777)atC>atT	p.I259I	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	259					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAGTGAAGATCGTCTGCCCAC	0.537000													39	18					0	0	0.004878	0	0
CHPF2	54480	broad.mit.edu	37	7	150931226	150931226	+	Silent	SNP	C	C	T	rs143803281	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150931226C>T	ENST00000035307.2	+	1	1642	c.129C>T	c.(127-129)gtC>gtT	p.V43V	CHPF2_ENST00000495645.1_Silent_p.V35V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	43						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATCCCTGTGTCGAGGCTGTAG	0.597000													27	63					0	0	0.008361	0	0
CPSF1	29894	broad.mit.edu	37	8	145620346	145620346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:145620346G>A	ENST00000349769.3	-	29	3333	c.3239C>T	c.(3238-3240)tCc>tTc	p.S1080F		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1080					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTGACCGGGGAGATGAGCTG	0.662000													16	33					0	0	0.006122	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427288	38427288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:38427288C>T	ENST00000322350.5	+	14	2334	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	EGFLAM_ENST00000397202.2_Missense_Mutation_p.S29F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S429F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S663F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	663	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTTCCTGTCCATCAACTTG	0.527000													65	120					0	0	0.003610	0	0
SLC37A1	54020	broad.mit.edu	37	21	44000468	44000468	+	Nonstop_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:44000468T>G	ENST00000352133.2	+	20	2582	c.1600T>G	c.(1600-1602)Tga>Gga	p.*534G	SLC37A1_ENST00000398341.3_Nonstop_Mutation_p.*534G			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	0					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TAAGGAACAGTGACACCCCAC	0.527000													7	30					0	0	0.004482	0	0
RASAL3	64926	broad.mit.edu	37	19	15566920	15566920	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:15566920G>A	ENST00000343625.6	-	11	1796	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	572	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTCACTCGTAGGAATGGATAA	0.567000													19	50					0	0	0.001882	0	0
DNAH8	1769	broad.mit.edu	37	6	38793989	38793989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38793989G>A	ENST00000359357.3	+	27	3508	c.3254G>A	c.(3253-3255)cGa>cAa	p.R1085Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1302Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1085Q					dynein, axonemal, heavy chain 8									p.R1085Q(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTACTCTGTCGATATCTGAAT	0.328000													26	41					0	0	0.006320	0	0
DAB1	1600	broad.mit.edu	37	1	57536707	57536707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:57536707G>A	ENST00000371236.2	-	7	849	c.586C>T	c.(586-588)Cct>Tct	p.P196S	DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.P196S|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371230.1_Missense_Mutation_p.P196S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P196S|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	196					cell differentiation|nervous system development			p.P196S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGTACACAGGATCTTCAACA	0.433000													42	93					0	0	0.002852	0	0
NR2F1	7025	broad.mit.edu	37	5	92929450	92929450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:92929450C>T	ENST00000327111.3	+	3	2861	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	392					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTTCTTCGTCCGTTTGGTAGG	0.567000													63	43					0	0	0.003610	0	0
MADD	8567	broad.mit.edu	37	11	47330880	47330880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:47330880C>T	ENST00000342922.4	+	24	4160	c.3803C>T	c.(3802-3804)gCc>gTc	p.A1268V	MADD_ENST00000407859.3_Missense_Mutation_p.A1245V|MADD_ENST00000406482.1_Missense_Mutation_p.A1225V|MADD_ENST00000405573.2_Missense_Mutation_p.A137V|MADD_ENST00000402799.1_Missense_Mutation_p.A1225V|MADD_ENST00000402192.2_Missense_Mutation_p.A1267V|MADD_ENST00000395336.3_Missense_Mutation_p.A1327V|MADD_ENST00000395344.3_Missense_Mutation_p.A1221V|MADD_ENST00000349238.3_Missense_Mutation_p.A1288V|MADD_ENST00000311027.5_Missense_Mutation_p.A1327V	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1327					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGGGAAGATGCCTTCTTAGAT	0.443000													22	40					0	0	0.002780	0	0
RP1	6101	broad.mit.edu	37	8	55540288	55540288	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:55540288T>C	ENST00000220676.1	+	4	3994	c.3846T>C	c.(3844-3846)ccT>ccC	p.P1282P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1282					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)			CTTTTTTTCCTAGTGATGGTT	0.408000													48	117					0	0	0.003610	0	0
KIF1C	10749	broad.mit.edu	37	17	4926928	4926928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:4926928C>T	ENST00000320785.5	+	23	3151	c.2794C>T	c.(2794-2796)Cct>Tct	p.P932S		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	932					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGAGGAGGACCCTGCCTTCCG	0.716000													14	35					0	0	0.001855	0	0
SETX	23064	broad.mit.edu	37	9	135224736	135224736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:135224736G>A	ENST00000372169.2	-	3	262	c.80C>T	c.(79-81)tCc>tTc	p.S27F	SETX_ENST00000224140.5_Missense_Mutation_p.S27F|SETX_ENST00000393220.1_Missense_Mutation_p.S27F			Q7Z333	SETX_HUMAN	senataxin	27					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAATTCACCGGACGGAGTGTT	0.488000													28	15					0	0	0.004656	0	0
CLCN1	1180	broad.mit.edu	37	7	143049035	143049035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143049035G>A	ENST00000343257.2	+	23	3031	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	982					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGACGAGGAGGATGAGGATGA	0.627000													47	64					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28362298	28362298	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:28362298G>A	ENST00000261609.7	-	87	13383	c.13275C>T	c.(13273-13275)gtC>gtT	p.V4425V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4425					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTGATCGTTTGACCTGGAGAG	0.622000													14	17					0	0	0.006122	0	0
SVEP1	79987	broad.mit.edu	37	9	113312281	113312281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:113312281C>T	ENST00000401783.2	-	2	971	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.R189Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.R212Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.R189Q|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	212	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCTGAATCTCGCAGTGACGC	0.458000													42	34					0	0	0.007835	0	0
SPOP	8405	broad.mit.edu	37	17	47685283	47685283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:47685283G>A	ENST00000393331.3	-	9	1137	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	SPOP_ENST00000503676.1_Missense_Mutation_p.P223S|SPOP_ENST00000393328.2_Missense_Mutation_p.P223S|SPOP_ENST00000504102.1_Missense_Mutation_p.P223S|SPOP_ENST00000347630.2_Missense_Mutation_p.P223S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	223	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTAAAAACCGGAGAACGAGCT	0.408000										Prostate(2;0.17)			60	116					0	0	0.003610	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38632042	38632042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38632042C>T	ENST00000222345.6	+	11	3871	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1121					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCATAGTCCCCTTCCGGGAG	0.647000													36	86					0	0	0.007835	0	0
OR52B4	143496	broad.mit.edu	37	11	4389397	4389397	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4389397C>T	ENST00000408920.2	-	1	219	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGCTGTTCCCAAGAAGGG	0.527000													14	29					0	0	0.001855	0	0
COL19A1	1310	broad.mit.edu	37	6	70916851	70916851	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:70916851C>T	ENST00000322773.4	+	51	3404	c.3301_splice	c.e51-1	p.A1101_splice	COL19A1_ENST00000393344.1_Splice_Site_p.A723_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1101	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGTCGTTAGCTCTGGGTTTG	0.512000													55	146					0	0	0.003610	0	0
VILL	50853	broad.mit.edu	37	3	38035811	38035811	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38035811G>A	ENST00000283713.6	+	4	461	c.195G>A	c.(193-195)ggG>ggA	p.G65G	VILL_ENST00000383759.2_Silent_p.G65G|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	65					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACTGGGTCGGGAAGCAGGCGG	0.697000													13	23					0	0	0.003163	0	0
STH	246744	broad.mit.edu	37	17	44076813	44076813	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:44076813C>T	ENST00000537309.1	+	1	198	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	56						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGTAGCTTCCCTGTTGACCC	0.522000													15	40					0	0	0.002450	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805875	77805875	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:77805875C>T	ENST00000380345.2	-	4	837	c.162G>A	c.(160-162)ccG>ccA	p.P54P	LHFPL2_ENST00000515007.2_Silent_p.P54P	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	54						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGTAGGGCTCCGGGGAgcccc	0.706000													4	8					0	0	0.000248	0	0
MEGF6	1953	broad.mit.edu	37	1	3425766	3425766	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:3425766G>A	ENST00000356575.4	-	12	1627	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	MEGF6_ENST00000294599.4_Silent_p.F362F	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	467						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGGGCCGCACGAAAGGCAGCT	0.687000													4	5					0	0	0.000602	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973485	29973485	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:29973485T>C	ENST00000378993.1	+	11	2312	c.1639T>C	c.(1639-1641)Ttg>Ctg	p.L547L	IL1RAPL1_ENST00000302196.4_Silent_p.L547L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	547	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATGCAACAAGTTGAACTCCAA	0.453000													8	11					0	0	0.006214	0	0
S100A7A	338324	broad.mit.edu	37	1	153391683	153391683	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:153391683G>A	ENST00000368729.4	+	3	261	c.204G>A	c.(202-204)aaG>aaA	p.K68K	S100A7A_ENST00000329256.2_Silent_p.K68K|S100A7A_ENST00000368728.2_Silent_p.K68K	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	68	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGAGGATAAGAAGATTGATT	0.443000													21	95					0	0	0.002299	0	0
OR2J2	26707	broad.mit.edu	37	6	29141408	29141408	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29141408G>A	ENST00000377167.2	+	0	98					NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATAAGAAAAAGATGAATGATG	0.358000													23	72					0	0	0.002299	0	0
APOB	338	broad.mit.edu	37	2	21230801	21230801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21230801G>A	ENST00000233242.1	-	26	9066	c.8939C>T	c.(8938-8940)tCc>tTc	p.S2980F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2980					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGTTGAGGGAGCCAGATTC	0.428000													392	192					0	0	0.003610	0	0
SEPT6	23157	broad.mit.edu	37	X	118786936	118786936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:118786936G>A	ENST00000394610.1	-	4	673	c.409C>T	c.(409-411)Cga>Tga	p.R137*	SEPT6_ENST00000394617.2_Nonsense_Mutation_p.R167*|SEPT6_ENST00000489216.1_Nonsense_Mutation_p.R137*|SEPT6_ENST00000360156.7_Nonsense_Mutation_p.R137*|SEPT6_ENST00000354416.3_Nonsense_Mutation_p.R137*|SEPT6_ENST00000354228.4_Nonsense_Mutation_p.R137*|SEPT6_ENST00000343984.5_Nonsense_Mutation_p.R137*|SEPT6_ENST00000394616.4_Nonsense_Mutation_p.R79*	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	137					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						AGCACTCTTCGGATCTTTAGC	0.512000			T	MLL	AML								27	14					0	0	0.001786	0	0
UBL7	84993	broad.mit.edu	37	15	74742300	74742300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:74742300G>A	ENST00000567435.1	-	7	1104	c.641C>T	c.(640-642)tCc>tTc	p.S214F	UBL7_ENST00000564488.1_Missense_Mutation_p.S214F|UBL7_ENST00000361351.4_Missense_Mutation_p.S214F|UBL7_ENST00000395081.2_Missense_Mutation_p.S214F|UBL7_ENST00000565335.1_Missense_Mutation_p.S214F			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	214							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTATGAGCTGGAGGGCATGCT	0.592000													11	23					0	0	0.001855	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524815	26524815	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:26524815C>T	ENST00000456354.2	+	6	784	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	239					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGCATTCGTGCCCAAGC	0.512000													113	209					0	0	0.003610	0	0
MAP1A	4130	broad.mit.edu	37	15	43817994	43817994	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:43817994G>A	ENST00000382031.1	+	5	5068	c.5037G>A	c.(5035-5037)aaG>aaA	p.K1679K	MAP1A_ENST00000300231.5_Silent_p.K1441K|MAP1A_ENST00000399453.1_Silent_p.K1441K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1441						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAAAAGACAAGGCCCTGGAAC	0.448000													12	28					0	0	0.000978	0	0
LOC645166	645166	broad.mit.edu	37	1	148932909	148932909	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:148932909C>T	ENST00000539543.1	+	0	165					NR_027355.1																						GGCCAAGACTCCGTCCTGCAA	0.607000													8	185					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113662432	113662432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:113662432C>T	ENST00000297405.5	-	19	3395	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1011K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1051K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E947K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1051	Sushi 5.					integral to membrane|plasma membrane		p.E1051K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTTTTTTTCGCATAGAAGG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	76					0	0	0.003330	0	0
PLCB4	5332	broad.mit.edu	37	20	9440329	9440329	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9440329C>T	ENST00000378501.2	+	31	3099	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	PLCB4_ENST00000334005.3_Silent_p.I1028I|PLCB4_ENST00000378473.3_Silent_p.I1040I|PLCB4_ENST00000378493.1_Silent_p.I1028I|PLCB4_ENST00000414679.2_Silent_p.I1040I|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000278655.4_Silent_p.I1028I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1028					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGAAATGATCAATACCCACA	0.483000													7	27					0	0	0.003080	0	0
OR6X1	390260	broad.mit.edu	37	11	123624355	123624355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:123624355C>T	ENST00000327930.2	-	1	898	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCCTTGTTTCTAATAGTATA	0.418000													61	74					0	0	0.003610	0	0
MAP10	54627	broad.mit.edu	37	1	232942561	232942561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:232942561G>A	ENST00000418460.1	+	1	1919	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		TTCTGTGGGGGGATGTGAAAA	0.423000													17	44					0	0	0.004990	0	0
SLC9A8	23315	broad.mit.edu	37	20	48481307	48481307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:48481307C>T	ENST00000417961.1	+	10	1142	c.932C>T	c.(931-933)cCt>cTt	p.P311L	SLC9A8_ENST00000361573.2_Missense_Mutation_p.P295L|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Missense_Mutation_p.P76L	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	295						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			AGGAAAACGCCTTCCTTGGAG	0.453000													18	68					0	0	0.007413	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428092	6428092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:6428092G>A	ENST00000536531.1	+	12	1636	c.1457G>A	c.(1456-1458)gGg>gAg	p.G486E	PLEKHG6_ENST00000011684.7_Intron|PLEKHG6_ENST00000449001.2_Intron|PLEKHG6_ENST00000396988.3_Intron			Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	559	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCTCAGCGAGGGGAAGGAGGA	0.562000													5	19					0	0	0.000602	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764926	109764926	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:109764926C>T	ENST00000602699.1	+	0	1387					NR_002718.2																						TACTATTAATCGACATTGACC	0.408000													19	4					0	0	0.001523	0	0
NCOR2	9612	broad.mit.edu	37	12	124979719	124979719	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:124979719G>T	ENST00000356219.3	-	2	234	c.79C>A	c.(79-81)Cca>Aca	p.P27T	NCOR2_ENST00000429285.2_Missense_Mutation_p.P27T|NCOR2_ENST00000404621.1_Missense_Mutation_p.P27T|NCOR2_ENST00000397355.1_Missense_Mutation_p.P27T|NCOR2_ENST00000405201.1_Missense_Mutation_p.P27T|NCOR2_ENST00000404121.2_5'UTR	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	27					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATCTGCACTGGGTAGGAAAGG	0.647000													17	28					1.50039e-11	1.80355e-11	0.001882	1	0
CACNA1A	773	broad.mit.edu	37	19	13476165	13476165	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:13476165T>C	ENST00000360228.5	-	5	749	c.750A>G	c.(748-750)ggA>ggG	p.G250G	CACNA1A_ENST00000573710.2_Silent_p.G250G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	250					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TATGAAATTTTCCCATATAAA	0.443000													45	97					0	0	0.003610	0	0
TROVE2	6738	broad.mit.edu	37	1	193038753	193038753	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:193038753C>A	ENST00000367446.3	+	2	779	c.569C>A	c.(568-570)cCt>cAt	p.P190H	TROVE2_ENST00000367444.3_Missense_Mutation_p.P190H|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367445.3_Missense_Mutation_p.P190H|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.P190H|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.P190H|TROVE2_ENST00000400968.2_Missense_Mutation_p.P190H	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	190	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CATCTTAAACCTTCCAGTGAA	0.363000													17	70					4.7546e-09	5.70839e-09	0.004007	1	0
OR12D3	81797	broad.mit.edu	37	6	29342328	29342328	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29342328A>C	ENST00000396806.3	-	1	740	c.737T>G	c.(736-738)gTg>gGg	p.V246G	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAGACATACCACCATAAAATG	0.473000													9	31					0	0	0.004482	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779702	31779702	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:31779702G>A	ENST00000375654.4	-	2	237	c.48C>T	c.(46-48)acC>acT	p.T16T	HSPA1L_ENST00000417199.3_Silent_p.T16T	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	16					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CACAGGAGTAGGTGGTGCCCA	0.572000													88	360					0	0	0.003610	0	0
OAF	220323	broad.mit.edu	37	11	120099837	120099837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:120099837C>T	ENST00000328965.4	+	4	1321	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	OAF_ENST00000531220.1_Missense_Mutation_p.P154S	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	270										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGATGAGGATCCCTACCCAGG	0.647000													18	23					0	0	0.001882	0	0
FNTB	2342	broad.mit.edu	37	14	65494184	65494184	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:65494184C>T	ENST00000246166.2	+	5	622	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000447296.2_Silent_p.L164L|CHURC1-FNTB_ENST00000448390.2_5'UTR|CHURC1-FNTB_ENST00000542227.1_Silent_p.L84L|FNTB_ENST00000555742.1_3'UTR	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GTGTCAGTTCCTGGAGCTGTG	0.493000													64	129					0	0	0.003610	0	0
CALML5	51806	broad.mit.edu	37	10	5541038	5541038	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:5541038T>G	ENST00000380332.3	-	1	495	c.364A>C	c.(364-366)Atg>Ctg	p.M122L		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	122	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						TCGCGGATCATGGCGTCCAGC	0.711000													7	7					0	0	0.003080	0	0
SEC14L5	9717	broad.mit.edu	37	16	5046880	5046880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:5046880C>T	ENST00000251170.7	+	8	985	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	269						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCACATCCTTCGGTTCCTGCG	0.547000													10	24					0	0	0.008291	0	0
KLKB1	3818	broad.mit.edu	37	4	187153328	187153328	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187153328G>T	ENST00000264690.6	+	3	293	c.106G>T	c.(106-108)Gta>Tta	p.V36L	KLKB1_ENST00000513864.1_Missense_Mutation_p.V36L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	36	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AGGTGGGGATGTAGCTTCCAT	0.393000													23	61					1.80694e-10	2.17073e-10	0.001786	1	0
VAMP8	8673	broad.mit.edu	37	2	85808710	85808710	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:85808710C>G	ENST00000263864.5	+	3	330	c.174C>G	c.(172-174)ttC>ttG	p.F58L	VAMP8_ENST00000432071.1_Missense_Mutation_p.F32L|VAMP8_ENST00000409760.1_3'UTR	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	58	v-SNARE coiled-coil homology.				post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane				breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						CTGAGCACTTCAAGACGACAT	0.473000													6	96					0	0	0.001168	0	0
THEMIS	387357	broad.mit.edu	37	6	128151021	128151021	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:128151021C>T	ENST00000368250.1	-	4	570	c.72G>A	c.(70-72)agG>agA	p.R24R	THEMIS_ENST00000543064.1_Silent_p.R103R|THEMIS_ENST00000368248.2_Silent_p.R103R|THEMIS_ENST00000537166.1_Silent_p.R68R			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	103	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TATGAATGGTCCTTGTGATTT	0.363000													25	61					0	0	0.007291	0	0
ANXA3	306	broad.mit.edu	37	4	79503353	79503353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:79503353G>A	ENST00000264908.6	+	5	600	c.221G>A	c.(220-222)gGt>gAt	p.G74D	ANXA3_ENST00000512884.1_Missense_Mutation_p.G35D|ANXA3_ENST00000503570.2_Missense_Mutation_p.G35D	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	74					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GACTTGAAGGGTGATCTCTCT	0.418000													25	48					0	0	0.005443	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455147	74455147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:74455147G>A	ENST00000339953.5	-	1	143	c.22C>T	c.(22-24)Cct>Tct	p.P8S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	8						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCCCGGCCAGGGGAGGTCTCT	0.682000													21	40					0	0	0.001882	0	0
NDOR1	27158	broad.mit.edu	37	9	140108686	140108686	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:140108686C>T	ENST00000371521.4	+	6	626	c.543C>T	c.(541-543)ctC>ctT	p.L181L	NDOR1_ENST00000458322.2_Silent_p.L181L|NDOR1_ENST00000427047.2_Silent_p.L147L|NDOR1_ENST00000344894.5_Silent_p.L181L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	181					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGCTGTTCCTCCAAGAGGCAC	0.682000													13	7					0	0	0.002450	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121991770	121991770	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:121991770C>T	ENST00000263707.5	-	12	1192	c.1094_splice	c.e12-1	p.R365_splice		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	365					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCCTCACATTCCTGGCAGGAG	0.507000													45	16					0	0	0.002852	0	0
GPR98	84059	broad.mit.edu	37	5	89989777	89989777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:89989777G>A	ENST00000405460.2	+	33	7300	c.7204G>A	c.(7204-7206)Gag>Aag	p.E2402K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2402					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)		TCTGGCAATGGAGGAAGGTCA	0.483000													17	9					0	0	0.004990	0	0
KMT2D	8085	broad.mit.edu	37	12	49445153	49445153	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:49445153G>A	ENST00000301067.7	-	10	2312	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGGCTGGGGGGACAGGTGTG	0.682000													14	25					0	0	0.004007	0	0
IGF2R	3482	broad.mit.edu	37	6	160494795	160494795	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:160494795T>G	ENST00000356956.1	+	35	5102	c.4954T>G	c.(4954-4956)Tgt>Ggt	p.C1652G		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1652					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACAGACCGAATGTTCCGTGAG	0.403000													12	35					0	0	0.002450	0	0
OR5B12	390191	broad.mit.edu	37	11	58206915	58206915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58206915G>A	ENST00000302572.2	-	1	731	c.710C>T	c.(709-711)tCt>tTt	p.S237F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S237C(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCACAAGTAGAAAAGGCCTT	0.418000													11	24					0	0	0.001368	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691241	18691241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:18691241G>A	ENST00000433979.1	+	24	3468	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1159K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1118K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1118	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAACCTGCTGGAAATGGTAAG	0.393000													24	48					0	0	0.005443	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301965	110301965	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110301965A>C	ENST00000369805.3	-	5	529	c.300T>G	c.(298-300)aaT>aaG	p.N100K	EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Missense_Mutation_p.N100K|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.N100K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	100						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGAGCGCCACATTCATGGCCT	0.597000													161	125					0	0	0.003610	0	0
LRP4	4038	broad.mit.edu	37	11	46916738	46916738	+	Missense_Mutation	SNP	G	G	A	rs140528156		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46916738G>A	ENST00000378623.1	-	11	1530	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	430	EGF-like 2; calcium-binding (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCTGCGCCGGTCGGGCCGT	0.607000													20	40					0	0	0.008871	0	0
CCDC24	149473	broad.mit.edu	37	1	44459600	44459600	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:44459600A>C	ENST00000372318.3	+	5	632	c.461A>C	c.(460-462)aAc>aCc	p.N154T	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	154										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GACCAACTGAACGTGTCCAAC	0.562000													20	33					0	0	0.002299	0	0
ARSJ	79642	broad.mit.edu	37	4	114823887	114823887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:114823887G>A	ENST00000315366.7	-	2	2209	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	ARSJ_ENST00000541197.1_Missense_Mutation_p.A448V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	448						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CACTCTGATGGCTGACTGGAT	0.522000													34	67					0	0	0.004878	0	0
DNM3	26052	broad.mit.edu	37	1	172292470	172292470	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:172292470G>C	ENST00000358155.4	+	17	2059	c.1881_splice	c.e17-1	p.G628_splice	DNM3_ENST00000367731.1_Intron|DNM3_ENST00000355305.5_Intron	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	637					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATGCATAGGGGAACAACAAA	0.408000													10	13					0	0	0.001855	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566434	45566434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:45566434G>A	ENST00000588982.1	-	3	1546	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P349S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P349S|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P349S|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P349S			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	349						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGGGCCAGGGTGGGAAGAGG	0.647000													32	85					0	0	0.003271	0	0
TIAM2	26230	broad.mit.edu	37	6	155450986	155450986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:155450986C>T	ENST00000461783.3	+	6	1902	c.629C>T	c.(628-630)cCt>cTt	p.P210L	TIAM2_ENST00000456144.1_Missense_Mutation_p.P210L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P210L|TIAM2_ENST00000360366.4_Missense_Mutation_p.P210L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.P210L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	210					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAACCTCCCCTGTGCCTGAA	0.637000													9	39					0	0	0.008291	0	0
P2RY10	27334	broad.mit.edu	37	X	78217006	78217006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:78217006G>A	ENST00000171757.2	+	4	1269	c.989G>A	c.(988-990)aGc>aAc	p.S330N	P2RY10_ENST00000544091.1_Missense_Mutation_p.S330N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	330						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CGCCTCATGAGCAAGGAGAGT	0.428000													41	18					0	0	0.003610	0	0
CD40	958	broad.mit.edu	37	20	44757560	44757560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:44757560C>T	ENST00000372285.3	+	9	787	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	CD40_ENST00000372276.3_3'UTR|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	239					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GATCAATTTTCCCGACGATCT	0.607000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	43					0	0	0.004990	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561576	11561576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11561576C>T	ENST00000294484.6	+	2	665	c.527C>T	c.(526-528)cCc>cTc	p.P176L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P176L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	176					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGCGTCATCCCCGCGGCCTCA	0.687000													8	19					0	0	0.006214	0	0
ZNF556	80032	broad.mit.edu	37	19	2878238	2878238	+	Missense_Mutation	SNP	G	G	A	rs35494032	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:2878238G>A	ENST00000586426.1	+	4	1366	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ZNF556_ENST00000307635.2_Missense_Mutation_p.E428K			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTAAATGCGAAAAATGTGG	0.448000													42	120					0	0	0.003214	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116940	117116940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117116940C>T	ENST00000310357.3	-	5	1628	c.1607G>A	c.(1606-1608)aGa>aAa	p.R536K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R465K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R361K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	536					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTGTTGACTTCTTGTAGTTTT	0.338000													16	36					0	0	0.004007	0	0
KCNU1	157855	broad.mit.edu	37	8	36768475	36768475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:36768475C>T	ENST00000399881.3	+	22	2396	c.2359C>T	c.(2359-2361)Cat>Tat	p.H787Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	787						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGGAGACCTCCATGCGGCCAA	0.527000													20	51					0	0	0.001882	0	0
KCNA1	3736	broad.mit.edu	37	12	5021335	5021335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:5021335C>T	ENST00000382545.3	+	2	1898	c.791C>T	c.(790-792)cCt>cTt	p.P264L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	264					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCATCATTCCTTATTTCATC	0.542000													38	45					0	0	0.008740	0	0
TSIX	9383	broad.mit.edu	37	X	73040479	73040479	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:73040479C>T	ENST00000604411.1	+	0	28440					NR_003255.2																						ATTGTCACATCAAAATACAAA	0.269000													7	2					0	0	0.003080	0	0
OR2A5	393046	broad.mit.edu	37	7	143747612	143747612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143747612G>A	ENST00000408906.2	+	1	152	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CACCCTGCTGGGAAATGGGGC	0.512000													31	62					0	0	0.001786	0	0
DNAH8	1769	broad.mit.edu	37	6	38891881	38891881	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38891881G>A	ENST00000359357.3	+	71	10508	c.10254G>A	c.(10252-10254)cgG>cgA	p.R3418R	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.R3635R|DNAH8_ENST00000441566.1_Silent_p.R3382R|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGAGCACGGAAAATTCCTT	0.373000													28	55					0	0	0.006320	0	0
AQP9	366	broad.mit.edu	37	15	58465319	58465319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:58465319G>A	ENST00000219919.4	+	3	661	c.291G>A	c.(289-291)atG>atA	p.M97I	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.M32I|AQP9_ENST00000536493.1_Missense_Mutation_p.M97I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	97					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTGGACGGATGAAATGGTTCA	0.478000													76	173					0	0	0.003610	0	0
FRS3	10817	broad.mit.edu	37	6	41744686	41744686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41744686G>A	ENST00000373018.3	-	3	291	c.40C>T	c.(40-42)Cca>Tca	p.P14S	FRS3_ENST00000466420.1_5'UTR|FRS3_ENST00000259748.2_Missense_Mutation_p.P14S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	14	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGTTGTCTGGAACGCTGTCT	0.547000													30	103					0	0	0.004289	0	0
ZNF445	353274	broad.mit.edu	37	3	44491960	44491960	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:44491960A>T	ENST00000425708.2	-	5	1140	c.799T>A	c.(799-801)Tat>Aat	p.Y267N	ZNF445_ENST00000396077.2_Missense_Mutation_p.Y267N			P59923	ZN445_HUMAN	zinc finger protein 445	267	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATGTTCCTATAATTCTCCAGC	0.483000													33	42					0	0	0.002836	0	0
SPAG17	200162	broad.mit.edu	37	1	118565958	118565958	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:118565958C>T	ENST00000336338.5	-	28	4103	c.4038G>A	c.(4036-4038)acG>acA	p.T1346T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1346						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGATGGTATCGTTTCTGATT	0.398000													18	48					0	0	0.006122	0	0
RYR1	6261	broad.mit.edu	37	19	38976621	38976621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38976621C>T	ENST00000355481.4	+	34	5457	c.5326C>T	c.(5326-5328)Cat>Tat	p.H1776Y	RYR1_ENST00000359596.3_Missense_Mutation_p.H1776Y|RYR1_ENST00000360985.3_Missense_Mutation_p.H1776Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1776	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)	GCCCCCGCATCATTTCTCGCC	0.687000													15	29					0	0	0.003163	0	0
TRPM6	140803	broad.mit.edu	37	9	77397640	77397640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:77397640G>A	ENST00000451710.3	-	22	3286	c.3049C>T	c.(3049-3051)Cca>Tca	p.P1017S	TRPM6_ENST00000376864.4_Missense_Mutation_p.P1017S|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1012S|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1012S|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1017S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1017					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCCAGTATGGCTCAAATACA	0.458000													27	34					0	0	0.005443	0	0
KRT1	3848	broad.mit.edu	37	12	53073632	53073632	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:53073632C>T	ENST00000252244.3	-	1	559	c.501G>A	c.(499-501)gtG>gtA	p.V167V		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	167	Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGTCAATCTCCACATTGAGGG	0.493000													40	90					0	0	0.003214	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366306	37366306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:37366306C>T	ENST00000361924.2	+	14	3303	c.2929C>T	c.(2929-2931)Cag>Tag	p.Q977*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q999*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	977	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						ATTACTGGATCAGGAAGCCAA	0.338000													38	78					0	0	0.008740	0	0
CARD11	84433	broad.mit.edu	37	7	2963920	2963920	+	Missense_Mutation	SNP	A	A	C	rs150116627		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:2963920A>C	ENST00000396946.4	-	15	2290	c.1887T>G	c.(1885-1887)gaT>gaG	p.D629E		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	629					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTCGTAGGCATCCAGGCCCT	0.597000			Mis		DLBCL								14	75					0	0	0.004007	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236922	55236922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:55236922G>A	ENST00000251091.5	+	7	1738	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	SAMD4A_ENST00000555192.1_Missense_Mutation_p.G157E|SAMD4A_ENST00000392067.3_Missense_Mutation_p.G566E|SAMD4A_ENST00000357634.3_Missense_Mutation_p.G565E|SAMD4A_ENST00000554335.1_Missense_Mutation_p.G566E	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	566					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GACATATCAGGATATCGACAG	0.458000													50	106					0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34148365	34148365	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:34148365C>T	ENST00000346193.3	-	1	2082	c.2031G>A	c.(2029-2031)agG>agA	p.R677R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	677										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTGGAATTTCCTGCCCCAGT	0.433000													27	18					0	0	0.005443	0	0
GNAS	2778	broad.mit.edu	37	20	57429123	57429123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:57429123C>T	ENST00000371100.4	+	1	1355	c.803C>T	c.(802-804)cCc>cTc	p.P268L	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P268L|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.P268L|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.P205S|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGCCTCACTCCCGCCGCGAAC	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	22					0	0	0.000248	0	0
ZNF454	285676	broad.mit.edu	37	5	178392301	178392301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:178392301C>T	ENST00000320129.3	+	5	1199	c.896C>T	c.(895-897)cCt>cTt	p.P299L	ZNF454_ENST00000519564.1_Missense_Mutation_p.P299L	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P299H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		GGAGAGAAACCTTTTAAATGT	0.383000													20	63					0	0	0.008871	0	0
OR52M1	119772	broad.mit.edu	37	11	4566561	4566561	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4566561C>T	ENST00000360213.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGACCATCCTGGCTGTGG	0.547000													28	65					0	0	0.006320	0	0
ERBB4	2066	broad.mit.edu	37	2	212812239	212812239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:212812239C>T	ENST00000342788.4	-	3	647	c.337G>A	c.(337-339)Gat>Aat	p.D113N	ERBB4_ENST00000402597.1_Missense_Mutation_p.D113N|ERBB4_ENST00000436443.1_Missense_Mutation_p.D113N|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	113					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCATATCGATCCTCATAAAGT	0.383000										TSP Lung(8;0.080)			39	14					0	0	0.006999	0	0
ARID3A	1820	broad.mit.edu	37	19	964880	964880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:964880G>A	ENST00000263620.3	+	6	1325	c.998G>A	c.(997-999)aGt>aAt	p.S333N		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	333						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGCCTCAGTAACCCCAAT	0.632000													24	32					0	0	0.005443	0	0
SERPINC1	462	broad.mit.edu	37	1	173873052	173873052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:173873052C>T	ENST00000367698.3	-	7	1488	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	457			R -> T (in AT3D; type-II).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTTGGCTACTCTGCCCATGAA	0.398000													14	72					0	0	0.001855	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	44					0	0	0.001168	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918319	154918319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:154918319G>A	ENST00000368463.3	-	10	1902	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	611					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCTGTTGCCGCACTGGGGCT	0.627000													27	98					0	0	0.006320	0	0
MYH4	4622	broad.mit.edu	37	17	10358358	10358358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10358358C>T	ENST00000255381.2	-	21	2445	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	779	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCGCATTTCCTCTAGAGTT	0.418000													24	40					0	0	0.006320	0	0
MAP6	4135	broad.mit.edu	37	11	75319354	75319354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:75319354C>T	ENST00000434603.2	-	2	983	c.919G>A	c.(919-921)Gca>Aca	p.A307T	MAP6_ENST00000526740.1_5'UTR|MAP6_ENST00000304771.3_Missense_Mutation_p.A307T	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	307	Calmodulin-binding (By similarity).|Mn 3.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCCGTCCATGCCCTGAATTCA	0.483000													16	46					0	0	0.008871	0	0
PLD2	5338	broad.mit.edu	37	17	4726006	4726006	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:4726006C>T	ENST00000263088.6	+	25	2780	c.2649C>T	c.(2647-2649)ccC>ccT	p.P883P	PLD2_ENST00000572940.1_Silent_p.P872P	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	883					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCGTGGAGCCCTTGGCCACGG	0.647000													40	56					0	0	0.002852	0	0
PCED1B	91523	broad.mit.edu	37	12	47629803	47629803	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:47629803G>A	ENST00000546455.1	+	4	1688	c.957G>A	c.(955-957)caG>caA	p.Q319Q	PCED1B_ENST00000432328.1_Silent_p.Q319Q					PC-esterase domain containing 1B																		tgtccccacagcctcctcctc	0.622000													37	80					0	0	0.004289	0	0
CD163	9332	broad.mit.edu	37	12	7647853	7647853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7647853C>T	ENST00000359156.4	-	6	1446	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CD163_ENST00000432237.2_Missense_Mutation_p.G415E|CD163_ENST00000541972.1_Missense_Mutation_p.G403E|CD163_ENST00000396620.3_Missense_Mutation_p.G415E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	415	SRCR 4.				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						AGATCCACATCCCAGCTGCCT	0.468000													28	76					0	0	0.001786	0	0
C12orf40	283461	broad.mit.edu	37	12	40114937	40114937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:40114937G>A	ENST00000324616.5	+	13	1997	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	615										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CATACAGTGTGATCTAATTTC	0.408000													20	52					0	0	0.008871	0	0
EYA2	2139	broad.mit.edu	37	20	45633618	45633618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:45633618G>A	ENST00000327619.5	+	4	567	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	EYA2_ENST00000317304.6_Missense_Mutation_p.A65T|EYA2_ENST00000357410.3_Missense_Mutation_p.A65T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	65					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCCTTCCACAGCCATGGCAGC	0.577000													34	89					0	0	0.006230	0	0
SETBP1	26040	broad.mit.edu	37	18	42531222	42531222	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:42531222G>A	ENST00000282030.5	+	4	2213	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	639						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCGGGAGAGGACAAACCCA	0.488000									Schinzel-Giedion syndrome				20	57					0	0	0.001523	0	0
RDH10	157506	broad.mit.edu	37	8	74209456	74209456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:74209456C>T	ENST00000240285.5	+	2	995	c.317C>T	c.(316-318)cCc>cTc	p.P106L	RDH10_ENST00000519380.1_5'UTR	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	106					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTCTGCCCCACTGTAAC	0.507000													25	22					0	0	0.004656	0	0
RP1L1	94137	broad.mit.edu	37	8	10464745	10464745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10464745G>A	ENST00000382483.3	-	4	7086	c.6863C>T	c.(6862-6864)cCc>cTc	p.P2288L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2288					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTTGGTGGGGAGTGTCTCC	0.582000													60	164					0	0	0.003610	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476316	87476316	+	Silent	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:87476316A>T	ENST00000341119.5	-	8	925	c.579T>A	c.(577-579)atT>atA	p.I193I		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	193					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCAAAGGGAAATCCAACCAT	0.403000													41	100					0	0	0.007835	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476314	87476314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:87476314G>A	ENST00000341119.5	-	8	927	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	194					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CCTCCAAAGGGAAATCCAACC	0.403000													40	93					0	0	0.006999	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885453	180885453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:180885453G>A	ENST00000367588.4	+	2	269	c.214G>A	c.(214-216)Gta>Ata	p.V72I		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	72										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCTCCCAGGGTATGGGGAGT	0.602000													13	43					0	0	0.001368	0	0
RGPD4	285190	broad.mit.edu	37	2	108489210	108489210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:108489210G>A	ENST00000408999.3	+	20	4827	c.4750G>A	c.(4750-4752)Gaa>Aaa	p.E1584K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1584K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1584					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAACAACAGTGAAACTAGTTC	0.368000													219	141					0	0	0.003610	0	0
SYCP1	6847	broad.mit.edu	37	1	115455695	115455695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115455695C>T	ENST00000369522.3	+	19	1811	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	SYCP1_ENST00000369518.1_Missense_Mutation_p.S524L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	524				LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAAGCTTTCACTAGAAAAC	0.313000													45	136					0	0	0.003610	0	0
NUP107	57122	broad.mit.edu	37	12	69136223	69136223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:69136223G>A	ENST00000229179.4	+	28	3091	c.2759G>A	c.(2758-2760)gGg>gAg	p.G920E	NUP107_ENST00000378905.2_Missense_Mutation_p.G681E|NUP107_ENST00000539906.1_Missense_Mutation_p.G891E	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	920					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACCCATTAGGGTATGAAATT	0.308000													20	48					0	0	0.002299	0	0
POU6F2	11281	broad.mit.edu	37	7	39246994	39246994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:39246994C>T	ENST00000518318.2	+	4	328	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	POU6F2_ENST00000559001.1_Missense_Mutation_p.L88F|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.L96F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	96					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTGCAGCCACTTCTGACGGC	0.532000													32	229					0	0	0.003271	0	0
MUC7	4589	broad.mit.edu	37	4	71347045	71347045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:71347045C>T	ENST00000413702.1	+	4	872	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MUC7_ENST00000456088.1_Missense_Mutation_p.P195L|MUC7_ENST00000304887.5_Missense_Mutation_p.P195L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	195	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCCACACCTTCTGCAACT	0.592000													31	73					0	0	0.002096	0	0
ARAP2	116984	broad.mit.edu	37	4	36069821	36069821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:36069821C>T	ENST00000303965.4	-	33	5312	c.4823G>A	c.(4822-4824)aGa>aAa	p.R1608K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1608					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATGGAAGCTCTCTCCTTTAA	0.473000													37	85					0	0	0.007835	0	0
CARD11	84433	broad.mit.edu	37	7	2946451	2946451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:2946451C>T	ENST00000396946.4	-	25	3689	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1096	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AACTCCTCCTCCGTCTCAGGT	0.677000			Mis		DLBCL								30	29					0	0	0.002096	0	0
RGAG1	57529	broad.mit.edu	37	X	109694786	109694786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:109694786C>T	ENST00000465301.2	+	3	1187	c.941C>T	c.(940-942)tCt>tTt	p.S314F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S314F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	314										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTAATGTCATCTCCAGGCTCT	0.493000													102	47					0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57395135	57395135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:57395135G>A	ENST00000543257.1	-	13	2128	c.1562C>T	c.(1561-1563)cCt>cTt	p.P521L	C8B_ENST00000371237.4_Missense_Mutation_p.P573L|C8B_ENST00000535057.1_Missense_Mutation_p.P511L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	573	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCCATTTTGAGGAGGTGGATT	0.488000													21	44					0	0	0.001882	0	0
TAAR5	9038	broad.mit.edu	37	6	132910798	132910798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132910798C>T	ENST00000258034.2	-	1	79	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	10					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGGTGCTCTTCAGCACCTTGG	0.493000													17	47					0	0	0.008871	0	0
DDX60	55601	broad.mit.edu	37	4	169227682	169227682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169227682C>T	ENST00000393743.3	-	5	745	c.454G>A	c.(454-456)Gat>Aat	p.D152N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	152							ATP binding|ATP-dependent helicase activity|RNA binding	p.D152N(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTGTAGATCGTTCAGGCCT	0.408000													27	53					0	0	0.004656	0	0
KCNC4	3749	broad.mit.edu	37	1	110766203	110766203	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110766203C>T	ENST00000369787.3	+	2	1323	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	KCNC4_ENST00000413138.3_Silent_p.V432V|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.V432V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	432					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGCTGTGGTCACCATGACGA	0.607000													44	96					0	0	0.003214	0	0
TMC5	79838	broad.mit.edu	37	16	19475337	19475337	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19475337C>T	ENST00000396229.2	+	8	2225	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TMC5_ENST00000561503.1_Silent_p.F133F|TMC5_ENST00000219821.5_Silent_p.F246F|TMC5_ENST00000564959.1_Silent_p.F175F|TMC5_ENST00000541464.1_Silent_p.F492F|TMC5_ENST00000542583.2_Silent_p.F492F|TMC5_ENST00000381414.4_Silent_p.F492F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	492						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGAGTTTTTCACTGGGGTGG	0.512000													13	38					0	0	0.003163	0	0
GPR31	2853	broad.mit.edu	37	6	167571113	167571113	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:167571113G>A	ENST00000366834.1	-	1	704	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	69						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGCGGCCAGGAAAGGCAGGC	0.657000													9	22					0	0	0.006214	0	0
BCL6B	255877	broad.mit.edu	37	17	6929856	6929856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:6929856G>A	ENST00000293805.5	+	6	1062	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	324						nucleus	zinc ion binding			skin(1)	1						TCCTGGGGACGAAGACAAACC	0.562000													48	47					0	0	0.003610	0	0
GABRA6	2559	broad.mit.edu	37	5	161119131	161119131	+	Silent	SNP	G	G	A	rs144044129		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:161119131G>A	ENST00000523217.1	+	8	1223	c.981G>A	c.(979-981)agG>agA	p.R327R	GABRA6_ENST00000274545.5_Silent_p.R337R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	337					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.R337R(1)		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)	AGGCCAAAAGGAAGGCACAGT	0.418000										TCGA Ovarian(5;0.080)			24	18					0	0	0.003330	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:10951345G>A	ENST00000298232.7	-	9	680	c.313C>T	c.(313-315)Cct>Tct	p.P105S	TPTE_ENST00000342420.5_Missense_Mutation_p.P85S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P123S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCCAAAGGAATATAAAGT	0.323000													24	103					0	0	0.006320	0	0
DSC3	1825	broad.mit.edu	37	18	28584168	28584168	+	Missense_Mutation	SNP	C	C	T	rs138482790		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28584168C>T	ENST00000434452.1	-	13	2207	c.2053G>A	c.(2053-2055)Gga>Aga	p.G685R	DSC3_ENST00000360428.4_Missense_Mutation_p.G685R	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	685	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGTATTACTCCTGTACTCCTT	0.373000													29	54					0	0	0.002836	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371841	19371841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:19371841C>T	ENST00000291481.7	-	3	328	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	89	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGGTCCACCACCTTTGTCCAC	0.682000													24	43					0	0	0.006320	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053711	95053711	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:95053711C>T	ENST00000329597.7	+	3	222	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SERPINA5_ENST00000553780.1_Silent_p.F4F|SERPINA5_ENST00000554276.1_Silent_p.F4F|SERPINA5_ENST00000554866.1_Silent_p.F4F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	4					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCAGCTCTTCCTCCTCTTGT	0.587000													38	38					0	0	0.002222	0	0
STAG3	10734	broad.mit.edu	37	7	99786472	99786472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:99786472C>T	ENST00000426455.1	+	7	955	c.548C>T	c.(547-549)tCc>tTc	p.S183F	STAG3_ENST00000317296.5_Missense_Mutation_p.S183F|STAG3_ENST00000394018.2_Missense_Mutation_p.S125F			Q9UJ98	STAG3_HUMAN	stromal antigen 3	183					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGGTCCATCCTGGAAGAAG	0.502000													37	71					0	0	0.007835	0	0
TELO2	9894	broad.mit.edu	37	16	1547053	1547053	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:1547053C>T	ENST00000262319.6	+	4	909	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	210						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGATTCCTCCGTGTCCTTCG	0.617000													16	20					0	0	0.004007	0	0
ATAD3C	219293	broad.mit.edu	37	1	1391169	1391169	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:1391169A>T	ENST00000378785.2	+	6	1433		c.e6-1			NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C								ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTCCTCGGCAGCCCAGCCTG	0.637000													9	24					0	0	0.006214	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21553046	21553046	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21553046G>A	ENST00000298694.4	+	18	4051	c.3924G>A	c.(3922-3924)ggG>ggA	p.G1308G	ARHGEF40_ENST00000298693.3_Silent_p.G1308G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1308	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCCCTGAAGGGGGGTCAGAGA	0.512000													37	105					0	0	0.002222	0	0
KCNT2	343450	broad.mit.edu	37	1	196227595	196227595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196227595C>T	ENST00000367433.5	-	25	2969	c.2868G>A	c.(2866-2868)tgG>tgA	p.W956*	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.W914*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.W980*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	980						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGGTGTCTTCCCACTCTTCTA	0.388000													40	85					0	0	0.002222	0	0
OR4K14	122740	broad.mit.edu	37	14	20482649	20482649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20482649G>A	ENST00000305045.2	-	1	703	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GAGTGCTTTGGATGTGCTACC	0.507000													13	15					0	0	0.001368	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111506681	111506681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:111506681G>A	ENST00000261486.5	-	19	1907	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	544						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGGATATCGGGGCTTCTCCT	0.333000													20	47					0	0	0.001882	0	0
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:125316096C>T	ENST00000373688.2	+	1	706	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGCTGATGATCATCACCATGG	0.502000													39	54					0	0	0.008740	0	0
ALK	238	broad.mit.edu	37	2	29498286	29498286	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:29498286G>A	ENST00000389048.3	-	10	2800	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	632	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TAGCAGTCCAGGCTGATGGAG	0.562000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				22	13					0	0	0.001882	0	0
MYO18B	84700	broad.mit.edu	37	22	26299723	26299723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:26299723G>A	ENST00000335473.7	+	31	5323	c.5073G>A	c.(5071-5073)tgG>tgA	p.W1691*	MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000407587.2_Nonsense_Mutation_p.W1692*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.W1691*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1691	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGGCTCTGGAAGTTGGAAT	0.552000													5	13					0	0	0.000602	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028276	45028276	+	RNA	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:45028276A>C	ENST00000454753.1	-	0	493							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCTGACTGCAATGGAGGGTTT	0.522000													105	273					0	0	0.003610	0	0
FAP	2191	broad.mit.edu	37	2	163044759	163044759	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:163044759A>C	ENST00000188790.4	-	20	1941	c.1734T>G	c.(1732-1734)gcT>gcG	p.A578A	FAP_ENST00000443424.1_Silent_p.A553A	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	578					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACCTTGGAAAGCTGTTCCTC	0.443000													77	34					0	0	0.003610	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72500919	72500919	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:72500919G>A	ENST00000373208.1	+	12	1933		c.e12+1		ADAMTS14_ENST00000373207.1_Splice_Site	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14						collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGACGATGGTGAGTGGGCC	0.627000													8	12					0	0	0.006214	0	0
ASTN2	23245	broad.mit.edu	37	9	119202920	119202920	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:119202920G>A	ENST00000313400.4	-	22	3850	c.3750C>T	c.(3748-3750)ttC>ttT	p.F1250F	ASTN2_ENST00000341734.4_Silent_p.F302F|ASTN2_ENST00000373996.3_Silent_p.F1246F|ASTN2_ENST00000288520.5_Silent_p.F351F|ASTN2_ENST00000361477.3_Silent_p.F302F|ASTN2_ENST00000361209.2_Silent_p.F1199F			O75129	ASTN2_HUMAN	astrotactin 2	1250						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTCTCCAGACGAAGTCGCCAA	0.512000													19	29					0	0	0.001523	0	0
TBC1D32	221322	broad.mit.edu	37	6	121412005	121412005	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:121412005G>A	ENST00000275159.6	-	32	3770	c.3771C>T	c.(3769-3771)ttC>ttT	p.F1257F	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.F1216F					TBC1 domain family, member 32																		TTACTTTTAGGAAAACTTGCA	0.333000													31	83					0	0	0.002445	0	0
PHF1	5252	broad.mit.edu	37	6	33383373	33383373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:33383373C>T	ENST00000374512.3	+	13	1506	c.1235C>T	c.(1234-1236)cCa>cTa	p.P412L	PHF1_ENST00000374516.3_Silent_p.P447P	NM_002636.4	NP_002627.1	O43189	PHF1_HUMAN	PHD finger protein 1	490					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P447P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCAGCAGCCCCATCCGGATGT	0.587000													39	116					0	0	0.002222	0	0
CLVS2	134829	broad.mit.edu	37	6	123376999	123376999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:123376999C>T	ENST00000275162.4	+	5	2059	c.724C>T	c.(724-726)Cct>Tct	p.P242S	CLVS2_ENST00000368438.1_Missense_Mutation_p.P96S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	242	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTAATTCATCCTGAGATCCT	0.443000													25	67					0	0	0.008361	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602925	13602925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:13602925C>T	ENST00000040738.5	-	10	5734	c.5599G>A	c.(5599-5601)Ggg>Agg	p.G1867R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1867							DNA binding										ACATCCTCCCCTTCCTCGTCT	0.463000													29	61					0	0	0.006320	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526843	35526843	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:35526843C>T	ENST00000262878.4	-	14	1807	c.1608_splice	c.e14+1	p.Q536_splice		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	536					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AAGTAGTTACCTGGTTTTTAG	0.323000													31	74					0	0	0.008361	0	0
FAR2P3	100288897	broad.mit.edu	37	2	131459903	131459903	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131459903C>T	ENST00000425151.1	+	0	430																											CTGATTTCACCACAAGCAACT	0.473000													6	2					0	0	0.004482	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136952	40136952	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:40136952A>T	ENST00000278198.2	-	2	2854	c.891T>A	c.(889-891)caT>caA	p.H297Q	LRRC4C_ENST00000528697.1_Missense_Mutation_p.H297Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H297Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H297Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	297					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGATGTAAATGTATCCGCT	0.473000													35	71					0	0	0.004289	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132994	91132994	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:91132994G>A	ENST00000373094.1	+	2	2600	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	PCDH11X_ENST00000373088.1_Silent_p.R585R|PCDH11X_ENST00000395337.2_Silent_p.R585R|PCDH11X_ENST00000406881.1_Silent_p.R585R|PCDH11X_ENST00000361724.1_Silent_p.R585R|PCDH11X_ENST00000373097.1_Silent_p.R585R|PCDH11X_ENST00000504220.1_Silent_p.R585R|PCDH11X_ENST00000298274.8_Silent_p.R585R|PCDH11X_ENST00000361655.2_Silent_p.R585R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	585	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTTCCAAGGCATGGTACAG	0.393000													27	7					0	0	0.002096	0	0
DNHD1	144132	broad.mit.edu	37	11	6519925	6519925	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6519925C>T	ENST00000254579.6	+	3	1044	c.480C>T	c.(478-480)ccC>ccT	p.P160P	DNHD1_ENST00000527990.2_Silent_p.P160P|DNHD1_ENST00000354685.3_Silent_p.P160P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	160					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCACAGGCCCCCATGCCCAG	0.592000													65	135					0	0	0.003610	0	0
PSG3	5671	broad.mit.edu	37	19	43243169	43243169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:43243169G>A	ENST00000327495.5	-	2	321	c.137C>T	c.(136-138)tCc>tTc	p.S46F	PSG3_ENST00000595140.1_Missense_Mutation_p.S46F|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	46	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTCCCCTTGGAAACTTTGGT	0.463000													55	147					0	0	0.003610	0	0
KERA	11081	broad.mit.edu	37	12	91449866	91449866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:91449866C>T	ENST00000266719.3	-	2	440	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	65	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCAGGAATTTCTTTGAGACCT	0.388000													21	43					0	0	0.001523	0	0
DST	667	broad.mit.edu	37	6	56482831	56482831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:56482831C>T	ENST00000370765.6	-	23	6108	c.6001G>A	c.(6001-6003)Gat>Aat	p.D2001N	DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1402					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.D2001Y(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATGCGTTATCTTGATACCTA	0.403000													39	71					0	0	0.008740	0	0
OR51B2	79345	broad.mit.edu	37	11	5344895	5344895	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5344895G>A	ENST00000328813.2	-	1	687	c.633C>T	c.(631-633)atC>atT	p.I211I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAGAGGATGATCAGACAGT	0.388000													10	20					0	0	0.006214	0	0
DDX60	55601	broad.mit.edu	37	4	169189063	169189063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169189063C>T	ENST00000393743.3	-	21	3149	c.2858G>A	c.(2857-2859)aGa>aAa	p.R953K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	953							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCCACATGTCTTTTAGAAGC	0.323000													22	47					0	0	0.001523	0	0
BMP3	651	broad.mit.edu	37	4	81966934	81966934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:81966934C>T	ENST00000282701.2	+	2	679	c.359C>T	c.(358-360)tCg>tTg	p.S120L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	120					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AATCTGACATCGCTAACCAAG	0.398000													31	55					0	0	0.004289	0	0
MUC5B	727897	broad.mit.edu	37	11	1267455	1267455	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:1267455G>A	ENST00000447027.1	+	31	9412	c.9354G>A	c.(9352-9354)acG>acA	p.T3118T	MUC5B_ENST00000529681.1_Silent_p.T3115T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3115	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGCCACCACGACAAGGGCCA	0.622000													17	42					0	0	0.004990	0	0
KCNA1	3736	broad.mit.edu	37	12	5021486	5021486	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:5021486C>T	ENST00000382545.3	+	2	2049	c.942C>T	c.(940-942)atC>atT	p.I314I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	314					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTCCAGATCCTGGGCCAGA	0.547000													20	40					0	0	0.005443	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760567	176760567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:176760567C>T	ENST00000367662.3	+	19	6133	c.4969C>T	c.(4969-4971)Ccc>Tcc	p.P1657S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1657	Poly-Pro.|Sushi 5.		P -> R (in dbSNP:rs34602579).		cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCACCACCCCCCTCAGAGCT	0.428000													22	68					0	0	0.003330	0	0
PAK7	57144	broad.mit.edu	37	20	9538374	9538374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9538374C>T	ENST00000378429.3	-	8	2170	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	PAK7_ENST00000378423.1_Missense_Mutation_p.E542K|PAK7_ENST00000353224.5_Missense_Mutation_p.E542K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	542	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTTCTTCATTCATTCTG	0.413000													18	38					0	0	0.007413	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950843	14950843	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:14950843C>G	ENST00000453695.2	-	14	1727	c.1283G>C	c.(1282-1284)aGt>aCt	p.S428T	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S433T|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S433T|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.S548T|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S433T|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.S201T	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	548					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCAGCCTTGACTTCCTTGTTC	0.443000								Non-homologous end-joining					27	30					0	0	0.007291	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871725	63871725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:63871725C>T	ENST00000334025.2	+	3	783	c.457C>T	c.(457-459)Cga>Tga	p.R153*	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	153					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.R153*(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TCAGTTTCATCGAAAAGGTAT	0.393000													43	25					0	0	0.003610	0	0
ABCC8	6833	broad.mit.edu	37	11	17482080	17482080	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:17482080C>T	ENST00000302539.4	-	6	1091	c.966G>A	c.(964-966)ggG>ggA	p.G322G	ABCC8_ENST00000389817.3_Silent_p.G322G	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	322	ABC transmembrane type-1 1.				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)	GGTCCACGATCCCAAAGATGC	0.607000													90	247					0	0	0.003610	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600318	41600318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:41600318G>A	ENST00000330436.3	+	7	1142	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	381					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACCAAGTTTCGGGATTTCTTC	0.557000													17	38					0	0	0.004990	0	0
PRKCE	5581	broad.mit.edu	37	2	46237593	46237593	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:46237593G>A	ENST00000306156.3	+	10	1701	c.1374G>A	c.(1372-1374)agG>agA	p.R458R	PRKCE_ENST00000394874.1_Silent_p.R181R	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	458	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGAGAAGAGGATTTTGGCTC	0.493000													60	25					0	0	0.003610	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510860	119510860	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:119510860G>A	ENST00000368468.3	-	10	1956	c.1515C>T	c.(1513-1515)gcC>gcT	p.A505A		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	505					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GACAAGTACGGGCAATTTCAG	0.483000													46	86					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28720107	28720107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28720107G>A	ENST00000257197.3	-	10	1679	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P473L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	473	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCACTGGAGGGTGGCATTC	0.473000													23	68					0	0	0.003954	0	0
HSF5	124535	broad.mit.edu	37	17	56557419	56557419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:56557419G>A	ENST00000323777.3	-	2	869	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	254						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGGAAACGGAACCCCTTTA	0.473000													52	116					0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172424	207172424	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:207172424C>G	ENST00000374423.3	+	5	3558	c.3172C>G	c.(3172-3174)Cta>Gta	p.L1058V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1058							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCAACCTCAACTAGCTTTTTT	0.333000													50	28					0	0	0.003610	0	0
DPYD	1806	broad.mit.edu	37	1	98058913	98058913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:98058913G>A	ENST00000370192.3	-	10	1089	c.989C>T	c.(988-990)tCg>tTg	p.S330L		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	330					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCCCCGTATCGATGGCAATGG	0.478000													32	71					0	0	0.003755	0	0
RCAN3	11123	broad.mit.edu	37	1	24861718	24861718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:24861718C>T	ENST00000374395.4	+	5	990	c.677C>T	c.(676-678)cCt>cTt	p.P226L	RCAN3_ENST00000412742.2_Missense_Mutation_p.L169F|RCAN3_ENST00000374393.2_Missense_Mutation_p.L111F|RCAN3_ENST00000436717.2_Missense_Mutation_p.P216L|RCAN3_ENST00000538532.1_Missense_Mutation_p.P168L	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	226					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CGCCCCGACCCTCCGACCGCA	0.587000													15	32					0	0	0.004990	0	0
AFF4	27125	broad.mit.edu	37	5	132270167	132270167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:132270167G>A	ENST00000265343.5	-	3	969	c.590C>T	c.(589-591)tCt>tTt	p.S197F	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.S197F	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	197	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCATGAGACCTGGAATG	0.478000													4	60					0	0	0.000248	0	0
ZG16B	124220	broad.mit.edu	37	16	2880726	2880726	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:2880726C>T	ENST00000382280.3	+	3	271	c.192C>T	c.(190-192)ttC>ttT	p.F64F	ZG16B_ENST00000572863.1_Silent_p.F34F	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	64						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GCAAGTATTTCAGCACCACTG	0.527000													59	111					0	0	0.003610	0	0
TADA2A	6871	broad.mit.edu	37	17	35830620	35830620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:35830620C>T	ENST00000394395.2	+	13	1185	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	TADA2A_ENST00000225396.6_Missense_Mutation_p.R338C|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	338					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GCAGTGGCTCCGCCGGCAAGC	0.512000													40	86					0	0	0.008740	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213868	3213868	+	RNA	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:3213868C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							TGAGCCATTTCATATCCAACG	0.542000													14	62					0	0	0.004007	0	0
UBR5	51366	broad.mit.edu	37	8	103340049	103340049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:103340049G>A	ENST00000520539.1	-	12	2008	c.1402C>T	c.(1402-1404)Ctt>Ttt	p.L468F	UBR5_ENST00000220959.4_Missense_Mutation_p.L468F|UBR5_ENST00000521922.1_Missense_Mutation_p.L462F	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	468					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTCCTTGAAGTTCAGAGTAA	0.408000													27	49					0	0	0.008361	0	0
SEZ6	124925	broad.mit.edu	37	17	27296881	27296881	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:27296881G>A	ENST00000317338.12	-	4	1376	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SEZ6_ENST00000335960.6_Silent_p.F316F|SEZ6_ENST00000442608.3_Silent_p.F316F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.F316F			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	316						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCCGCAGCAGGAAAGACTGGT	0.647000													9	24					0	0	0.004482	0	0
OR6C75	390323	broad.mit.edu	37	12	55758919	55758919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:55758919G>A	ENST00000343399.3	+	1	25	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGCAGTAACAGACTTTATTCT	0.353000													44	82					0	0	0.003610	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181159	19181159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:19181159C>T	ENST00000375371.3	-	3	826	c.805G>A	c.(805-807)Gcg>Acg	p.A269T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	269					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACGACGCGCGCTGTGCTCTGC	0.622000													13	23					0	0	0.002450	0	0
DCAF5	8816	broad.mit.edu	37	14	69521511	69521511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:69521511G>A	ENST00000341516.5	-	9	2039	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L	DCAF5_ENST00000557386.1_Missense_Mutation_p.S630L|DCAF5_ENST00000556847.1_Missense_Mutation_p.S549L|DCAF5_ENST00000554215.1_Missense_Mutation_p.S549L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	631						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTCAGGGGACGAGGTTGGGGA	0.493000													40	73					0	0	0.008740	0	0
GPR108	56927	broad.mit.edu	37	19	6733259	6733259	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:6733259G>A	ENST00000264080.7	-	9	803	c.777C>T	c.(775-777)ccC>ccT	p.P259P	GPR108_ENST00000430424.4_Silent_p.P17P	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	259						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCTTGAAAAGGGGCATCTCCG	0.647000													26	46					0	0	0.008361	0	0
POU6F2	11281	broad.mit.edu	37	7	39379586	39379586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:39379586C>T	ENST00000518318.2	+	5	899	c.857C>T	c.(856-858)tCa>tTa	p.S286L	POU6F2_ENST00000559001.1_Missense_Mutation_p.S278L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S286L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	286	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCTGCCTTCACCGCTCACG	0.617000													63	46					0	0	0.003610	0	0
IRF8	3394	broad.mit.edu	37	16	85952177	85952177	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:85952177C>T	ENST00000268638.5	+	7	1178	c.756C>T	c.(754-756)ttC>ttT	p.F252F	IRF8_ENST00000562492.1_Silent_p.F48F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	252					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGGTGCGCTTCCCGCCGGCCG	0.736000													11	29					0	0	0.008291	0	0
THBS4	7060	broad.mit.edu	37	5	79372803	79372803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:79372803C>T	ENST00000350881.2	+	16	2208	c.2018C>T	c.(2017-2019)cCa>cTa	p.P673L	THBS4_ENST00000511733.1_Missense_Mutation_p.P582L|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	673					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGGTATCCCAGACCTGGTG	0.567000													56	85					0	0	0.003610	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598324	46598324	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:46598324G>A	ENST00000398637.5	-	10	1390	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLC38A1_ENST00000549049.1_Silent_p.F232F|SLC38A1_ENST00000439706.1_Silent_p.F232F|SLC38A1_ENST00000552197.1_Silent_p.F232F|SLC38A1_ENST00000546893.1_Silent_p.F232F|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	232					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCACAATTAGGAAAAAAACCA	0.289000													71	135					0	0	0.003610	0	0
BNIPL	149428	broad.mit.edu	37	1	151011442	151011442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:151011442G>A	ENST00000295294.7	+	4	736	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	BNIPL_ENST00000368931.3_Missense_Mutation_p.E125K	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	125					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGATAGACGAATTGGAGAC	0.527000													47	78					0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62951228	62951228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:62951228C>T	ENST00000403374.2	-	6	697	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.E298K|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	298					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TTTCTAAGTTCCTTTAAGCCC	0.498000													65	108					0	0	0.003610	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13928350	13928350	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:13928350G>A	ENST00000602743.1	-	0	224																											TCCAGCCAAGGACCAGACCAA	0.602000													12	10					0	0	0.004007	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:87738864G>A	ENST00000320005.5	-	3	280	c.233C>T	c.(232-234)tCc>tTc	p.S78F	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	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													86	203					0	0	0.003610	0	0
OR4N4	283694	broad.mit.edu	37	15	22382823	22382823	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:22382823G>A	ENST00000328795.4	+	1	442	c.351G>A	c.(349-351)gtG>gtA	p.V117V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTTGTTGTGATGGCCTTTG	0.507000													17	103					0	0	0.002780	0	0
TEX264	51368	broad.mit.edu	37	3	51718650	51718650	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:51718650G>A	ENST00000415259.1	+	3	1561	c.480_splice	c.e3+1	p.K160_splice	TEX264_ENST00000457573.1_Splice_Site_p.K160_splice|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000416589.1_Splice_Site_p.K160_splice|TEX264_ENST00000395057.1_Splice_Site_p.K160_splice|TEX264_ENST00000341333.5_Splice_Site_p.K160_splice			Q9Y6I9	TX264_HUMAN	testis expressed 264	160						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CCTACATCAAGGTGAGGCACA	0.602000													5	13					0	0	0.001984	0	0
MAST1	22983	broad.mit.edu	37	19	12975890	12975890	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12975890G>A	ENST00000251472.4	+	14	1575	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	512	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						GTCACATCAAGCTCACAGATT	0.572000													21	85					0	0	0.001882	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343871	43343871	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:43343871G>A	ENST00000344686.2	-	0	2684				MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCTGCCACGGGGACTGCTGA	0.607000													48	95					0	0	0.003610	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416259	57416259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:57416259C>T	ENST00000565912.1	+	2	3101	c.395C>T	c.(394-396)cCc>cTc	p.P132L	CX3CL1_ENST00000006053.6_Missense_Mutation_p.P170L|CX3CL1_ENST00000563383.1_Missense_Mutation_p.P176L|CX3CL1_ENST00000564948.1_3'UTR			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	170	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACCAGGCTCCCCCCGACGCCA	0.677000													29	39					0	0	0.001786	0	0
MUC16	94025	broad.mit.edu	37	19	9065317	9065317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9065317C>T	ENST00000397910.4	-	3	22332	c.22129G>A	c.(22129-22131)Gat>Aat	p.D7377N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7379	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						CGTGGCACATCCCCAGCACCT	0.507000													10	23					0	0	0.008291	0	0
HUWE1	10075	broad.mit.edu	37	X	53616539	53616539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:53616539G>A	ENST00000342160.3	-	35	4886	c.4429C>T	c.(4429-4431)Cgt>Tgt	p.R1477C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1477C|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1477C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1477					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCATGTCACGATAATCTGCT	0.483000													58	42					0	0	0.003610	0	0
ELF2	1998	broad.mit.edu	37	4	139993183	139993183	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:139993183A>C	ENST00000379550.1	-	5	568	c.363T>G	c.(361-363)ttT>ttG	p.F121L	ELF2_ENST00000394235.2_Intron|ELF2_ENST00000510408.1_Intron|ELF2_ENST00000358635.3_Missense_Mutation_p.F61L|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.F61L			Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	121					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					AAGGAGGAACAAACACTTCCA	0.393000													19	67					0	0	0.002299	0	0
MASP1	5648	broad.mit.edu	37	3	187003811	187003811	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:187003811G>A	ENST00000337774.5	-	2	428	c.39C>T	c.(37-39)tcC>tcT	p.S13S	MASP1_ENST00000392472.2_Intron|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_5'UTR|MASP1_ENST00000296280.6_Silent_p.S13S|MASP1_ENST00000169293.6_Silent_p.S13S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	13					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTTTGACAGGGAGAAGCACA	0.473000													17	24					0	0	0.008871	0	0
SLFN11	91607	broad.mit.edu	37	17	33679437	33679437	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33679437G>A	ENST00000394566.1	-	7	2916	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L	SLFN11_ENST00000308377.4_Silent_p.L882L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	882						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGACAGATCAGAACATTGGGT	0.463000													54	134					0	0	0.003610	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122588	43122588	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:43122588G>A	ENST00000344697.2	-	2	681	c.336C>T	c.(334-336)ttC>ttT	p.F112F	GTDC2_ENST00000441964.1_Silent_p.F112F	NM_032806.4	NP_116195.2																					GGGCTGGCTGGAAGCGCCGGG	0.602000													24	47					0	0	0.002299	0	0
LRP1	4035	broad.mit.edu	37	12	57591968	57591968	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:57591968C>T	ENST00000243077.3	+	59	9778	c.9312C>T	c.(9310-9312)ccC>ccT	p.P3104P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3104					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCAGCAACCCCGATGGGCTGG	0.647000													12	13					0	0	0.001855	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756405	94756405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94756405C>T	ENST00000554723.1	-	2	1064	c.646G>A	c.(646-648)Gag>Aag	p.E216K	SERPINA10_ENST00000393096.1_Missense_Mutation_p.E176K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E176K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E176K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	176					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGAAAGTCTCTTTGACATCA	0.453000													27	43					0	0	0.006320	0	0
ITGA2	3673	broad.mit.edu	37	5	52379186	52379186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:52379186C>T	ENST00000296585.5	+	27	3304	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1054					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGAACTGCTTCCTGTAGTAAT	0.343000													17	40					0	0	0.004007	0	0
ZMYM4	9202	broad.mit.edu	37	1	35851684	35851684	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:35851684T>C	ENST00000314607.6	+	11	1810	c.1730T>C	c.(1729-1731)gTt>gCt	p.V577A	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	577					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTGTACAAGTTCAGTGTAAC	0.338000													38	65					0	0	0.006230	0	0
C8orf33	65265	broad.mit.edu	37	8	146278518	146278518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:146278518C>T	ENST00000331434.6	+	3	503	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	130										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AGGCAGAAACCCACCCCGAAA	0.572000													20	56					0	0	0.008871	0	0
EXOSC10	5394	broad.mit.edu	37	1	11158200	11158200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11158200G>A	ENST00000544779.1	-	2	130	c.125C>T	c.(124-126)tCc>tTc	p.S42F	EXOSC10_ENST00000304457.7_Missense_Mutation_p.S42F|EXOSC10_ENST00000376936.4_Missense_Mutation_p.S42F			Q01780	EXOSX_HUMAN	exosome component 10	42					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGCCACCACGGACCCAAGAGC	0.438000													18	54					0	0	0.006122	0	0
OR2A5	393046	broad.mit.edu	37	7	143747613	143747613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143747613G>A	ENST00000408906.2	+	1	153	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACCCTGCTGGGAAATGGGGCC	0.512000													30	62					0	0	0.008361	0	0
PCDH19	57526	broad.mit.edu	37	X	99657804	99657804	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:99657804C>A	ENST00000373034.4	-	3	4009	c.2334G>T	c.(2332-2334)aaG>aaT	p.K778N	PCDH19_ENST00000255531.7_Missense_Mutation_p.K731N|PCDH19_ENST00000420881.2_Missense_Mutation_p.K731N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	778					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGATTTTTTTCTTCTTGCTTG	0.463000													11	7					0.00010058	0.000120394	0.001368	1	0
RNF214	257160	broad.mit.edu	37	11	117152757	117152757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:117152757C>T	ENST00000530849.1	+	10	1028	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	RNF214_ENST00000531287.1_Nonsense_Mutation_p.Q340*|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Nonsense_Mutation_p.Q495*|RNF214_ENST00000300650.4_Nonsense_Mutation_p.Q495*			Q8ND24	RN214_HUMAN	ring finger protein 214	495							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGCCCTTTCCCAGCCCAGCCA	0.612000													82	60					0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71508455	71508455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:71508455G>A	ENST00000396073.3	+	9	1593	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	438					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAATCCAAAGGAGAAGCCCCT	0.443000													17	33					0	0	0.004990	0	0
PCK2	5106	broad.mit.edu	37	14	24569335	24569335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:24569335G>A	ENST00000545054.2	+	7	1663	c.745G>A	c.(745-747)Gat>Aat	p.D249N	PCK2_ENST00000396973.4_Missense_Mutation_p.D383N|PCK2_ENST00000559250.1_Missense_Mutation_p.D395N|PCK2_ENST00000558096.1_Missense_Mutation_p.D249N|PCK2_ENST00000561286.1_Missense_Mutation_p.D249N|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.D383N			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	383					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGAGACCAGTGATGGTGGCGT	0.552000													21	38					0	0	0.002299	0	0
FBXO40	51725	broad.mit.edu	37	3	121340695	121340695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:121340695C>T	ENST00000338040.4	+	3	833	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	140					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTTCAGATCCTTGAAAATG	0.493000													15	16					0	0	0.004990	0	0
GRAMD4	23151	broad.mit.edu	37	22	47058961	47058961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:47058961C>T	ENST00000406902.1	+	6	704	c.491C>T	c.(490-492)tCg>tTg	p.S164L	GRAMD4_ENST00000361034.3_Missense_Mutation_p.S164L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	164					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGGCTGTCCTCGCGCCTGCAG	0.672000													25	43					0	0	0.005443	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024572	16024572	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:16024572C>T	ENST00000402119.3	-	12	1971	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	CYP4F11_ENST00000248041.7_Silent_p.R515R|CYP4F11_ENST00000326742.7_3'UTR	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	515					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R515R(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGGCTCCACCCGCAGCCAAA	0.607000													7	11					0	0	0.003080	0	0
AMICA1	120425	broad.mit.edu	37	11	118074226	118074226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:118074226C>T	ENST00000292067.7	-	5	1100	c.659G>A	c.(658-660)gGa>gAa	p.G220E	AMICA1_ENST00000533261.1_Missense_Mutation_p.G219E|AMICA1_ENST00000526620.1_Missense_Mutation_p.G191E|AMICA1_ENST00000356289.5_Missense_Mutation_p.G230E	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	230	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTGTAGTTTCCTCCATCTGA	0.517000													59	74					0	0	0.003610	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3806072	3806072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:3806072G>A	ENST00000440314.2	-	4	567	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.P32S|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.P32S	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	32					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGTCCAGGGGATGCAGGCAG	0.612000													13	28					0	0	0.001855	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871368	57871368	+	Silent	SNP	G	G	A	rs148589826		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:57871368G>A	ENST00000393797.2	-	7	1035	c.843C>T	c.(841-843)tgC>tgT	p.C281C	ARHGAP9_ENST00000393791.3_Silent_p.C210C|ARHGAP9_ENST00000356411.2_Silent_p.C210C|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Silent_p.C210C|ARHGAP9_ENST00000550288.1_Silent_p.C289C|ARHGAP9_ENST00000430041.2_Silent_p.C26C			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	210					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCAGCAGGGGGCATGCAGGGC	0.642000													32	50					0	0	0.002445	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965114	42965114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:42965114C>T	ENST00000399770.2	+	2	590	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	197	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAAGCTCCTTCCCTCCCTGTT	0.433000													122	246					0	0	0.003610	0	0
GON4L	54856	broad.mit.edu	37	1	155784200	155784200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:155784200G>A	ENST00000437809.1	-	9	1324	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	GON4L_ENST00000361040.5_Missense_Mutation_p.P401L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.P401L|GON4L_ENST00000271883.5_Missense_Mutation_p.P401L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	401					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCCCCACGTGGAGATGAAGC	0.413000													32	137					0	0	0.003271	0	0
ADRB1	153	broad.mit.edu	37	10	115804217	115804217	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:115804217T>G	ENST00000369295.2	+	1	412	c.326T>G	c.(325-327)cTg>cGg	p.L109R		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	109					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GTCATGGGGCTGCTGGTGGTG	0.652000													30	39					0	0	0.002096	0	0
MTMR3	8897	broad.mit.edu	37	22	30394825	30394825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:30394825C>T	ENST00000333027.3	+	8	864	c.536C>T	c.(535-537)tCc>tTc	p.S179F	MTMR3_ENST00000406629.1_Missense_Mutation_p.S179F|MTMR3_ENST00000401950.2_Missense_Mutation_p.S179F|MTMR3_ENST00000323630.5_Missense_Mutation_p.S43F|MTMR3_ENST00000351488.3_Missense_Mutation_p.S179F	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	179	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGAGGATTTCCAACATCAAT	0.448000													12	13					0	0	0.000978	0	0
BVES	11149	broad.mit.edu	37	6	105577305	105577305	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:105577305G>A	ENST00000314641.5	-	3	516	c.300C>T	c.(298-300)ttC>ttT	p.F100F	BVES_ENST00000446408.2_Silent_p.F100F|BVES_ENST00000336775.5_Silent_p.F100F	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	100					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGACACCCAAGAACACAGAGT	0.358000													46	74					0	0	0.003214	0	0
CD163L1	283316	broad.mit.edu	37	12	7520754	7520754	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7520754A>C	ENST00000313599.3	-	17	4169	c.4112T>G	c.(4111-4113)cTt>cGt	p.L1371R	CD163L1_ENST00000396630.1_Missense_Mutation_p.L1371R|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1381R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1371						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AACCAGGAGAAGGAGCCCAAA	0.373000													16	40					0	0	0.004990	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898837	130898837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:130898837C>T	ENST00000261655.4	-	14	2648	c.2485G>A	c.(2485-2487)Gac>Aac	p.D829N		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	829						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)		GAAAGGCGGTCTCGCCCGTAA	0.567000													36	72					0	0	0.003610	0	0
PATL1	219988	broad.mit.edu	37	11	59415331	59415331	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:59415331C>G	ENST00000300146.9	-	15	1873	c.1789G>C	c.(1789-1791)Gtt>Ctt	p.V597L		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	597	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATACGGGCAACCATTCTCTTC	0.453000													8	26					0	0	0.003080	0	0
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:42299711C>T	ENST00000396169.2	-	5	1132	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_ENST00000334681.5_Missense_Mutation_p.R76Q|CCK_ENST00000434608.1_Missense_Mutation_p.R76Q	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517000													30	56					0	0	0.006230	0	0
ITGA11	22801	broad.mit.edu	37	15	68608005	68608005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:68608005C>T	ENST00000423218.2	-	22	2871	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	ITGA11_ENST00000315757.7_Missense_Mutation_p.E926K			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	926					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCAGCGAGCTCGATCTCCAGG	0.587000													4	20					0	0	0.001984	0	0
MUC6	4588	broad.mit.edu	37	11	1027319	1027319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:1027319C>T	ENST00000421673.2	-	17	2230	c.2180G>A	c.(2179-2181)gGt>gAt	p.G727D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	727					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAACTTGTAACCCTCCAGTAT	0.662000													76	144					0	0	0.003610	0	0
SLC10A1	6554	broad.mit.edu	37	14	70252859	70252859	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:70252859G>A	ENST00000216540.4	-	2	655	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	174					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ATTTGAGGACGATCCCTATGG	0.473000													47	74					0	0	0.003610	0	0
TTC22	55001	broad.mit.edu	37	1	55266437	55266437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:55266437C>T	ENST00000371276.4	-	1	503	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TTC22_ENST00000371274.4_Missense_Mutation_p.E134K	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	134							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCGGGCTCCTCTGCCAGGCCC	0.731000													3	6					0	0	0.004672	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36226075	36226075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:36226075G>A	ENST00000258840.6	-	7	977	c.587C>T	c.(586-588)cCa>cTa	p.P196L	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P196L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P196L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P196L|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	196					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGATTGTGGGGGGACAAG	0.318000													24	65					0	0	0.002096	0	0
OR5B17	219965	broad.mit.edu	37	11	58125748	58125748	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58125748G>A	ENST00000357377.3	-	1	794	c.795C>T	c.(793-795)tcC>tcT	p.S265S		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGTCCATGGAATGACTGG	0.403000													26	53					0	0	0.003330	0	0
DCHS2	54798	broad.mit.edu	37	4	155155886	155155886	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:155155886C>T	ENST00000357232.3	-	25	8552	c.8553G>A	c.(8551-8553)ccG>ccA	p.P2851P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2851					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGGTGTTTCGGAGGCACCT	0.527000													45	94					0	0	0.002522	0	0
HPN	3249	broad.mit.edu	37	19	35551285	35551285	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:35551285C>T	ENST00000262626.2	+	8	1314	c.489C>T	c.(487-489)atC>atT	p.I163I	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Silent_p.I163I	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	163	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TGGACCGCATCGTGGGAGGCC	0.692000													24	43					0	0	0.004656	0	0
SACS	26278	broad.mit.edu	37	13	23914341	23914341	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:23914341A>G	ENST00000382298.3	-	10	4262	c.3674T>C	c.(3673-3675)tTa>tCa	p.L1225S	SACS_ENST00000402364.1_Missense_Mutation_p.L475S|SACS_ENST00000382292.3_Missense_Mutation_p.L1225S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1225					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		aaagtgttttaagacagcact	0.358000													6	7					0	0	0.001168	0	0
TRAJ18	28737	broad.mit.edu	37	14	22994658	22994658	+	RNA	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22994658A>C	ENST00000390519.1	+	0	39																											ATACTTTGGAAGAGGAACTCA	0.488000													24	78					0	0	0.005443	0	0
ZNF511	118472	broad.mit.edu	37	10	135122932	135122932	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:135122932G>A	ENST00000359035.3	+	2	195	c.192G>A	c.(190-192)gtG>gtA	p.V64V	ZNF511_ENST00000368554.4_5'UTR|ZNF511_ENST00000361518.5_Silent_p.V64V			Q8NB15	ZN511_HUMAN	zinc finger protein 511	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TCCAGGACGTGATCATGCAGG	0.682000													7	7					0	0	0.006214	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096235	41096235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:41096235C>T	ENST00000291842.5	+	16	1724	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.R534W	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	559						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCGGCTCTCGGCCCCGGCG	0.711000													5	16					0	0	0.001168	0	0
MSR1	4481	broad.mit.edu	37	8	16012593	16012593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:16012593C>T	ENST00000350896.3	-	6	1075	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	MSR1_ENST00000355282.2_Missense_Mutation_p.R293Q|MSR1_ENST00000445506.2_Missense_Mutation_p.R311Q|MSR1_ENST00000262101.5_Missense_Mutation_p.R293Q|MSR1_ENST00000381998.4_Missense_Mutation_p.R293Q|MSR1_ENST00000536385.1_Missense_Mutation_p.R67Q	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	293	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGGAAATCCTCGTGGACCACT	0.418000													9	43					0	0	0.006214	0	0
PADI3	51702	broad.mit.edu	37	1	17588688	17588688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:17588688C>T	ENST00000375460.3	+	3	374	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	112					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGTGCTCTACCTCACCTGTGT	0.498000													6	21					0	0	0.001984	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886084	70886084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:70886084C>T	ENST00000333538.5	+	5	1589	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	319	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCCTTCTCTCCCCATCAGGTC	0.612000													15	20					0	0	0.004007	0	0
DSG3	1830	broad.mit.edu	37	18	29055672	29055672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:29055672G>A	ENST00000257189.4	+	16	2532	c.2449G>A	c.(2449-2451)Gat>Aat	p.D817N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	817					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTGATCTATGATAATGAAGG	0.458000													39	46					0	0	0.002522	0	0
SPTA1	6708	broad.mit.edu	37	1	158627344	158627344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158627344C>T	ENST00000368148.3	-	19	2908	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E910K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	910					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTCTGCTTCATGCAGGTCA	0.473000													106	158					0	0	0.003610	0	0
WNT3A	89780	broad.mit.edu	37	1	228210554	228210554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:228210554G>A	ENST00000284523.1	+	2	336	c.258G>A	c.(256-258)tgG>tgA	p.W86*	WNT3A_ENST00000366753.2_Nonsense_Mutation_p.W86*	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	86					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCGCCGGTGGAACTGCACCA	0.642000													30	57					0	0	0.008361	0	0
NRAS	4893	broad.mit.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493000	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			63	65					0	0	0.003610	0	0
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:8115874C>T	ENST00000379328.3	+	6	1791	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	GATA3_ENST00000346208.3_Missense_Mutation_p.S407L|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	407					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						25	23					0	0	0.003330	0	0
GSDMA	284110	broad.mit.edu	37	17	38122529	38122529	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38122529G>A	ENST00000301659.4	+	3	349	c.231G>A	c.(229-231)ggG>ggA	p.G77G		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	77					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CAGACACTGGGAATTTTGGCT	0.537000													26	42					0	0	0.005443	0	0
LRP4	4038	broad.mit.edu	37	11	46917529	46917529	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46917529A>C	ENST00000378623.1	-	10	1331	c.1089T>G	c.(1087-1089)ggT>ggG	p.G363G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	363	EGF-like 1; calcium-binding (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGCACAGCCACCGTTGTTAA	0.622000													16	66					0	0	0.006122	0	0
KLHL36	79786	broad.mit.edu	37	16	84690709	84690709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84690709C>T	ENST00000564996.1	+	3	437	c.296C>T	c.(295-297)gCc>gTc	p.A99V	KLHL36_ENST00000258157.5_Missense_Mutation_p.A99V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	99	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGCTCAAGGCCGTGGTGGAC	0.597000													9	24					0	0	0.006214	0	0
ERG	2078	broad.mit.edu	37	21	39774513	39774513	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:39774513T>A	ENST00000442448.1	-	7	931	c.660A>T	c.(658-660)caA>caT	p.Q220H	ERG_ENST00000398919.2_Missense_Mutation_p.Q220H|ERG_ENST00000429727.2_Intron|ERG_ENST00000398911.1_Missense_Mutation_p.Q220H|ERG_ENST00000398907.1_Missense_Mutation_p.Q213H|ERG_ENST00000398905.1_Missense_Mutation_p.Q213H|ERG_ENST00000288319.7_Missense_Mutation_p.Q213H|ERG_ENST00000398910.1_Missense_Mutation_p.Q220H|ERG_ENST00000453032.2_Missense_Mutation_p.Q121H|ERG_ENST00000417133.2_Missense_Mutation_p.Q220H|ERG_ENST00000398897.1_Missense_Mutation_p.Q121H	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	220					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GTGGAGAGTTTTGTAAGGCTT	0.438000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								18	47					0	0	0.007413	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834401	125834401	+	Silent	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:125834401T>G	ENST00000299308.3	+	2	464	c.456T>G	c.(454-456)ctT>ctG	p.L152L	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	152						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACAGTGACCTTACGGAAGATC	0.542000													42	103					0	0	0.002222	0	0
UNC79	57578	broad.mit.edu	37	14	94158208	94158208	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94158208C>T	ENST00000553484.1	+	48	7723	c.7569C>T	c.(7567-7569)ttC>ttT	p.F2523F	UNC79_ENST00000393151.2_Silent_p.F2501F|UNC79_ENST00000256339.4_Silent_p.F2324F|UNC79_ENST00000555664.1_Silent_p.F2462F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2501						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGAATGAATTCAGCTTCACGG	0.478000													48	44					0	0	0.003610	0	0
SLC22A2	6582	broad.mit.edu	37	6	160638496	160638496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:160638496G>A	ENST00000366953.3	-	11	1894	c.1636C>T	c.(1636-1638)Caa>Taa	p.Q546*	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	546					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTCTGAACTTGGAGGTAAATC	0.373000													6	26					0	0	0.004482	0	0
NPY4R	5540	broad.mit.edu	37	10	47087321	47087321	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:47087321C>T	ENST00000374312.1	+	3	957	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	NPY4R_ENST00000395716.1_Silent_p.L180L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CAACAGCATCCTGGAGAATGT	0.582000													17	25					0	0	0.006122	0	0
MEP1A	4224	broad.mit.edu	37	6	46803191	46803191	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:46803191C>T	ENST00000230588.4	+	13	1998	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	663					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCCTGGAGGACCATAACTGGC	0.597000													7	16					0	0	0.003080	0	0
API5	8539	broad.mit.edu	37	11	43348116	43348116	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:43348116C>T	ENST00000378852.3	+	7	935	c.810C>T	c.(808-810)ctC>ctT	p.L270L	API5_ENST00000455725.2_Silent_p.L259L|API5_ENST00000531273.1_Silent_p.L270L|API5_ENST00000534600.1_Silent_p.L270L|API5_ENST00000420461.2_Silent_p.L216L|API5_ENST00000534695.1_Intron	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	270					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCCCTAACCTCGGTACCTTGA	0.368000													55	158					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139164952	139164952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:139164952C>T	ENST00000395297.1	-	13	1936	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	589										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCCCAGTCCTGTCTAATCC	0.448000										HNSCC(54;0.14)			29	109					0	0	0.002445	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327161	150327161	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150327161G>A	ENST00000328902.5	-	2	286	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	GIMAP6_ENST00000493969.1_Silent_p.L24L	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	24							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACAGCTCCAGCACAGGATCC	0.458000													55	149					0	0	0.003610	0	0
EPB41L2	2037	broad.mit.edu	37	6	131225613	131225613	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:131225613A>T	ENST00000337057.3	-	6	1102	c.921T>A	c.(919-921)gaT>gaA	p.D307E	EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D307E|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D307E|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D307E|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D307E	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	307	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACCTGGTGATATCTTCAGTCA	0.353000													32	61					0	0	0.002836	0	0
KIF14	9928	broad.mit.edu	37	1	200555350	200555350	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:200555350T>C	ENST00000367350.4	-	19	3558	c.3120A>G	c.(3118-3120)ttA>ttG	p.L1040L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1040	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TATGGTCTTCTAAAGCCTAAT	0.348000													42	159					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179590143	179590143	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179590143T>G	ENST00000589042.1	-	71	21012	c.20788A>C	c.(20788-20790)Aag>Cag	p.K6930Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K6613Q|TTN_ENST00000342992.6_Missense_Mutation_p.K5686Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6613	Ig-like 51.						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)			CCATCATTCTTGATTTGGCAG	0.413000													15	7					0	0	0.007413	0	0
DIAPH3	81624	broad.mit.edu	37	13	60453532	60453532	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:60453532A>C	ENST00000400324.4	-	21	2658	c.2438T>G	c.(2437-2439)gTg>gGg	p.V813G	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V813G|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V813G|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V802G|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V743G|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V767G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	813	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GATGTTGTTCACCTGCTCTTC	0.423000													16	19					0	0	0.003163	0	0
TCHH	7062	broad.mit.edu	37	1	152086520	152086520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152086520C>T	ENST00000368804.1	-	1	36	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	13	S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGAAAATTTCAGTGATGTCA	0.363000													15	65					0	0	0.002450	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146722	156146722	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156146722G>A	ENST00000368285.3	+	15	2487	c.2220G>A	c.(2218-2220)aaG>aaA	p.K740K	SEMA4A_ENST00000368282.1_Silent_p.K740K|SEMA4A_ENST00000368286.2_Silent_p.K608K|SEMA4A_ENST00000355014.2_Silent_p.K740K|SEMA4A_ENST00000368284.1_Silent_p.K608K	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	740					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTCTCCCAAGGAATGCAGGA	0.617000													28	57					0	0	0.002096	0	0
ATG12	9140	broad.mit.edu	37	5	115173368	115173368	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:115173368T>C	ENST00000509910.1	-	2	562	c.257A>G	c.(256-258)gAc>gGc	p.D86G	ATG12_ENST00000274459.4_Missense_Mutation_p.D133G|ATG12_ENST00000509598.1_5'UTR|ATG12_ENST00000500945.2_Intron			O94817	ATG12_HUMAN	autophagy related 12	86					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TTTGATGAAGTCAATGAGTCC	0.398000													34	19					0	0	0.004289	0	0
NOS1	4842	broad.mit.edu	37	12	117768797	117768797	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:117768797C>T	ENST00000317775.6	-	2	763	c.78G>A	c.(76-78)ggG>ggA	p.G26G	NOS1_ENST00000344089.3_Silent_p.G26G|NOS1_ENST00000338101.4_Silent_p.G26G	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	26	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCCCAGGCCCCCAACTTTGC	0.567000													21	59					0	0	0.001882	0	0
SHKBP1	92799	broad.mit.edu	37	19	41095040	41095040	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:41095040C>T	ENST00000291842.5	+	15	1594	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Silent_p.P490P	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	515						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGGTGCCCAGTGCCAGCC	0.647000													13	25					0	0	0.001855	0	0
SYCP1	6847	broad.mit.edu	37	1	115453082	115453082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115453082G>A	ENST00000369522.3	+	17	1625	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	SYCP1_ENST00000369518.1_Missense_Mutation_p.G462E	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	462					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATTAAAAGGAACAGAACAA	0.279000													52	62					0	0	0.003610	0	0
NUTM1	256646	broad.mit.edu	37	15	34647840	34647840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:34647840G>A	ENST00000537011.1	+	8	2013	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	NUTM1_ENST00000333756.4_Missense_Mutation_p.G516E|NUTM1_ENST00000438749.3_Missense_Mutation_p.G534E					NUT midline carcinoma, family member 1																		GGGCTTCAGGGGGCTGGGGGC	0.592000													48	79					0	0	0.003610	0	0
AQP12A	375318	broad.mit.edu	37	2	241631577	241631577	+	Silent	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:241631577G>C	ENST00000429564.1	+	2	309	c.246G>C	c.(244-246)gcG>gcC	p.A82A	AQP12A_ENST00000337801.4_Silent_p.A70A			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	70						integral to membrane	transporter activity	p.A70A(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCTTCCTGGCGCACGGGGTCA	0.667000													4	52					0	0	0.008291	0	0
PCF11	51585	broad.mit.edu	37	11	82877030	82877030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:82877030C>T	ENST00000298281.4	+	5	1543	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	364	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATTCTAAATCGAAATCGAAA	0.313000													15	25					0	0	0.004007	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651197	84651197	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:84651197C>T	ENST00000286744.5	+	21	3041	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	ADAMTSL3_ENST00000567476.1_Silent_p.F939F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	939	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCGACGATTCCAGAAATCTC	0.498000													42	70					0	0	0.002522	0	0
NLRP7	199713	broad.mit.edu	37	19	55451188	55451188	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55451188G>A	ENST00000446217.1	-	6	1485	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	NLRP7_ENST00000448121.2_Silent_p.F333F|NLRP7_ENST00000328092.5_Silent_p.F333F|NLRP7_ENST00000340844.2_Silent_p.F333F|NLRP7_ENST00000592784.1_Silent_p.F333F|NLRP7_ENST00000590030.1_Silent_p.F333F|NLRP7_ENST00000588756.1_Silent_p.F333F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	333	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGTGTCTCAGGAAATAGGCCC	0.647000													20	31					0	0	0.002780	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651534	8651534	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:8651534G>A	ENST00000270328.4	-	19	2577	c.2311C>T	c.(2311-2313)Cta>Tta	p.L771L	ADAMTS10_ENST00000597188.1_Silent_p.L771L|ADAMTS10_ENST00000595838.1_Silent_p.L258L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	771	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTCCCAGCTAGAGGCAGACGG	0.622000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	89					0	0	0.006230	0	0
BRINP3	339479	broad.mit.edu	37	1	190130018	190130018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:190130018C>T	ENST00000367462.3	-	7	1195	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E220K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		322						extracellular region				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)					AACTTGAATTCATCTGAAAAA	0.274000													59	72					0	0	0.003610	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													11	73					0	0	0.001368	0	0
CCDC24	149473	broad.mit.edu	37	1	44459601	44459601	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:44459601C>T	ENST00000372318.3	+	5	633	c.462C>T	c.(460-462)aaC>aaT	p.N154N	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	154										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACCAACTGAACGTGTCCAACA	0.567000													20	33					0	0	0.001882	0	0
RPTN	126638	broad.mit.edu	37	1	152129231	152129231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152129231C>T	ENST00000316073.3	-	3	408	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	115	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTGTGTTTCCTGGGAACTT	0.527000													137	210					0	0	0.003610	0	0
OR10X1	128367	broad.mit.edu	37	1	158549127	158549127	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158549127T>C	ENST00000368150.1	-	1	562	c.563A>G	c.(562-564)aAc>aGc	p.N188S		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTGACAAGGTTGGGTCTGCA	0.433000													31	56					0	0	0.002445	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649204	75649204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:75649204C>T	ENST00000361470.2	+	1	1159	c.881C>T	c.(880-882)aCc>aTc	p.T294I		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	294	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGATCAAGCACCTCCGTGCCC	0.706000													6	6					0	0	0.001168	0	0
TG	7038	broad.mit.edu	37	8	133941344	133941344	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:133941344C>G	ENST00000220616.4	+	23	4763	c.4723C>G	c.(4723-4725)Cca>Gca	p.P1575A	TG_ENST00000542445.1_Missense_Mutation_p.P9A|TG_ENST00000377869.1_Missense_Mutation_p.P1518A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1575					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGAGAAGGTTCCAGAATCAAA	0.453000													30	41					0	0	0.001786	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140671	143140671	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143140671G>A	ENST00000332690.1	+	1	126	c.126G>A	c.(124-126)ctG>ctA	p.L42L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	42					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTGCTGCTCTGGGCGTGGAGT	0.498000													34	94					0	0	0.003755	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144061193	144061193	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:144061193G>A	ENST00000056217.5	+	2	1605	c.1431G>A	c.(1429-1431)aaG>aaA	p.K477K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	477					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CACCTGACAAGGAAATAGATC	0.547000													11	54					0	0	0.004990	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011573	46011573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46011573G>A	ENST00000400368.1	-	1	813	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	265	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						TGCTGGCAGGGGGAGGAGGTG	0.647000													36	77					0	0	0.003271	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55315353	55315353	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55315353C>T	ENST00000396284.2	+	2	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Silent_p.F16F|KIR2DL4_ENST00000396293.1_Silent_p.F16F|KIR2DL4_ENST00000357494.4_Silent_p.F16F|KIR2DL4_ENST00000359085.4_Silent_p.F16F|KIR2DL4_ENST00000345540.5_Silent_p.F16F|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGTTCTTCTTGGACCAGA	0.502000													56	28					0	0	0.003610	0	0
GALNT12	79695	broad.mit.edu	37	9	101585540	101585540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:101585540G>A	ENST00000375011.3	+	2	374	c.374G>A	c.(373-375)tGc>tAc	p.C125Y		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	125						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ATTTGCAGGTGCAAAGAGAAG	0.463000													24	20					0	0	0.008361	0	0
RARRES2	5919	broad.mit.edu	37	7	150036168	150036168	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150036168C>T	ENST00000466675.1	-	3	1315	c.282G>A	c.(280-282)agG>agA	p.R94R	RARRES2_ENST00000223271.3_Silent_p.R94R|RARRES2_ENST00000482669.1_Silent_p.R94R			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	94					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ATTTCCGTTTCCTCTGTGGGG	0.607000													35	55					0	0	0.002836	0	0
CACNA1B	774	broad.mit.edu	37	9	140809221	140809221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:140809221G>A	ENST00000371372.1	+	5	883	c.738G>A	c.(736-738)atG>atA	p.M246I	CACNA1B_ENST00000371363.1_Missense_Mutation_p.M246I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M246I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M246I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M246I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	246					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGTTCTACATGGGCAAGTTCC	0.552000													10	8					0	0	0.000978	0	0
PTPRD	5789	broad.mit.edu	37	9	8636727	8636727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:8636727C>T	ENST00000381196.4	-	10	725	c.182G>A	c.(181-183)gGa>gAa	p.G61E	PTPRD_ENST00000397611.3_Missense_Mutation_p.G61E|PTPRD_ENST00000397617.3_Missense_Mutation_p.G61E|PTPRD_ENST00000397606.3_Missense_Mutation_p.G61E|PTPRD_ENST00000540109.1_Missense_Mutation_p.G61E|PTPRD_ENST00000537002.1_Missense_Mutation_p.G61E|PTPRD_ENST00000360074.4_Missense_Mutation_p.G61E|PTPRD_ENST00000486161.1_Missense_Mutation_p.G61E|PTPRD_ENST00000356435.5_Missense_Mutation_p.G61E|PTPRD_ENST00000355233.5_Missense_Mutation_p.G61E|PTPRD_ENST00000463477.1_Missense_Mutation_p.G61E|PTPRD_ENST00000358503.5_Missense_Mutation_p.G61E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	61	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G61E(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACTTTCTTTCCTTTTTTGTT	0.458000										TSP Lung(15;0.13)			25	57					0	0	0.004656	0	0
ADAP2	55803	broad.mit.edu	37	17	29280360	29280360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:29280360G>A	ENST00000330889.3	+	8	1131	c.796G>A	c.(796-798)Ggg>Agg	p.G266R	ADAP2_ENST00000580525.1_Missense_Mutation_p.G272R	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	266	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GGAAAAGACTGGGCCAAAGGT	0.468000													9	16					0	0	0.008291	0	0
BMS1	9790	broad.mit.edu	37	10	43318679	43318679	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:43318679C>T	ENST00000374518.4	+	20	3309	c.3246C>T	c.(3244-3246)ttC>ttT	p.F1082F		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1082					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGGAGCTTTCAGGGCCAGCT	0.512000													25	22					0	0	0.003330	0	0
SCN5A	6331	broad.mit.edu	37	3	38627507	38627507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38627507G>A	ENST00000413689.1	-	16	2655	c.2462C>T	c.(2461-2463)tCa>tTa	p.S821L	SCN5A_ENST00000451551.2_Missense_Mutation_p.S821L|SCN5A_ENST00000414099.2_Missense_Mutation_p.S821L|SCN5A_ENST00000333535.4_Missense_Mutation_p.S821L|SCN5A_ENST00000425664.1_Missense_Mutation_p.S821L|SCN5A_ENST00000423572.2_Missense_Mutation_p.S821L|SCN5A_ENST00000450102.2_Missense_Mutation_p.S821L|SCN5A_ENST00000449557.2_Missense_Mutation_p.S821L|SCN5A_ENST00000443581.1_Missense_Mutation_p.S821L|SCN5A_ENST00000455624.2_Missense_Mutation_p.S821L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	821					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTGGGCCATGATTTGGCCAG	0.582000													15	28					0	0	0.003163	0	0
CABIN1	23523	broad.mit.edu	37	22	24439440	24439440	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:24439440C>T	ENST00000398319.2	+	6	805	c.420C>T	c.(418-420)atC>atT	p.I140I	CABIN1_ENST00000405822.2_Silent_p.I140I|CABIN1_ENST00000263119.5_Silent_p.I140I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	140					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCATCCGGATCCCCCTGGCTC	0.547000													27	57					0	0	0.005443	0	0
SEMA3E	9723	broad.mit.edu	37	7	83021940	83021940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:83021940C>T	ENST00000307792.3	-	14	2065	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R473Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	533					axon guidance	extracellular space|membrane	receptor activity	p.R533Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTAAGGGTCTCGAGCCAGGCA	0.498000													22	47					0	0	0.001882	0	0
F11	2160	broad.mit.edu	37	4	187197030	187197030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187197030C>T	ENST00000264692.4	+	6	752	c.419C>T	c.(418-420)tCc>tTc	p.S140F	F11_ENST00000403665.2_Missense_Mutation_p.S192F			P03951	FA11_HUMAN	coagulation factor XI	192	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TCACTGAAATCCTGTGCACTT	0.383000													3	7					0	0	0.000248	0	0
EPHA7	2045	broad.mit.edu	37	6	93967959	93967959	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:93967959C>T	ENST00000369303.4	-	11	2152	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CATCTCTTTTCCCTGGAAGTT	0.388000													43	127					0	0	0.003214	0	0
SCN5A	6331	broad.mit.edu	37	3	38592926	38592926	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38592926A>C	ENST00000413689.1	-	28	5130	c.4937T>G	c.(4936-4938)cTg>cGg	p.L1646R	SCN5A_ENST00000451551.2_Missense_Mutation_p.L1592R|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1628R|SCN5A_ENST00000333535.4_Missense_Mutation_p.L1646R|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1628R|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1645R|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1592R|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1592R|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1645R|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1613R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1646					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCAAAGAGCAGCGTGCGGAT	0.582000													31	86					0	0	0.002836	0	0
SLC19A1	6573	broad.mit.edu	37	21	46936041	46936041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46936041G>A	ENST00000311124.4	-	6	1459	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S396F	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	436					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GAAGTACACGGAGTATAACTG	0.672000													13	23					0	0	0.002450	0	0
ATR	545	broad.mit.edu	37	3	142274762	142274762	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:142274762G>A	ENST00000350721.4	-	10	2419	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	ATR_ENST00000383101.3_Silent_p.F702F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	766					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAGGAAAAGGAATGGCTTGC	0.358000								Other conserved DNA damage response genes					32	25					0	0	0.004289	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737326	62737326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:62737326C>T	ENST00000369768.1	-	1	1198	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	287						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGGGGCAGGTCCGTGGTCAGG	0.637000													17	39					0	0	0.001523	0	0
TNR	7143	broad.mit.edu	37	1	175362936	175362936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175362936C>T	ENST00000367674.1	-	6	2044	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_ENST00000263525.2_Missense_Mutation_p.E446K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	446	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGCTGATTTCCCACCCATCG	0.473000													110	196					0	0	0.003610	0	0
CCNB3	85417	broad.mit.edu	37	X	50052110	50052110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:50052110C>T	ENST00000376042.1	+	6	1239	c.941C>T	c.(940-942)tCc>tTc	p.S314F	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S314F|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	314					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)					GGAGCAATGTCCTCCATTAAG	0.413000													51	27					0	0	0.003610	0	0
BNC1	646	broad.mit.edu	37	15	83932172	83932172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:83932172G>A	ENST00000345382.2	-	4	1916	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R604C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	611					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R611C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGATTCACGATGGCAGGGC	0.547000													29	61					0	0	0.002836	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121894	12121894	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:12121894C>T	ENST00000379388.2	+	4	2198	c.1866C>T	c.(1864-1866)tcC>tcT	p.S622S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	622					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGAGAATTCCCACCAGAAAG	0.522000													49	84					0	0	0.003610	0	0
PPEF2	5470	broad.mit.edu	37	4	76794405	76794405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:76794405G>A	ENST00000286719.7	-	12	1737	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	461	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCCTCCTCGAATAGTGTTG	0.453000													30	65					0	0	0.002096	0	0
FAM135B	51059	broad.mit.edu	37	8	139164922	139164922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:139164922C>T	ENST00000395297.1	-	13	1966	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	599										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGTGGCTTCCACCTACTAC	0.468000										HNSCC(54;0.14)			30	114					0	0	0.004289	0	0
KCNC4	3749	broad.mit.edu	37	1	110774872	110774872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110774872C>T	ENST00000369787.3	+	4	1876	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*	KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	617					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTTCCCCTTCAGCATTCACC	0.557000													13	23					0	0	0.004990	0	0
ITGAM	3684	broad.mit.edu	37	16	31336715	31336715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:31336715C>T	ENST00000544665.3	+	20	2569	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F	ITGAM_ENST00000287497.8_Missense_Mutation_p.S832F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	832					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGAAGGTGTCCACGCTCCAG	0.562000													13	51					0	0	0.004007	0	0
ROBO1	6091	broad.mit.edu	37	3	78710396	78710396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:78710396G>A	ENST00000436010.2	-	14	2984	c.1987C>T	c.(1987-1989)Cag>Tag	p.Q663*	ROBO1_ENST00000464233.1_Nonsense_Mutation_p.Q702*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q666*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q666*			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	702					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTATATACTGAGACTGTTGA	0.323000													7	12					0	0	0.001984	0	0
PRMT8	56341	broad.mit.edu	37	12	3678727	3678727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:3678727C>T	ENST00000382622.3	+	6	1099	c.709C>T	c.(709-711)Cac>Tac	p.H237Y	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.H228Y	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	237					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTTCAAAATCCACTGTAAGTC	0.522000													31	59					0	0	0.001786	0	0
LILRA3	11026	broad.mit.edu	37	19	54802566	54802566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54802566C>T	ENST00000391745.1	-	9	1242	c.926G>A	c.(925-927)gGg>gAg	p.G309E	LILRA3_ENST00000391744.3_Missense_Mutation_p.G228E|LILRA3_ENST00000251390.3_Missense_Mutation_p.G292E					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTACTGGCCCCCGTAGGAGCG	0.682000													17	63					0	0	0.001523	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881727	228881727	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:228881727G>A	ENST00000392056.3	-	7	3889	c.3843C>T	c.(3841-3843)tcC>tcT	p.S1281S	SPHKAP_ENST00000344657.5_Silent_p.S1281S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1281						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACCGGATGAGGACGCGCTAC	0.507000													38	25					0	0	0.008740	0	0
LGALS14	56891	broad.mit.edu	37	19	40197274	40197274	+	Missense_Mutation	SNP	C	C	T	rs150238702		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:40197274C>T	ENST00000392052.3	+	2	276	c.53C>T	c.(52-54)tCg>tTg	p.S18L	LGALS14_ENST00000360675.3_Missense_Mutation_p.S47L	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	18	Galectin.					nucleus	sugar binding	p.S47L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCTGTTGGTTCGTGCGTGATA	0.507000													75	121					0	0	0.003610	0	0
ARPP21	10777	broad.mit.edu	37	3	35756948	35756948	+	Silent	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:35756948A>G	ENST00000187397.4	+	12	1371	c.915A>G	c.(913-915)gaA>gaG	p.E305E	ARPP21_ENST00000417925.1_Silent_p.E271E|ARPP21_ENST00000458225.1_Silent_p.E271E|ARPP21_ENST00000337271.5_Silent_p.E271E|ARPP21_ENST00000444190.1_Silent_p.E271E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	305						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTCCCAGGAAAGCCTTTTTG	0.343000													18	55					0	0	0.001523	0	0
UBR1	197131	broad.mit.edu	37	15	43360109	43360109	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:43360109G>C	ENST00000290650.4	-	6	863	c.785C>G	c.(784-786)gCc>gGc	p.A262G	UBR1_ENST00000382177.2_Missense_Mutation_p.A262G	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	262					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTGTCAATGGCAGTGGTATG	0.468000													27	49					0	0	0.005443	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455470	84455470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:84455470G>A	ENST00000377084.2	-	1	1058	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	58						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTAAAACTGGGAAGTCGGGGC	0.433000													24	30					0	0	0.006320	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079780	70079780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70079780C>T	ENST00000446444.1	-	1	669	c.661G>A	c.(661-663)Gac>Aac	p.D221N	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	221					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AACCAAAAGTCAAAATAAAGC	0.323000													23	45					0	0	0.003954	0	0
LY6G6F	259215	broad.mit.edu	37	6	31678155	31678155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:31678155G>A	ENST00000375832.4	+	5	851	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	277						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GTTCAAACCCGAAATCCAGGT	0.537000													170	499					0	0	0.003610	0	0
UTP20	27340	broad.mit.edu	37	12	101699781	101699781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:101699781C>T	ENST00000261637.4	+	16	2044	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	624					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCCACTTTCCCAGGAGGCTTT	0.448000													39	80					0	0	0.006230	0	0
SCN11A	11280	broad.mit.edu	37	3	38949510	38949510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38949510G>A	ENST00000450244.1	-	10	1601	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	SCN11A_ENST00000444237.2_Missense_Mutation_p.S468F|SCN11A_ENST00000302328.3_Missense_Mutation_p.S468F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S468F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	468					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAAAGAAGGACTTCCTTTT	0.398000													26	83					0	0	0.004656	0	0
STT3B	201595	broad.mit.edu	37	3	31621363	31621363	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:31621363A>G	ENST00000295770.2	+	3	695	c.486A>G	c.(484-486)atA>atG	p.I162M	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	162					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CATTGAACATAACTGTTCACA	0.353000													26	45					0	0	0.003954	0	0
DDX60L	91351	broad.mit.edu	37	4	169337923	169337923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169337923C>T	ENST00000511577.1	-	20	2883	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E	DDX60L_ENST00000260184.7_Missense_Mutation_p.G879E|DDX60L_ENST00000505890.1_Missense_Mutation_p.G879E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	879	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAATTTTGCTCCAACTTCTCT	0.338000													22	35					0	0	0.003954	0	0
WDR16	146845	broad.mit.edu	37	17	9532059	9532059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:9532059G>A	ENST00000352665.5	+	9	1165	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	WDR16_ENST00000299764.5_Missense_Mutation_p.E376K|WDR16_ENST00000396219.3_Missense_Mutation_p.E298K	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	366						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCCAACAGGGAGCTGCTGCG	0.527000													14	13					0	0	0.003163	0	0
OTOGL	283310	broad.mit.edu	37	12	80729820	80729820	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:80729820C>T	ENST00000458043.2	+	38	4479	c.4473C>T	c.(4471-4473)tcC>tcT	p.S1491S	OTOGL_ENST00000547103.1_Silent_p.S1479S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACAACTGGTCCCTTAATTGCC	0.418000													21	32					0	0	0.002299	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946201	21946201	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:21946201G>A	ENST00000406877.3	-	5	1017	c.738C>T	c.(736-738)acC>acT	p.T246T	CDCA7L_ENST00000356195.5_Silent_p.T212T|CDCA7L_ENST00000373934.4_Silent_p.T200T|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	246					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTGAGGTTGGGGTTCGTACTG	0.423000													38	168					0	0	0.002222	0	0
DMBT1	1755	broad.mit.edu	37	10	124399765	124399765	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124399765G>A	ENST00000368909.3	+	52	6871	c.6765G>A	c.(6763-6765)gtG>gtA	p.V2255V	DMBT1_ENST00000330163.4_Silent_p.V1627V|DMBT1_ENST00000368956.2_Silent_p.V1627V|DMBT1_ENST00000359586.6_Silent_p.V975V|DMBT1_ENST00000338354.3_Silent_p.V2255V|DMBT1_ENST00000344338.3_Silent_p.V2245V|DMBT1_ENST00000368955.3_Silent_p.V2245V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2255	ZP.		V -> M.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTTTGACGTGAACATTTCCT	0.468000													40	52					0	0	0.004878	0	0
ATP13A5	344905	broad.mit.edu	37	3	193051659	193051659	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:193051659G>A	ENST00000342358.4	-	11	1269	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	384					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGGGGTACAGGATGGATCTCA	0.453000													25	14					0	0	0.004656	0	0
CCDC132	55610	broad.mit.edu	37	7	92932784	92932784	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:92932784T>A	ENST00000544910.1	+	18	1504	c.1284T>A	c.(1282-1284)gaT>gaA	p.D428E	CCDC132_ENST00000541136.1_Missense_Mutation_p.D269E|CCDC132_ENST00000305866.5_Missense_Mutation_p.D458E|CCDC132_ENST00000535481.1_Missense_Mutation_p.D178E|CCDC132_ENST00000317751.6_Missense_Mutation_p.D189E	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	458										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CACGGCTCGATGAACTGAGAA	0.338000													39	84					0	0	0.007835	0	0
CCDC68	80323	broad.mit.edu	37	18	52604176	52604176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:52604176C>T	ENST00000591504.1	-	6	633	c.359G>A	c.(358-360)aGa>aAa	p.R120K	CCDC68_ENST00000337363.4_Missense_Mutation_p.R120K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R120K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	120										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCCTGCTTCTCTGGAGGCTTG	0.423000													27	46					0	0	0.002836	0	0
OR4C46	119749	broad.mit.edu	37	11	51515538	51515538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:51515538G>A	ENST00000328188.1	+	1	257	c.257G>A	c.(256-258)gGa>gAa	p.G86E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCACTCTATGGAAAGAAGGCC	0.478000													43	101					0	0	0.008740	0	0
WASF3	10810	broad.mit.edu	37	13	27254258	27254258	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:27254258G>A	ENST00000361042.4	+	7	852	c.627G>A	c.(625-627)agG>agA	p.R209R	WASF3_ENST00000335327.5_Intron			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	208					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GGGAGAGAAGGAAAATGGGCA	0.453000													18	9					0	0	0.006122	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272197	43272197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:43272197G>A	ENST00000263246.3	-	10	1495	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	PACSIN2_ENST00000402229.1_Missense_Mutation_p.R432W|PACSIN2_ENST00000403744.3_Missense_Mutation_p.R432W|PACSIN2_ENST00000407585.1_Missense_Mutation_p.R391W|PACSIN2_ENST00000337959.4_Missense_Mutation_p.R391W|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	432	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TACAGGGCCCGGACTCGCACT	0.607000													15	43					0	0	0.007413	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47582349	47582349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47582349G>A	ENST00000334194.3	+	11	1297	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	432						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATTCTCCAGGGAAAATTCTGA	0.408000													14	26					0	0	0.004990	0	0
SIX4	51804	broad.mit.edu	37	14	61190726	61190726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:61190726C>T	ENST00000216513.4	-	1	126	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	23			E -> Q (in a breast cancer sample; somatic mutation).			nucleus		p.E23Q(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGGCGCTTTCCATCCCATTC	0.642000													56	103					0	0	0.003610	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42833145	42833145	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:42833145C>T	ENST00000314073.5	+	13	3377	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S	GLTSCR1L_ENST00000394168.1_Silent_p.S1067S					GLTSCR1-like																		AAACTGACTCCATTTTAGAAG	0.512000													37	133					0	0	0.002852	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140739823	140739823	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:140739823C>T	ENST00000522605.1	+	1	121	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGAGGAGCTGGCCAAAAA	0.607000											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	17					0	0	0.004990	0	0
GCOM1	145781	broad.mit.edu	37	15	57910270	57910270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:57910270C>T	ENST00000574161.1	+	3	321	c.202C>T	c.(202-204)Cct>Tct	p.P68S	GCOM1_ENST00000587652.1_Missense_Mutation_p.P68S|MYZAP_ENST00000380565.4_Missense_Mutation_p.P68S|GCOM1_ENST00000396180.1_Missense_Mutation_p.P68S|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.P68S|GCOM1_ENST00000380561.2_Missense_Mutation_p.P68S|MYZAP_ENST00000267853.5_Missense_Mutation_p.P68S|GCOM1_ENST00000380560.2_Missense_Mutation_p.P68S|GCOM1_ENST00000380568.3_Missense_Mutation_p.P68S|GCOM1_ENST00000380569.2_Missense_Mutation_p.P68S	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		68					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGAAACTTCCTCAGGGTGT	0.423000													16	32					0	0	0.007413	0	0
F5	2153	broad.mit.edu	37	1	169529805	169529805	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:169529805A>C	ENST00000367796.3	-	4	774	c.573T>G	c.(571-573)ctT>ctG	p.L191L	F5_ENST00000546081.1_Silent_p.L54L|F5_ENST00000367797.3_Silent_p.L191L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	191	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTACAGATAAGCAGGGGCC	0.473000													26	130					0	0	0.003954	0	0
CA8	767	broad.mit.edu	37	8	61121413	61121413	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:61121413C>T	ENST00000317995.4	-	8	1068	c.804G>A	c.(802-804)ggG>ggA	p.G268G		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	268					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CTCCCAAAATCCCATCACAGC	0.428000													20	45					0	0	0.001523	0	0
OR52I1	390037	broad.mit.edu	37	11	4616183	4616183	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4616183G>A	ENST00000450052.2	+	2	987	c.987G>A	c.(985-987)ctG>ctA	p.L329L	OR52I1_ENST00000530443.2_Silent_p.L305L			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACAATTGCTGGAGGGAATAT	0.468000													32	91					0	0	0.002836	0	0
TREM2	54209	broad.mit.edu	37	6	41126415	41126415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41126415G>A	ENST00000338469.3	-	4	689	c.586C>T	c.(586-588)Ctt>Ttt	p.L196F	TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000373113.3_3'UTR	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCAGAACAAGGAGTCCTGGT	0.572000													7	21					0	0	0.001984	0	0
OR51B2	79345	broad.mit.edu	37	11	5344688	5344688	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5344688G>A	ENST00000328813.2	-	1	894	c.840C>T	c.(838-840)ctC>ctT	p.L280L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGAGGAAAGAGGAAGTAGA	0.358000													22	47					0	0	0.001882	0	0
KIAA0319	9856	broad.mit.edu	37	6	24554805	24554805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:24554805C>T	ENST00000535378.1	-	20	3527	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G926E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G971E|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G971E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	971					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTGAAACCTCCTGTTAGCAC	0.413000													75	260					0	0	0.003610	0	0
PAK7	57144	broad.mit.edu	37	20	9624959	9624959	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9624959C>T	ENST00000378429.3	-	4	564	c.18G>A	c.(16-18)aaG>aaA	p.K6K	PAK7_ENST00000378423.1_Silent_p.K6K|PAK7_ENST00000353224.5_Silent_p.K6K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	6							ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAATCTTTTTCTTTTTCTTCC	0.438000													10	35					0	0	0.001855	0	0
RGPD4	285190	broad.mit.edu	37	2	108488331	108488331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:108488331G>A	ENST00000408999.3	+	20	3948	c.3871G>A	c.(3871-3873)Gga>Aga	p.G1291R	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1291R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1291					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTCAACAACAGGATCTAACTT	0.413000													237	117					0	0	0.003610	0	0
ARID2	196528	broad.mit.edu	37	12	46244079	46244079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:46244079C>T	ENST00000334344.6	+	15	2345	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q335*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q576*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	725					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCCATACCCCAGACAGGAGT	0.443000			"""N, S, F"""		hepatocellular carcinoma								32	71					0	0	0.003755	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822051	24822051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:24822051C>T	ENST00000376451.2	+	11	2608	c.2348C>T	c.(2347-2349)cCa>cTa	p.P783L	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1064L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1100L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1065L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P1020L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P783L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P783L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P783L			Q5T5P2	SKT_HUMAN	KIAA1217	1100					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACAAAATATCCAGCAGAGGAG	0.512000													26	16					0	0	0.003330	0	0
COL10A1	1300	broad.mit.edu	37	6	116441754	116441754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:116441754G>A	ENST00000327673.4	-	2	1932	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P509S			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	509	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGCCCAGGGGGCCCTGGAAGA	0.622000													13	30					0	0	0.003163	0	0
KDR	3791	broad.mit.edu	37	4	55955585	55955585	+	Silent	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:55955585T>C	ENST00000263923.4	-	25	3655	c.3360A>G	c.(3358-3360)aaA>aaG	p.K1120K	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1120	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTTCCTTCTTTCAATCGCC	0.383000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	31					0	0	0.002780	0	0
ABCC3	8714	broad.mit.edu	37	17	48746224	48746224	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:48746224C>T	ENST00000285238.8	+	15	1961	c.1881C>T	c.(1879-1881)atC>atT	p.I627I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	627					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTATGCCATCACCATACACA	0.652000													5	17					0	0	0.001168	0	0
BRPF1	7862	broad.mit.edu	37	3	9776317	9776317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:9776317C>T	ENST00000383829.2	+	2	897	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	BRPF1_ENST00000433861.2_Missense_Mutation_p.H165Y|BRPF1_ENST00000457855.1_Missense_Mutation_p.H165Y|BRPF1_ENST00000424362.1_Missense_Mutation_p.H165Y|BRPF1_ENST00000302054.3_Missense_Mutation_p.H165Y	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	165	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCATCACCACCACCACAATGT	0.557000													13	31					0	0	0.001855	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534882	96534882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:96534882G>A	ENST00000371321.3	+	2	318	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	79					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	p.G79E(1)		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)	GTGCTGCATGGATATGAAGTG	0.458000													27	34					0	0	0.004656	0	0
OR2T1	26696	broad.mit.edu	37	1	248569764	248569764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248569764C>T	ENST00000366474.1	+	1	469	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTACCTTACCCTTGTGGGAGC	0.512000													42	163					0	0	0.002222	0	0
POTEE	445582	broad.mit.edu	37	2	131976359	131976359	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131976359C>T	ENST00000356920.5	+	1	478	c.384C>T	c.(382-384)ttC>ttT	p.F128F	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.F128F|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	128							ATP binding										ACAGCGCCTTCATGGAGCCCA	0.597000													59	33					0	0	0.003610	0	0
LAMA4	3910	broad.mit.edu	37	6	112537645	112537645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:112537645G>A	ENST00000230538.7	-	3	618	c.221C>T	c.(220-222)aCc>aTc	p.T74I	LAMA4_ENST00000522006.1_Missense_Mutation_p.T74I|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.T74I|LAMA4_ENST00000431543.2_Missense_Mutation_p.T74I|LAMA4_ENST00000424408.2_Missense_Mutation_p.T74I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	74					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCCGACAGGGTGTGAAAGAA	0.428000													11	34					0	0	0.001368	0	0
SEPP1	6414	broad.mit.edu	37	5	42801131	42801131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:42801131C>T	ENST00000507920.1	-	3	575	c.506G>A	c.(505-507)aGa>aAa	p.R169K	SEPP1_ENST00000509276.1_5'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000514985.1_Silent_p.K279K|SEPP1_ENST00000511224.1_Silent_p.K279K|SEPP1_ENST00000506577.1_Silent_p.K279K			P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	0					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTATACATCTCTTTCGACAGA	0.423000													23	43					0	0	0.001882	0	0
CFAP54	144535	broad.mit.edu	37	12	97051735	97051735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:97051735C>T	ENST00000524981.3	+	4	529	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F				Q6ZTY8	CL063_HUMAN		151										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGGTTCTAGTCTTACCTTTGA	0.353000													36	103					0	0	0.004289	0	0
FMO3	2328	broad.mit.edu	37	1	171080037	171080037	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:171080037C>T	ENST00000367755.4	+	6	837	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FMO3_ENST00000542847.1_Silent_p.F222F|FMO3_ENST00000392085.2_Silent_p.F242F|FMO3_ENST00000538429.1_Silent_p.F179F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	242					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGAACCTTCCTCAAGAACA	0.473000													27	176					0	0	0.004656	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141460942	141460942	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:141460942A>C	ENST00000389328.4	-	2	839	c.825T>G	c.(823-825)ctT>ctG	p.L275L	TRAPPC9_ENST00000438773.2_Silent_p.L177L|TRAPPC9_ENST00000389327.3_Silent_p.L177L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	177					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGACACAGAGAAGGGGGATCT	0.522000													3	15					0	0	0.000248	0	0
GLP2R	9340	broad.mit.edu	37	17	9783827	9783827	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:9783827C>T	ENST00000262441.5	+	11	1791	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S	GLP2R_ENST00000574745.1_Silent_p.S246S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	426					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CACTGAGCTCCTTTCATGTAA	0.403000													24	26					0	0	0.003330	0	0
ZNF830	91603	broad.mit.edu	37	17	33289169	33289169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33289169C>T	ENST00000361952.3	+	1	621	c.584C>T	c.(583-585)tCc>tTc	p.S195F		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	195					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)				CACTCAGTTTCCTCTTCACGG	0.522000													14	18					0	0	0.001855	0	0
RIMS2	9699	broad.mit.edu	37	8	105257282	105257282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:105257282G>A	ENST00000507740.1	+	18	3151	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	RIMS2_ENST00000339750.2_Missense_Mutation_p.G94E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G997E|RIMS2_ENST00000436393.2_Missense_Mutation_p.G1176E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1158E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1220					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G1176E(1)|p.G972E(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCAGAAGGAAAGTGAGTG	0.498000										HNSCC(12;0.0054)			22	52					0	0	0.002299	0	0
TRPM6	140803	broad.mit.edu	37	9	77365608	77365608	+	Silent	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:77365608T>G	ENST00000451710.3	-	30	5266	c.5029A>C	c.(5029-5031)Agg>Cgg	p.R1677R	TRPM6_ENST00000376864.4_Silent_p.R1677R|TRPM6_ENST00000376871.3_Silent_p.R510R|TRPM6_ENST00000449912.2_Silent_p.R1672R|TRPM6_ENST00000376872.3_Silent_p.R628R|TRPM6_ENST00000361255.3_Silent_p.R1672R|TRPM6_ENST00000360774.1_Silent_p.R1677R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1677					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGGTGCTCCTGGAATTCCAC	0.418000													21	32					0	0	0.002299	0	0
OR4C3	256144	broad.mit.edu	37	11	48346654	48346654	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48346654G>A	ENST00000319856.4	+	1	183	c.162G>A	c.(160-162)gtG>gtA	p.V54V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCTCTTTGTGGTCTTTTTGC	0.463000													16	55					0	0	0.003163	0	0
DNAH8	1769	broad.mit.edu	37	6	38919199	38919199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38919199G>A	ENST00000359357.3	+	80	11957	c.11703G>A	c.(11701-11703)tgG>tgA	p.W3901*	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W4118*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W3865*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAAACTTGGGAAGAAAGTG	0.438000													146	180					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28711664	28711664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28711664C>T	ENST00000257197.3	-	15	2641	c.2380G>A	c.(2380-2382)Gga>Aga	p.G794R	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G794R|RP11-408H20.3_ENST00000582307.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	794					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTCCACCTCCTTTGTTGGAA	0.512000													61	109					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179590142	179590142	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179590142T>G	ENST00000589042.1	-	71	21013	c.20789A>C	c.(20788-20790)aAg>aCg	p.K6930T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K6613T|TTN_ENST00000342992.6_Missense_Mutation_p.K5686T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6613	Ig-like 51.						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)			ACCATCATTCTTGATTTGGCA	0.418000													13	8					0	0	0.004990	0	0
CRB1	23418	broad.mit.edu	37	1	197446994	197446994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:197446994G>A	ENST00000367400.3	+	12	4341	c.4206G>A	c.(4204-4206)atG>atA	p.M1402I	CRB1_ENST00000544212.1_Missense_Mutation_p.M883I|CRB1_ENST00000367399.2_Missense_Mutation_p.M1290I|CRB1_ENST00000535699.1_Missense_Mutation_p.M1378I|CRB1_ENST00000538660.1_Missense_Mutation_p.M866I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1402					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCCTGCAATGGAGAGACTGA	0.522000													45	84					0	0	0.003610	0	0
CCDC60	160777	broad.mit.edu	37	12	119957998	119957998	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:119957998G>A	ENST00000327554.2	+	9	1505		c.e9+1		RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60											endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCAAATCAAGGTAGGAAAGCC	0.502000													40	89					0	0	0.006230	0	0
ADH7	131	broad.mit.edu	37	4	100348958	100348958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:100348958C>T	ENST00000437033.2	-	5	1039	c.536G>A	c.(535-537)gGa>gAa	p.G179E	ADH7_ENST00000482593.1_Missense_Mutation_p.G122E|ADH7_ENST00000476959.1_Missense_Mutation_p.G199E|ADH7_ENST00000209665.4_Missense_Mutation_p.G191E			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	191					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AGCGCCATATCCAGTGGAAAA	0.408000													16	26					0	0	0.004007	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103039681	103039681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:103039681G>T	ENST00000375735.2	+	32	5104	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E1654*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1654	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTATACTTATGAATATCAGGT	0.279000													15	21					1.62849e-17	1.96464e-17	0.004007	1	0
GUCY2C	2984	broad.mit.edu	37	12	14813932	14813932	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:14813932G>A	ENST00000261170.3	-	11	1483	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	449					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCAGGAGAGCGACGAGCAGGA	0.547000													31	72					0	0	0.006230	0	0
SVIL	6840	broad.mit.edu	37	10	29840032	29840032	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:29840032C>T	ENST00000375398.2	-	8	770	c.321G>A	c.(319-321)agG>agA	p.R107R	SVIL_ENST00000355867.4_Silent_p.R107R|SVIL_ENST00000375400.3_Silent_p.R107R			O95425	SVIL_HUMAN	supervillin	107	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGCTTTGTACCTTGCAATTC	0.532000													47	53					0	0	0.003610	0	0
DLG2	1740	broad.mit.edu	37	11	84245714	84245714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:84245714C>T	ENST00000398309.2	-	2	573	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	DLG2_ENST00000376104.2_Missense_Mutation_p.E140K|DLG2_ENST00000524982.1_Missense_Mutation_p.E35K|DLG2_ENST00000543673.1_Missense_Mutation_p.E140K|DLG2_ENST00000532653.1_Missense_Mutation_p.E35K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	35						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTCTTACTTCGTGGGTTAGT	0.398000													36	70					0	0	0.003755	0	0
NRAP	4892	broad.mit.edu	37	10	115389533	115389533	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:115389533C>T	ENST00000369358.4	-	19	2122	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	NRAP_ENST00000360478.3_Silent_p.K583K|NRAP_ENST00000359988.3_Silent_p.K618K|NRAP_ENST00000369360.3_Silent_p.K591K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	618						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAAAGCCTTTCTTATATTCAA	0.463000													11	17					0	0	0.000978	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315548	30315548	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:30315548C>G	ENST00000375377.1	-	3	3630	c.3529G>C	c.(3529-3531)Gat>Cat	p.D1177H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1177										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGTCCACATCTGAGTGCTCA	0.572000													60	62					0	0	0.003610	0	0
TENM4	26011	broad.mit.edu	37	11	78443603	78443603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:78443603C>T	ENST00000278550.7	-	21	3358	c.2896G>A	c.(2896-2898)Ggc>Agc	p.G966S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GAGATGCCGCCATTTGTCACC	0.542000													10	20					0	0	0.006214	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057751	152057751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152057751G>A	ENST00000368806.1	-	3	2471	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	803							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTAGGTACTGGTATAGTGGA	0.493000													116	164					0	0	0.003610	0	0
CORIN	10699	broad.mit.edu	37	4	47644036	47644036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:47644036G>A	ENST00000273857.4	-	16	2098	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	CORIN_ENST00000508498.1_Missense_Mutation_p.S561F|CORIN_ENST00000502252.1_Missense_Mutation_p.S633F|CORIN_ENST00000505909.1_Missense_Mutation_p.S663F	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	700	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CATCAGAAAGGAAGAGGAGTT	0.448000													27	42					0	0	0.006320	0	0
FCRL5	83416	broad.mit.edu	37	1	157497595	157497595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:157497595C>T	ENST00000361835.3	-	9	1929	c.1772G>A	c.(1771-1773)aGa>aAa	p.R591K	FCRL5_ENST00000368190.3_Missense_Mutation_p.R591K|FCRL5_ENST00000356953.4_Missense_Mutation_p.R591K|FCRL5_ENST00000368191.3_Missense_Mutation_p.R506K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	591	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGAGAGCCTCTCGGGGCCTC	0.602000													46	77					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38962691	38962691	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38962691C>T	ENST00000450244.1	-	6	966	c.768G>A	c.(766-768)gtG>gtA	p.V256V	SCN11A_ENST00000444237.2_Silent_p.V256V|SCN11A_ENST00000302328.3_Silent_p.V256V|SCN11A_ENST00000456224.3_Silent_p.V256V			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	256					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGAGGATAATCACGTTGACCA	0.532000													54	101					0	0	0.003610	0	0
SNX29	92017	broad.mit.edu	37	16	12662380	12662380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:12662380G>A	ENST00000566228.1	+	21	2405	c.2336G>A	c.(2335-2337)gGa>gAa	p.G779E	SNX29_ENST00000306030.3_Missense_Mutation_p.G394E|CTD-3037G24.3_ENST00000564505.1_RNA	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	394					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACCCCGCCCGGAGAGCCTGTG	0.632000													12	36					0	0	0.002450	0	0
MPND	84954	broad.mit.edu	37	19	4359203	4359203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:4359203G>A	ENST00000599840.1	+	12	1405	c.1370G>A	c.(1369-1371)aGg>aAg	p.R457K	MPND_ENST00000262966.8_Missense_Mutation_p.R427K|MPND_ENST00000359935.4_Missense_Mutation_p.R407K			Q8N594	MPND_HUMAN	MPN domain containing	427							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTCGTGAGGCTCCAGGAA	0.627000													14	33					0	0	0.002450	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758943	121758943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:121758943G>A	ENST00000261367.7	+	6	2080	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V218M|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V171M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V171M|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V218M|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	171					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTTTACCAAGGTGACTTCAGA	0.458000													37	39					0	0	0.006230	0	0
COL2A1	1280	broad.mit.edu	37	12	48375179	48375179	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:48375179C>T	ENST00000380518.3	-	37	2574	c.2409_splice	c.e37-1	p.G804_splice	COL2A1_ENST00000337299.6_Splice_Site_p.G735_splice|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	804	Triple-helical region.		G -> A (in hypochondrogenesis).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAACTTCTCCCTGAGGGTGG	0.657000													8	24					0	0	0.003080	0	0
BPIFC	254240	broad.mit.edu	37	22	32853264	32853264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:32853264C>T	ENST00000397452.1	-	2	220	c.110G>A	c.(109-111)aGg>aAg	p.R37K	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.R37K|BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000397450.1_Missense_Mutation_p.R37K			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	37						extracellular region	lipopolysaccharide binding|phospholipid binding										GTCAAGTGCCCTCTGAGTAAT	0.498000													8	38					0	0	0.004482	0	0
MYO1F	4542	broad.mit.edu	37	19	8610586	8610586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:8610586G>A	ENST00000338257.8	-	13	1571	c.1304C>T	c.(1303-1305)cCa>cTa	p.P435L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	435	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						GTACTGGATTGGAGTCCAGCG	0.577000													89	167					0	0	0.003610	0	0
PIGR	5284	broad.mit.edu	37	1	207110943	207110943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207110943C>T	ENST00000356495.4	-	4	725	c.542G>A	c.(541-543)gGt>gAt	p.G181D		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	181	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATTTACATAACCACTGGAGTC	0.473000													11	44					0	0	0.008291	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	G	A	rs141225150	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:55136058G>A	ENST00000314706.3	+	1	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000													33	55					0	0	0.003755	0	0
ADH1B	125	broad.mit.edu	37	4	100237235	100237235	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:100237235C>T	ENST00000305046.8	-	5	454	c.387G>A	c.(385-387)agG>agA	p.R129R	ADH1B_ENST00000394887.3_Silent_p.R89R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	129					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)	AGGTGAACCTCCTGGTGCCAT	0.542000													16	45					0	0	0.008871	0	0
PTPRC	5788	broad.mit.edu	37	1	198703464	198703464	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:198703464G>A	ENST00000367376.2	+	22	2352	c.2181G>A	c.(2179-2181)agG>agA	p.R727R	PTPRC_ENST00000348564.6_Silent_p.R568R|PTPRC_ENST00000442510.2_Silent_p.R729R|PTPRC_ENST00000594404.1_Silent_p.R566R|PTPRC_ENST00000352140.3_Silent_p.R679R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	727	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAGGTCCCAGGGATGAAACTG	0.338000													151	582					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:176526002G>A	ENST00000367662.3	+	2	1708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E182K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	182					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E182K(2)|p.E182*(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCCTGAACGAACCCAAACC	0.587000													43	151					0	0	0.002222	0	0
CD177	57126	broad.mit.edu	37	19	43859701	43859701	+	RNA	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:43859701G>A	ENST00000378009.4	+	0	421				CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCCCCTTTGGGAAGGCTGAGC	0.512000													5	12					0	0	0.000602	0	0
EPHA7	2045	broad.mit.edu	37	6	94124437	94124437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:94124437G>A	ENST00000369303.4	-	2	330	c.146C>T	c.(145-147)tCc>tTc	p.S49F	EPHA7_ENST00000369297.1_Missense_Mutation_p.S49F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	49						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGTGGAGAGGAAATCCACTC	0.353000													23	50					0	0	0.004656	0	0
MACF1	23499	broad.mit.edu	37	1	39888178	39888178	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:39888178A>T	ENST00000564288.1	+	59	16726	c.15949A>T	c.(15949-15951)Aat>Tat	p.N5317Y	MACF1_ENST00000545844.1_Missense_Mutation_p.N3255Y|MACF1_ENST00000317713.7_Missense_Mutation_p.N3255Y|MACF1_ENST00000539005.1_Missense_Mutation_p.N3234Y|MACF1_ENST00000289893.4_Missense_Mutation_p.N3757Y|MACF1_ENST00000361689.2_Missense_Mutation_p.N3255Y|MACF1_ENST00000372915.3_Missense_Mutation_p.N5322Y|MACF1_ENST00000567887.1_Missense_Mutation_p.N5354Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5322					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAAGAGATCAATGCTCGATG	0.418000													15	33					0	0	0.004007	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:188924639C>T	ENST00000326866.4	+	4	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_ENST00000509524.1_Silent_p.F226F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000													35	58					0	0	0.004878	0	0
EFCAB14	9813	broad.mit.edu	37	1	47182005	47182005	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47182005T>C	ENST00000371933.3	-	2	1272	c.296A>G	c.(295-297)aAg>aGg	p.K99R	EFCAB14_ENST00000544071.1_Missense_Mutation_p.K99R	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		CAGATCCTCCTTGAGAGCAAC	0.423000													4	51					0	0	0.000248	0	0
OR4C3	256144	broad.mit.edu	37	11	48346626	48346626	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48346626A>G	ENST00000319856.4	+	1	155	c.134A>G	c.(133-135)aAc>aGc	p.N45S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCTCACAGAACTCAGAGGTA	0.453000													21	53					0	0	0.003330	0	0
CLVS1	157807	broad.mit.edu	37	8	62412051	62412051	+	Missense_Mutation	SNP	G	G	A	rs35623706		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:62412051G>A	ENST00000519846.1	+	7	1487	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000518592.1_Missense_Mutation_p.E60K|CLVS1_ENST00000325897.4_Missense_Mutation_p.E339K			Q8IUQ0	CLVS1_HUMAN	clavesin 1	339					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTGAAACATGAGGAGAAGGG	0.498000													17	45					0	0	0.004990	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832669	34832669	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:34832669C>T	ENST00000299505.6	+	10	2703	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	610										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTCAGAATTCCAGTAATACAG	0.453000													22	47					0	0	0.001882	0	0
OR4X2	119764	broad.mit.edu	37	11	48266730	48266730	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48266730C>T	ENST00000302329.3	+	1	123	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TATTTCTGTTCTTGTACACAG	0.453000													51	83					0	0	0.003610	0	0
RNF17	56163	broad.mit.edu	37	13	25349023	25349023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:25349023G>A	ENST00000255324.5	+	3	350	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	RNF17_ENST00000255325.5_Missense_Mutation_p.E100K|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E100K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	100					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTCCATAATGGAAAAACTGCA	0.323000													9	17					0	0	0.008291	0	0
PKHD1	5314	broad.mit.edu	37	6	51918899	51918899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:51918899C>T	ENST00000371117.3	-	20	2176	c.1901G>A	c.(1900-1902)gGc>gAc	p.G634D	PKHD1_ENST00000340994.4_Missense_Mutation_p.G634D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	634					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)					GTTTTGAAAGCCGATTGTGAA	0.473000													22	35					0	0	0.002780	0	0
XKR6	286046	broad.mit.edu	37	8	10782166	10782166	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10782166C>T	ENST00000416569.2	-	2	965	c.939G>A	c.(937-939)aaG>aaA	p.K313K	XKR6_ENST00000304437.2_Silent_p.K34K	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	313						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGGCGCTGTTCTTCTGGAGCA	0.657000													34	61					0	0	0.003755	0	0
ALB	213	broad.mit.edu	37	4	74279174	74279174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:74279174C>T	ENST00000295897.4	+	8	970	c.881C>T	c.(880-882)tCg>tTg	p.S294L	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.S102L|ALB_ENST00000401494.3_Missense_Mutation_p.S179L|ALB_ENST00000509063.1_Missense_Mutation_p.S294L|ALB_ENST00000503124.1_Missense_Mutation_p.S144L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	294	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.S294L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AATCAAGATTCGATCTCCAGT	0.423000													19	42					0	0	0.001882	0	0
KCNT1	57582	broad.mit.edu	37	9	138651645	138651645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:138651645G>A	ENST00000298480.5	+	11	1049	c.975G>A	c.(973-975)tgG>tgA	p.W325*	KCNT1_ENST00000263604.3_Nonsense_Mutation_p.W306*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.W325*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.W286*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.W292*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.W306*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.W306*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.W280*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	325						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGATCTGGCCATCGCAGC	0.637000													18	17					0	0	0.006122	0	0
CHAT	1103	broad.mit.edu	37	10	50859976	50859976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:50859976G>A	ENST00000395562.2	+	12	1781	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	CHAT_ENST00000395559.2_Missense_Mutation_p.G402R|CHAT_ENST00000339797.1_Missense_Mutation_p.G402R|CHAT_ENST00000337653.2_Missense_Mutation_p.G520R|CHAT_ENST00000351556.3_Missense_Mutation_p.G402R|CHAT_ENST00000455728.2_Missense_Mutation_p.G402R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	520					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGACAACTATGGGAAAACATT	0.418000													10	16					0	0	0.008291	0	0
TMCO4	255104	broad.mit.edu	37	1	20009900	20009900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:20009900G>A	ENST00000294543.6	-	16	1779	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.A513V|TMCO4_ENST00000375122.2_Missense_Mutation_p.A473V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	513						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)		CTTCAGGATGGCATCCATCTG	0.672000													7	21					0	0	0.001984	0	0
RGS22	26166	broad.mit.edu	37	8	101016247	101016247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:101016247G>A	ENST00000360863.6	-	17	2728	c.2534C>T	c.(2533-2535)cCt>cTt	p.P845L	RGS22_ENST00000523437.1_Missense_Mutation_p.P833L|RGS22_ENST00000523287.1_Missense_Mutation_p.P664L|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	845					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)			GTATTCTGCAGGAACATTATC	0.373000													24	39					0	0	0.003330	0	0
MYO15A	51168	broad.mit.edu	37	17	18023245	18023245	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:18023245C>T	ENST00000205890.5	+	2	1469	c.1131C>T	c.(1129-1131)acC>acT	p.T377T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	377	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCACTACACCGTCCCCTATG	0.597000													30	36					0	0	0.002836	0	0
LASP1	3927	broad.mit.edu	37	17	37046721	37046721	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:37046721C>T	ENST00000318008.6	+	3	544	c.213C>T	c.(211-213)aaC>aaT	p.N71N	LASP1_ENST00000433206.2_Intron|LASP1_ENST00000435347.3_Silent_p.N71N	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	71						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CCCCGGAAAACCTTCGCCTCA	0.622000			T	MLL	AML								19	68					0	0	0.001882	0	0
CLDN8	9073	broad.mit.edu	37	21	31587917	31587917	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:31587917C>T	ENST00000399899.1	-	1	474	c.327G>A	c.(325-327)ggG>ggA	p.G109G	CLDN8_ENST00000286809.1_Silent_p.G109G	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	109					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TCTCATTGTCCCCCGTGCACC	0.542000													11	19					0	0	0.008291	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:121469308G>A	ENST00000257570.5	-	3	864	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_ENST00000339275.5_Silent_p.F198F	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000													128	260					0	0	0.003610	0	0
SLC25A13	10165	broad.mit.edu	37	7	95813734	95813734	+	Silent	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:95813734A>C	ENST00000416240.2	-	11	1225	c.1035T>G	c.(1033-1035)acT>acG	p.T345T	SLC25A13_ENST00000542654.1_Silent_p.T236T|SLC25A13_ENST00000265631.5_Silent_p.T344T	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	344					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GATACACAGCAGTGGCTCCAA	0.373000													5	21					0	0	0.001168	0	0
DSC2	1824	broad.mit.edu	37	18	28662218	28662218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28662218G>A	ENST00000280904.6	-	9	1692	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F	DSC2_ENST00000251081.6_Missense_Mutation_p.L417F	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	417	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTACACAAAGAACTCCTTCA	0.289000													25	71					0	0	0.003954	0	0
EPRS	2058	broad.mit.edu	37	1	220162035	220162035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:220162035G>A	ENST00000366923.3	-	19	2941	c.2672C>T	c.(2671-2673)tCt>tTt	p.S891F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	891	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AGCAGGTTCAGAATTTCTGGT	0.433000													66	103					0	0	0.003610	0	0
TIMM44	10469	broad.mit.edu	37	19	8006055	8006055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:8006055G>A	ENST00000270538.3	-	2	341	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	25					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGGCTGGAAAGAAATTGGATT	0.547000													31	72					0	0	0.002096	0	0
KRT10	3858	broad.mit.edu	37	17	38976631	38976631	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38976631C>T	ENST00000269576.5	-	4	921	c.912G>A	c.(910-912)gtG>gtA	p.V304V	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	304	Gly-rich.|Linker 12.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CATTCATTTCCACATTCACAT	0.418000													36	103					0	0	0.006999	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805686	50805686	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:50805686A>C	ENST00000263046.4	+	6	1014		c.e6-1		TFAP2B_ENST00000393655.3_Splice_Site			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)						nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTGCAATTTCAGAGCCAAATC	0.413000													52	89					0	0	0.003610	0	0
ART4	420	broad.mit.edu	37	12	14993629	14993629	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:14993629G>A	ENST00000228936.4	-	2	984	c.603C>T	c.(601-603)acC>acT	p.T201T	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	201					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAATCGAATGGTGGCCCCTG	0.498000													19	37					0	0	0.008871	0	0
CD84	8832	broad.mit.edu	37	1	160523816	160523816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:160523816G>A	ENST00000368054.3	-	3	544	c.509C>T	c.(508-510)cCc>cTc	p.P170L	CD84_ENST00000368051.3_Missense_Mutation_p.P170L|CD84_ENST00000311224.4_Missense_Mutation_p.P170L|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Missense_Mutation_p.P170L|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.P56L	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	170	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTCCCAGGGGACTCCAATT	0.448000													30	133					0	0	0.001786	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312912	153312912	+	Missense_Mutation	SNP	G	G	A	rs142296774		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:153312912G>A	ENST00000368739.3	-	7	1115	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R257W			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	257					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGATGTCCCGGACCAGCAGG	0.542000													49	84					0	0	0.003610	0	0
CLU	1191	broad.mit.edu	37	8	27468013	27468013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:27468013C>T	ENST00000316403.10	-	2	481	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	CLU_ENST00000405140.3_Missense_Mutation_p.V26I|CLU_ENST00000546343.1_Missense_Mutation_p.V37I|CLU_ENST00000523500.1_Missense_Mutation_p.V26I|CLU_ENST00000560366.1_Missense_Mutation_p.V78I			P10909	CLUS_HUMAN	clusterin	26					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTGTCTGAGACCGTCTGGTCC	0.567000													29	54					0	0	0.001786	0	0
ZBTB41	360023	broad.mit.edu	37	1	197147566	197147566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:197147566G>A	ENST00000367405.4	-	6	1821	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R585C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTTCCATGACGAAAACTTTGC	0.299000													12	75					0	0	0.002450	0	0
FGD5	152273	broad.mit.edu	37	3	14939084	14939084	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:14939084G>A	ENST00000285046.5	+	5	2927	c.2817G>A	c.(2815-2817)cgG>cgA	p.R939R	FGD5_ENST00000543601.1_Silent_p.R698R|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	939	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATTGGCCCGGGAGGAGCTGA	0.552000													4	5					0	0	0.000248	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278422	36278422	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:36278422C>T	ENST00000007510.4	+	21	3099	c.2955C>T	c.(2953-2955)ccC>ccT	p.P985P	ARHGAP33_ENST00000314737.5_Silent_p.P824P|ARHGAP33_ENST00000378944.5_Silent_p.P849P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	985					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCAGCGGCCCATGGGGACCT	0.687000													10	16					0	0	0.000978	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630423	74630423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:74630423C>T	ENST00000358632.4	-	9	1677	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	CYP11A1_ENST00000268053.6_Missense_Mutation_p.E486K|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E328K	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	486					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGTTGGATTTCAACTCTGAAG	0.522000													31	61					0	0	0.002445	0	0
NR1H3	10062	broad.mit.edu	37	11	47282910	47282910	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:47282910C>T	ENST00000467728.1	+	4	1856	c.618C>T	c.(616-618)ctC>ctT	p.L206L	NR1H3_ENST00000407404.1_Silent_p.L206L|NR1H3_ENST00000405576.1_Silent_p.L161L|NR1H3_ENST00000441012.2_Silent_p.L206L|NR1H3_ENST00000405853.3_Silent_p.L206L|NR1H3_ENST00000481889.2_Silent_p.L161L|NR1H3_ENST00000527949.1_Silent_p.L115L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Silent_p.L161L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	206					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGCCCCAGCTCAGCCCGGAAC	0.597000													18	17					0	0	0.008871	0	0
DNAH10	196385	broad.mit.edu	37	12	124350589	124350589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:124350589G>A	ENST00000409039.3	+	40	6807	c.6782G>A	c.(6781-6783)tGg>tAg	p.W2261*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2261	AAA 2 (By similarity).				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)		CGACCATACTGGAAAAAATGG	0.343000													18	30					0	0	0.004990	0	0
SLIT2	9353	broad.mit.edu	37	4	20611778	20611778	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:20611778C>G	ENST00000504154.1	+	34	4087	c.3835C>G	c.(3835-3837)Ctc>Gtc	p.L1279V	SLIT2_ENST00000503823.1_Missense_Mutation_p.L1271V|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1292V|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1275V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1279	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.L1279I(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGACTCTCCACTCTATGTAGG	0.428000													14	33					0	0	0.004007	0	0
PDE3A	5139	broad.mit.edu	37	12	20766429	20766429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:20766429G>A	ENST00000359062.3	+	3	1104	c.1064G>A	c.(1063-1065)gGc>gAc	p.G355D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	355				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GAGGCCCACGGCCTCATTACC	0.542000													32	59					0	0	0.002445	0	0
MLIP	90523	broad.mit.edu	37	6	54095605	54095605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:54095605C>T	ENST00000502396.1	+	12	2844	c.2812C>T	c.(2812-2814)Ctc>Ttc	p.L938F	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.L403F			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	403						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCCACAGACCCTCTCACATGC	0.517000													86	168					0	0	0.003610	0	0
C4BPB	725	broad.mit.edu	37	1	207273196	207273196	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207273196G>A	ENST00000243611.5	+	6	975	c.681G>A	c.(679-681)aaG>aaA	p.K227K	C4BPB_ENST00000367076.3_Silent_p.K226K|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000367078.3_Silent_p.K227K|C4BPB_ENST00000391923.1_Silent_p.K227K	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	227					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AACAATTAAAGGAAAGTGGCA	0.393000													26	139					0	0	0.006320	0	0
GRM7	2917	broad.mit.edu	37	3	7494349	7494349	+	Silent	SNP	C	C	T	rs143220145	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:7494349C>T	ENST00000486284.1	+	6	1504	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	GRM7_ENST00000403881.1_Silent_p.F410F|GRM7_ENST00000402647.2_Silent_p.F410F|GRM7_ENST00000389336.4_Silent_p.F410F|GRM7_ENST00000357716.4_Silent_p.F410F|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	410					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAGTCCAGTTCGTGATTGACG	0.493000													17	32					0	0	0.004990	0	0
FMN2	56776	broad.mit.edu	37	1	240374416	240374416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240374416G>A	ENST00000319653.9	+	6	4176	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1316	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACTTATTTGGGAAAAAATTGA	0.328000													48	87					0	0	0.003610	0	0
OR56A4	120793	broad.mit.edu	37	11	6023368	6023368	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6023368G>A	ENST00000330728.4	-	1	1056	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGGAATGAGGTGGTGCA	0.488000													6	38					0	0	0.001168	0	0
UNC5C	8633	broad.mit.edu	37	4	96137344	96137344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:96137344G>A	ENST00000453304.1	-	10	2012	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	UNC5C_ENST00000506749.1_Missense_Mutation_p.P574L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	555	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGCCCCAGCGGGAATCAGCAA	0.448000													7	39					0	0	0.003080	0	0
DHX8	1659	broad.mit.edu	37	17	41571178	41571178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:41571178C>T	ENST00000262415.3	+	8	1208	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	DHX8_ENST00000540306.1_Missense_Mutation_p.P379L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	379						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GTCAGTGCTCCTGAAGTAGAG	0.517000													42	93					0	0	0.002852	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501933	140501933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:140501933G>A	ENST00000194152.1	+	1	353	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTTCAAGGAGAATTATTG	0.433000													23	23					0	0	0.001882	0	0
PKHD1	5314	broad.mit.edu	37	6	51890878	51890878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:51890878C>T	ENST00000371117.3	-	32	4005	c.3730G>A	c.(3730-3732)Gag>Aag	p.E1244K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E1244K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1244	IPT/TIG 7.				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)					ATGCTCGCCTCCGTTAAGTTC	0.587000													22	48					0	0	0.003954	0	0
COL23A1	91522	broad.mit.edu	37	5	177676175	177676175	+	Silent	SNP	C	C	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:177676175C>T	ENST00000390654.3	-	19	1449	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	364	Collagen-like 3.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTGGCCCAGGCTCTCCTGGGT	0.627000													85	252					0	0	0.003610	0	0
UNC5D	137970	broad.mit.edu	37	8	35647877	35647877	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:35647877G>A	ENST00000287272.2	+	16	2471	c.2450_splice	c.e16-1	p.R817_splice	UNC5D_ENST00000449677.1_Splice_Site_p.R462_splice|UNC5D_ENST00000420357.1_Splice_Site_p.R819_splice|UNC5D_ENST00000416672.1_Splice_Site_p.R891_splice|UNC5D_ENST00000453357.2_Splice_Site_p.R881_splice|UNC5D_ENST00000404895.2_Splice_Site_p.R886_splice			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	886					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTCCATCTAGGAATTTATCTT	0.363000													27	53					0	0	0.004656	0	0
KIF13A	63971	broad.mit.edu	37	6	17837293	17837293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:17837293G>A	ENST00000378814.5	-	11	970	c.971C>T	c.(970-972)tCt>tTt	p.S324F	KIF13A_ENST00000378843.2_Missense_Mutation_p.S324F|KIF13A_ENST00000378816.5_Missense_Mutation_p.S324F|KIF13A_ENST00000378826.2_Missense_Mutation_p.S324F|KIF13A_ENST00000259711.6_Missense_Mutation_p.S324F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	324					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGCTATCATAGAGGTTTGGCT	0.458000													174	124					0	0	0.003610	0	0
CCDC60	160777	broad.mit.edu	37	12	119909856	119909856	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:119909856G>A	ENST00000327554.2	+	3	693	c.228G>A	c.(226-228)gaG>gaA	p.E76E	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	76										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGAGGGAAGAGACTGCAAAGA	0.453000													40	79					0	0	0.002522	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919714	142919714	+	Silent	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142919714G>A	ENST00000408947.3	+	1	585	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	181					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T181T(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCAACTCCACGGAGAAGAAGT	0.458000													57	96					0	0	0.003610	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774476	89774476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:89774476G>A	ENST00000448984.1	+	8	1446	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	373	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GAAGATAGATGGAAAGGAGGG	0.423000													9	38					0	0	0.008291	0	0
CXCR6	10663	broad.mit.edu	37	3	45988619	45988620	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:45988619_45988620delAA	ENST00000458629.1	+	1	2109_2110	c.646_647delAA	c.(646-648)afs	p.K216fs	CXCR6_ENST00000304552.4_Frame_Shift_Del_p.K216fs|CXCR6_ENST00000438735.1_Frame_Shift_Del_p.K216fs|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Frame_Shift_Del_p.K216fs|FYCO1_ENST00000296137.2_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	216					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGTCATAATCAAAACACTGCTT	0.495													38	118	---	---	---	---					
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482272	159482274	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:159482272_159482274delGCA	ENST00000337808.6	+	2	681_683	c.104_106delGCA	c.(103-108)ggc>g	p.GS35del	IQCJ-SCHIP1_ENST00000476809.1_In_Frame_Del_p.GS84del|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000460298.1_In_Frame_Del_p.GS8del|IQCJ-SCHIP1_ENST00000485419.1_In_Frame_Del_p.GS111del|IQCJ-SCHIP1_ENST00000412423.2_In_Frame_Del_p.GS35del	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		35	Ser-rich.					cytoplasm	identical protein binding|protein binding	p.S41delS(1)|p.S117delS(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGTGACGCCGgcagcagcagcag	0.635													4	6	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													8	35	---	---	---	---					
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													6	9	---	---	---	---					
SNAP91	9892	broad.mit.edu	37	6	84371317	84371324	+	Splice_Site	DEL	TCATAACC	TCATAACC	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:84371317_84371324delTCATAACC	ENST00000428679.2	-	5	943_949	c.349_splice	c.e5-1	p.117_splice	SNAP91_ENST00000437520.1_Splice_Site_p.117_splice|SNAP91_ENST00000439399.2_Splice_Site_p.117_splice|SNAP91_ENST00000521485.1_Splice_Site_p.117_splice|SNAP91_ENST00000520302.1_Splice_Site_p.117_splice|SNAP91_ENST00000520213.1_Splice_Site_p.117_splice|SNAP91_ENST00000369694.2_Splice_Site_p.117_splice|SNAP91_ENST00000521743.1_Splice_Site_p.117_splice|SNAP91_ENST00000195649.6_Splice_Site_p.117_splice			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	117	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGTAGACATATCATAACCTGGGAGAGTG	0.341													9	44	---	---	---	---					
NYAP1	222950	broad.mit.edu	37	7	100084786	100084787	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100084786_100084787insC	ENST00000423930.1	+	3	570_571	c.411_412insC	c.(409-414)acccccfs	p.TP137fs	NYAP1_ENST00000300179.2_Frame_Shift_Ins_p.TP137fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.TP80fs			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	137																	GGGCAGAGACGCCCCCCAGCAA	0.668													9	23	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	-	GCCGCC			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:103629803_103629804insGCCGCC	ENST00000424685.2	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000428762.1_Start_Codon_Ins			P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													6	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578267	7578267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:7578267delA	ENST00000420246.2	-	6	714	c.582delT	c.(580-582)ctfs	p.L194fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(6)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*52(3)|p.P191_E198>Q(3)|p.I63fs*>28(1)|p.I195fs*14(1)|p.L194fs*52(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACTCGGATAAGATGCTGAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	15	---	---	---	---					
GNA11	2767	broad.mit.edu	37	19	3119233	3119233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:3119233delC	ENST00000078429.4	+	6	1007	c.765delC	c.(763-765)ttfs	p.F255fs	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	255					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGCCCTGTTCCGGACCATCA	0.612			Mis		uveal melanoma								47	74	---	---	---	---					
