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
NLRP8	126205	broad.mit.edu	37	19	56466832	56466832	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56466832G>A	ENST00000291971.3	+	3	1479	c.1408G>A	c.(1408-1410)Ggt>Agt	p.G470S	NLRP8_ENST00000590542.1_Missense_Mutation_p.G470S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	470	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)		ATGGGTGTTAGGTAAAGAAGA	0.507000													25	112					0	0	0.004656	0	0
RYR3	6263	broad.mit.edu	37	15	33835881	33835881	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:33835881G>A	ENST00000389232.4	+	8	775	c.705G>A	c.(703-705)acG>acA	p.T235T	RYR3_ENST00000415757.3_Silent_p.T235T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	235	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATGTTTGACGATACCATCTA	0.403000													48	94					0	0	0.003610	0	0
C8A	731	broad.mit.edu	37	1	57351831	57351831	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:57351831G>A	ENST00000361249.3	+	7	1183	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	363	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCAAAAATGGAATCCCTTGG	0.418000													10	37					0	0	0.000673	0	0
UGDH	7358	broad.mit.edu	37	4	39510231	39510231	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:39510231G>A	ENST00000316423.6	-	7	1203	c.861C>T	c.(859-861)ctC>ctT	p.L287L	UGDH_ENST00000506179.1_Silent_p.L287L|UGDH_ENST00000507089.1_Silent_p.L190L|UGDH_ENST00000501493.2_Silent_p.L220L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	287					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAGCCTCACAGAGATAAACCA	0.388000													22	21					0	0	0.005443	0	0
ENPEP	2028	broad.mit.edu	37	4	111469345	111469345	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:111469345G>A	ENST00000265162.5	+	14	2356	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	672					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAACTTCTAGATTATAAGGT	0.308000													8	7					0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228469852	228469852	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:228469852G>A	ENST00000570156.2	+	36	9777	c.9703G>A	c.(9703-9705)Gag>Aag	p.E3235K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2806K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1653K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2806K|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2269	Ig-like 32.				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)				TGATGCCGGGGAGGTGGTCTT	0.647000													7	55					0	0	0.000443	0	0
TNPO1	3842	broad.mit.edu	37	5	72178914	72178914	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:72178914G>A	ENST00000337273.5	+	11	1431	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	TNPO1_ENST00000523768.1_Silent_p.T285T|TNPO1_ENST00000506351.2_Silent_p.T327T|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000454282.1_Silent_p.T285T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	335					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGACGAAACGATTCCTGATA	0.403000													36	81					0	0	0.001951	0	0
ASTN1	460	broad.mit.edu	37	1	176998790	176998790	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:176998790C>T	ENST00000367654.2	-	5	1113	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	ASTN1_ENST00000424564.2_Missense_Mutation_p.R367K|ASTN1_ENST00000367657.3_Missense_Mutation_p.R367K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R367K			O14525	ASTN1_HUMAN	astrotactin 1	367					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTCCTGCTCCTTGAAGGATC	0.547000													6	48					0	0	0.001984	0	0
IGSF10	285313	broad.mit.edu	37	3	151165675	151165675	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:151165675G>A	ENST00000282466.3	-	4	2093	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	698					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATGTACGGAGTTGTGCAC	0.493000													14	41					0	0	0.002450	0	0
RIC3	79608	broad.mit.edu	37	11	8161624	8161624	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:8161624C>T	ENST00000343202.4	-	2	306	c.241G>A	c.(241-243)Gga>Aga	p.G81R	RIC3_ENST00000419822.2_Missense_Mutation_p.G81R|RIC3_ENST00000309737.6_Missense_Mutation_p.G81R|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Missense_Mutation_p.G32R|RIC3_ENST00000425599.2_Missense_Mutation_p.G81R	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	81	Poly-Gly.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCACCTGATCCTTTGGCCTTT	0.502000													56	30					0	0	0.003610	0	0
TMEM144	55314	broad.mit.edu	37	4	159133876	159133876	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:159133876C>T	ENST00000514558.1	+	2	1853	c.57C>T	c.(55-57)atC>atT	p.I19I	TMEM144_ENST00000296529.6_Silent_p.I19I|TMEM144_ENST00000509278.1_Silent_p.I19I			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	19						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TTGTAGCTATCCTTTTGTTTG	0.328000													11	44					0	0	0.000978	0	0
FREM1	158326	broad.mit.edu	37	9	14805030	14805030	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:14805030G>A	ENST00000380881.4	-	20	4213	c.3398C>T	c.(3397-3399)tCc>tTc	p.S1133F	FREM1_ENST00000380880.3_Missense_Mutation_p.S1132F|FREM1_ENST00000422223.2_Missense_Mutation_p.S1132F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1132					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)		TATCTCCAAGGAGTGATGCTT	0.418000													44	49					0	0	0.001951	0	0
CLVS2	134829	broad.mit.edu	37	6	123369776	123369776	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:123369776C>T	ENST00000275162.4	+	4	1909	c.574C>T	c.(574-576)Cca>Tca	p.P192S	CLVS2_ENST00000368438.1_Missense_Mutation_p.P46S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	192	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						GGATAGTTTCCCAGCGCGATT	0.378000													100	13					0	0	0.003610	0	0
KANK2	25959	broad.mit.edu	37	19	11289134	11289134	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:11289134G>A	ENST00000432929.2	-	6	1791	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	KANK2_ENST00000589359.1_Silent_p.S477S|KANK2_ENST00000355150.5_Intron|KANK2_ENST00000586659.1_Intron|KANK2_ENST00000589894.1_Intron	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	472										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGGAGGGGAGGACAGCGGAG	0.677000													29	20					0	0	0.001786	0	0
IL12B	3593	broad.mit.edu	37	5	158750203	158750203	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:158750203G>A	ENST00000231228.2	-	3	678	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	75	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGATGGTCAGGGTTTTGCCA	0.527000													14	37					0	0	0.002450	0	0
TRGV8	6982	broad.mit.edu	37	7	38370227	38370227	+	RNA	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:38370227C>G	ENST00000390343.2	-	0	184																											CTTTGTTCTCCCTTCCAAGTT	0.433000													15	63					0	0	0.002450	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049243	36049243	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:36049243G>A	ENST00000282507.3	-	4	692	c.591C>T	c.(589-591)ttC>ttT	p.F197F	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.F163F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	197						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCGGCCCCAGAAGTCCATGT	0.448000													25	46					0	0	0.003954	0	0
KCNH7	90134	broad.mit.edu	37	2	163292069	163292069	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:163292069G>A	ENST00000332142.5	-	8	1692	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	KCNH7_ENST00000328032.4_Silent_p.L524L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	531					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAGACGGAGGAGTCGGGCAG	0.433000													9	35					0	0	0.000673	0	0
CNTN4	152330	broad.mit.edu	37	3	2967459	2967459	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:2967459G>A	ENST00000397461.1	+	12	1738	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.E124K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E452K|CNTN4_ENST00000418658.1_Missense_Mutation_p.E452K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E233K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E124K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	452	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAGAAAATGAAAGGTACTG	0.368000													44	29					0	0	0.002852	0	0
YES1	7525	broad.mit.edu	37	18	736817	736817	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:736817C>T	ENST00000584307.1	-	10	1452	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T	YES1_ENST00000577961.1_Missense_Mutation_p.A433T|RP11-769O8.1_ENST00000583314.1_RNA|YES1_ENST00000314574.4_Missense_Mutation_p.A428T			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	428	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CCTTGTCTTGCTGTGTATTCA	0.348000													11	55					0	0	0.000978	0	0
COL4A2	1284	broad.mit.edu	37	13	111109756	111109756	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:111109756G>A	ENST00000360467.5	+	21	1712	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	469	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTCCCCTGGAGCCCGCGGA	0.577000													4	22					0	0	0.000248	0	0
EXT2	2132	broad.mit.edu	37	11	44130788	44130788	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:44130788G>A	ENST00000395673.3	+	3	736	c.680G>A	c.(679-681)gGa>gAa	p.G227E	EXT2_ENST00000533608.1_Missense_Mutation_p.G194E|EXT2_ENST00000343631.3_Missense_Mutation_p.G194E|EXT2_ENST00000358681.4_Missense_Mutation_p.G194E|EXT2_ENST00000529186.1_3'UTR	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	194			D -> N (in EXT2; can still form an oligomeric complex).		glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTGCCTGGAGGTCCCCCA	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				15	52					0	0	0.006122	0	0
CHI3L1	1116	broad.mit.edu	37	1	203152902	203152902	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:203152902G>A	ENST00000255409.3	-	5	457	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	111					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTGGGTGTTGGAGGCTATCTT	0.562000													15	92					0	0	0.006122	0	0
NBEA	26960	broad.mit.edu	37	13	35770382	35770382	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:35770382C>T	ENST00000540320.1	+	31	5843	c.5309C>T	c.(5308-5310)cCa>cTa	p.P1770L	NBEA_ENST00000400445.3_Missense_Mutation_p.P1770L|NBEA_ENST00000310336.4_Missense_Mutation_p.P1770L|NBEA_ENST00000379939.2_Missense_Mutation_p.P1767L			Q8NFP9	NBEA_HUMAN	neurobeachin	1770						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACCCAGATCCAGCATTGAAG	0.408000													21	19					0	0	0.001882	0	0
OR10K1	391109	broad.mit.edu	37	1	158435715	158435715	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158435715C>T	ENST00000289451.2	+	1	444	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		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)					GGGCTATGATCGCTATATGGC	0.527000													33	181					0	0	0.002445	0	0
CRISP2	7180	broad.mit.edu	37	6	49666136	49666136	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:49666136A>T	ENST00000339139.4	-	7	592	c.356T>A	c.(355-357)cTa>cAa	p.L119Q		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	119						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GACAAAATCTAGGATCTCGTC	0.418000													20	66					0	0	0.001523	0	0
NOX1	27035	broad.mit.edu	37	X	100104847	100104847	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:100104847C>T	ENST00000372966.3	-	10	1415	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	NOX1_ENST00000217885.5_Missense_Mutation_p.G404R|NOX1_ENST00000372960.4_Missense_Mutation_p.G367R|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	404	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACCCCAATTCCTGCTCCAACC	0.468000													13	0					0	0	0.001368	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345121	135345121	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:135345121G>A	ENST00000463117.2	+	5	642	c.370G>A	c.(370-372)Gac>Aac	p.D124N	CYP2E1_ENST00000252945.3_Missense_Mutation_p.D124N|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	124					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TACCTGGAAGGACATCCGGCG	0.532000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				58	15					0	0	0.003610	0	0
SYDE2	84144	broad.mit.edu	37	1	85634895	85634895	+	Silent	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:85634895A>G	ENST00000341460.5	-	5	2734	c.2685T>C	c.(2683-2685)gaT>gaC	p.D895D		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	895	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTAAATAATCCTTAAGAA	0.333000													39	86					0	0	0.001485	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049814	69049814	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:69049814G>A	ENST00000295381.3	+	10	1959	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E475K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E208K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E508K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E507K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E515K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	514					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTCCCCTGGGGAGGAAGCCAG	0.547000													25	86					0	0	0.003954	0	0
TECTA	7007	broad.mit.edu	37	11	121000744	121000744	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:121000744C>T	ENST00000392793.1	+	10	3036	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F	TECTA_ENST00000264037.2_Missense_Mutation_p.S922F			O75443	TECTA_HUMAN	tectorin alpha	922	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCAACAGCTCCTTCCTGGAG	0.582000													15	47					0	0	0.003163	0	0
HSPA4L	22824	broad.mit.edu	37	4	128717042	128717042	+	Silent	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:128717042T>G	ENST00000296464.3	+	3	696	c.285T>G	c.(283-285)ccT>ccG	p.P95P	HSPA4L_ENST00000508776.1_Silent_p.P95P|HSPA4L_ENST00000505726.1_Silent_p.P69P|HSPA4L_ENST00000439123.2_Silent_p.P126P	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	95					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGAAAATGCCTAATGGAAGTG	0.368000													36	24					0	0	0.001287	0	0
ZNF385D	79750	broad.mit.edu	37	3	21465518	21465518	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:21465518C>T	ENST00000281523.2	-	7	1409	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	297						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						TCGGGGGCTTCCCAGCAGCTC	0.413000													39	97					0	0	0.001951	0	0
ATXN10	25814	broad.mit.edu	37	22	46134706	46134706	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:46134706G>A	ENST00000252934.5	+	8	1255	c.990G>A	c.(988-990)ctG>ctA	p.L330L	ATXN10_ENST00000381061.4_Silent_p.L266L	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	330					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTGGCTTGCTGGAAAGAGTGA	0.408000													19	71					0	0	0.002299	0	0
CDH18	1016	broad.mit.edu	37	5	19483633	19483633	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:19483633C>T	ENST00000507958.1	-	14	2649	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Silent_p.R553R|CDH18_ENST00000274170.4_Silent_p.R553R			Q13634	CAD18_HUMAN	cadherin 18, type 2	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAAATCTCCTCCGCCTTGTCA	0.438000													11	30					0	0	0.001368	0	0
PAM	5066	broad.mit.edu	37	5	102310054	102310054	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:102310054C>T	ENST00000438793.3	+	14	1867	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	PAM_ENST00000274392.9_Missense_Mutation_p.S369F|PAM_ENST00000455264.2_Missense_Mutation_p.S466F|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.S466F|PAM_ENST00000348126.2_Intron|PAM_ENST00000346918.2_Missense_Mutation_p.S466F	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	466	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGACTAGTATCTACCTTGAGG	0.502000													19	57					0	0	0.000958	0	0
FECH	2235	broad.mit.edu	37	18	55230187	55230187	+	Silent	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:55230187T>C	ENST00000262093.5	-	6	775	c.624A>G	c.(622-624)agA>agG	p.R208R	FECH_ENST00000382873.3_Silent_p.R214R	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	208					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GATTATAGTATCTGTAAATGG	0.438000													16	30					0	0	0.004007	0	0
TENM1	10178	broad.mit.edu	37	X	123519813	123519813	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:123519813G>A	ENST00000422452.2	-	29	5853	c.5790C>T	c.(5788-5790)agC>agT	p.S1930S	TENM1_ENST00000371130.3_Silent_p.S1923S|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGGTTTGTAAGCTGTGACGCA	0.502000													35	0					0	0	0.003755	0	0
SPANXN4	441525	broad.mit.edu	37	X	142121938	142121938	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:142121938A>T	ENST00000370504.3	+	2	286	c.203A>T	c.(202-204)aAt>aTt	p.N68I	SPANXN4_ENST00000446864.1_Missense_Mutation_p.N69I			Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	69										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGAGAATAACCAGCCT	0.408000													3	0					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179423192	179423192	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179423192G>A	ENST00000589042.1	-	327	87218	c.86994C>T	c.(86992-86994)acC>acT	p.T28998T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T27357T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T26430T|TTN_ENST00000460472.2_Silent_p.T19933T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.T20058T|TTN_ENST00000342175.6_Silent_p.T20125T|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27357	Fibronectin type-III 111.		L -> V.				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)			CAACGTGATGGGTTGACTTTG	0.453000													18	42					0	0	0.006122	0	0
ME3	10873	broad.mit.edu	37	11	86157399	86157399	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:86157399C>T	ENST00000543262.1	-	13	1837	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	ME3_ENST00000359636.2_Missense_Mutation_p.G504E|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.G504E	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	504					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GTGCCGGATCCCGCCGGCGAT	0.552000													25	59					0	0	0.005443	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626705	108626705	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:108626705C>T	ENST00000264047.2	+	9	1407	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	SLC5A7_ENST00000540517.1_Silent_p.I272I|SLC5A7_ENST00000409059.1_Silent_p.I377I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	377					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAAAGAAATCGTTTGGGTTA	0.443000													16	44					0	0	0.006122	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073137	17073137	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:17073137C>T	ENST00000359963.3	-	1	563	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	102					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGCCGTCCCCACTATTCTCT	0.662000													11	34					0	0	0.000978	0	0
SHANK1	50944	broad.mit.edu	37	19	51165652	51165652	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:51165652G>A	ENST00000293441.1	-	23	6074	c.6056C>T	c.(6055-6057)tCc>tTc	p.S2019F	SHANK1_ENST00000391813.1_Missense_Mutation_p.S1406F|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000359082.3_Missense_Mutation_p.S2010F|SHANK1_ENST00000391814.1_Missense_Mutation_p.S2027F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2019					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)		GATGGGCAGGGACGAGGGCCT	0.716000													12	16					0	0	0.000978	0	0
PCSK7	9159	broad.mit.edu	37	11	117089803	117089803	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:117089803G>A	ENST00000320934.3	-	11	2031	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	PCSK7_ENST00000540028.1_Silent_p.L108L	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	467	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCAGGCGTTGAGGAGGCCGA	0.602000			T	IGH@	MLCLS								14	11					0	0	0.003163	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289124	98289124	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:98289124G>A	ENST00000322128.3	-	1	1052	c.949C>T	c.(949-951)Cct>Tct	p.P317S		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	317					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGCCAGAAGGACCACACCCA	0.502000													14	82					0	0	0.002450	0	0
DGKD	8527	broad.mit.edu	37	2	234356786	234356786	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234356786C>T	ENST00000264057.2	+	13	1485	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	DGKD_ENST00000409813.3_Silent_p.I447I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	491					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTTCTAAAATCCTCACCTCGG	0.592000													25	44					0	0	0.001271	0	0
C10orf67	256815	broad.mit.edu	37	10	23611392	23611392	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:23611392T>G	ENST00000323327.4	-	3	472	c.405A>C	c.(403-405)aaA>aaC	p.K135N		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	135										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						AAGATTCCTCTTTCAGTCGGT	0.353000													30	41					0	0	0.003271	0	0
C10orf128	170371	broad.mit.edu	37	10	50396346	50396346	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:50396346G>A	ENST00000374148.1	-	1	90	c.36C>T	c.(34-36)ttC>ttT	p.F12F	C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000474718.1_Silent_p.F12F|C10orf128_ENST00000374151.3_Silent_p.F12F|C10orf128_ENST00000374153.2_Silent_p.F12F			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	12						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						TACCCAGGAGGAAGAGGATCC	0.632000													17	15					0	0	0.001216	0	0
RUFY4	285180	broad.mit.edu	37	2	218940293	218940293	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:218940293G>A	ENST00000374155.3	+	8	1548	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.G360R|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	360							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGCAGTATCAGGGAGCAGGCA	0.597000													7	22					0	0	0.003080	0	0
LPAR1	1902	broad.mit.edu	37	9	113703936	113703936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:113703936C>T	ENST00000374431.3	-	4	941	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W186*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W187*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W186*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W187*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGATACAGTTCCAGCCCACAC	0.498000													52	7					0	0	0.003610	0	0
EDNRA	1909	broad.mit.edu	37	4	148406970	148406970	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:148406970G>A	ENST00000324300.5	+	2	652	c.137G>A	c.(136-138)aGc>aAc	p.S46N	EDNRA_ENST00000339690.5_Missense_Mutation_p.S46N|EDNRA_ENST00000506066.1_Missense_Mutation_p.S46N|EDNRA_ENST00000358556.4_Missense_Mutation_p.S46N|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	46					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	ACAGAGCTCAGCTTCCTGGTT	0.443000													19	35					0	0	0.000958	0	0
C20orf26	26074	broad.mit.edu	37	20	20341038	20341038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:20341038G>A	ENST00000245957.5	+	27	3774	c.3698G>A	c.(3697-3699)tGg>tAg	p.W1233*	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1233										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGTACGCGTGGCCAGGCATC	0.463000											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	87					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679151	176679151	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:176679151G>A	ENST00000367662.3	+	11	4654	c.3490G>A	c.(3490-3492)Gat>Aat	p.D1164N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1164					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						GTATGAGGGAGATGGCATATG	0.423000													36	152					0	0	0.001706	0	0
GFM2	84340	broad.mit.edu	37	5	74046440	74046440	+	Silent	SNP	A	A	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:74046440A>C	ENST00000296805.3	-	7	940	c.483T>G	c.(481-483)ggT>ggG	p.G161G	GFM2_ENST00000345239.2_Silent_p.G161G|GFM2_ENST00000509430.1_Silent_p.G161G|GFM2_ENST00000427854.2_Silent_p.G161G	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	161					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAGCCACTGCACCATCCAACA	0.378000													14	36					0	0	0.004990	0	0
SNURF	8926	broad.mit.edu	37	15	25207312	25207312	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:25207312A>T	ENST00000338094.6	+	2	127	c.66A>T	c.(64-66)gaA>gaT	p.E22D	SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.E22D|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.E22D|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CAGAGGTGGAAGTCCAAGTCA	0.458000													18	30					0	0	0.001216	0	0
SYDE2	84144	broad.mit.edu	37	1	85624434	85624434	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:85624434C>G	ENST00000341460.5	-	7	3633	c.3584G>C	c.(3583-3585)tGa>tCa	p.*1195S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	0					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CCCTCAATCTCAAAAACTCAT	0.299000													7	5					0	0	0.003080	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52855044	52855044	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:52855044G>A	ENST00000451298.1	-	0	385				RP11-64P12.8_ENST00000606031.1_RNA																							TGAGCCAGATGAAAAACTCTT	0.328000													3	6					0	0	0.004672	0	0
MME	4311	broad.mit.edu	37	3	154855984	154855984	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:154855984G>A	ENST00000460393.1	+	9	934	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	MME_ENST00000493237.1_Missense_Mutation_p.E272K|MME_ENST00000462745.1_Missense_Mutation_p.E272K|MME_ENST00000492661.1_Missense_Mutation_p.E272K|MME_ENST00000360490.2_Missense_Mutation_p.E272K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	272					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCTTGCTTTGGAAATGAATAA	0.358000													55	39					0	0	0.003610	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282464	28282464	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:28282464C>T	ENST00000373894.3	+	7	1067	c.876C>T	c.(874-876)gtC>gtT	p.V292V	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.V244V|SMPDL3B_ENST00000373888.4_Silent_p.V292V	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	292					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGACAGGTGTCCCCATAAGCG	0.567000													8	29					0	0	0.000443	0	0
TDRD5	163589	broad.mit.edu	37	1	179587780	179587780	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:179587780G>A	ENST00000444136.1	+	5	1128	c.878G>A	c.(877-879)gGa>gAa	p.G293E	TDRD5_ENST00000367614.1_Missense_Mutation_p.G293E|TDRD5_ENST00000294848.8_Missense_Mutation_p.G293E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	293					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						GGACCTGGAGGAACTATCAGT	0.313000													27	114					0	0	0.002445	0	0
USP6	9098	broad.mit.edu	37	17	5040009	5040009	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:5040009C>T	ENST00000574788.1	+	18	2969	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	USP6_ENST00000250066.6_Missense_Mutation_p.P247S|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.P247S			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	247	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGTCACAACCCAAGACCAT	0.587000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								53	142					0	0	0.003610	0	0
ABCC3	8714	broad.mit.edu	37	17	48746818	48746818	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:48746818C>T	ENST00000285238.8	+	17	2250	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	724	ABC transporter 1.				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)	CCAGCAGACTCTGGAGGCCTG	0.567000													27	75					0	0	0.001271	0	0
TCOF1	6949	broad.mit.edu	37	5	149755438	149755438	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:149755438G>A	ENST00000451292.1	+	12	1967	c.1859G>A	c.(1858-1860)aGt>aAt	p.S620N	TCOF1_ENST00000394269.3_Missense_Mutation_p.S620N|TCOF1_ENST00000513346.1_Missense_Mutation_p.S620N|TCOF1_ENST00000445265.2_Missense_Mutation_p.S543N|TCOF1_ENST00000377797.3_Missense_Mutation_p.S620N|TCOF1_ENST00000323668.7_Missense_Mutation_p.S543N|TCOF1_ENST00000504761.2_Missense_Mutation_p.S620N|TCOF1_ENST00000439160.2_Missense_Mutation_p.S620N			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	620					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCGGACAGTGAGGAGGCA	0.642000													16	15					0	0	0.006122	0	0
COBLL1	22837	broad.mit.edu	37	2	165551195	165551195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:165551195C>T	ENST00000375458.2	-	11	2928	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	COBLL1_ENST00000392717.2_Missense_Mutation_p.E979K|COBLL1_ENST00000342193.4_Missense_Mutation_p.E941K|COBLL1_ENST00000409184.3_Missense_Mutation_p.E941K|COBLL1_ENST00000194871.6_Missense_Mutation_p.E1008K	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	979										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTTTCTGCCTCTTTATTTGTC	0.473000													17	32					0	0	0.001216	0	0
IFIH1	64135	broad.mit.edu	37	2	163128755	163128755	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:163128755G>A	ENST00000263642.2	-	13	2992	c.2597C>T	c.(2596-2598)cCa>cTa	p.P866L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	866	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATACTCCTCTGGTTTCATATT	0.378000													16	9					0	0	0.006122	0	0
ASTN1	460	broad.mit.edu	37	1	176998789	176998789	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:176998789C>T	ENST00000367654.2	-	5	1114	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	ASTN1_ENST00000424564.2_Silent_p.R367R|ASTN1_ENST00000367657.3_Silent_p.R367R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.R367R			O14525	ASTN1_HUMAN	astrotactin 1	367					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCTCCTGCTCCTTGAAGGAT	0.547000													5	50					0	0	0.001168	0	0
NUP210	23225	broad.mit.edu	37	3	13378341	13378341	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:13378341G>A	ENST00000254508.5	-	27	3712	c.3630C>T	c.(3628-3630)ttC>ttT	p.F1210F	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1210					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGACCAGTGGAAGGTCAGGC	0.627000													26	63					0	0	0.004656	0	0
MAEL	84944	broad.mit.edu	37	1	166985495	166985495	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:166985495T>G	ENST00000367872.4	+	9	1126	c.882T>G	c.(880-882)tgT>tgG	p.C294W	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.C263W	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	294					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTCTCTTCTGTGCTTTAGCTG	0.348000													20	109					0	0	0.003330	0	0
OR13A1	79290	broad.mit.edu	37	10	45799226	45799226	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:45799226G>A	ENST00000553795.1	-	4	953	c.645C>T	c.(643-645)gtC>gtT	p.V215V	OR13A1_ENST00000374401.2_Silent_p.V215V|OR13A1_ENST00000536058.1_Silent_p.V215V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GGACAATCATGACACCGTTGA	0.532000													36	5					0	0	0.003271	0	0
SRRM2	23524	broad.mit.edu	37	16	2815820	2815820	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:2815820C>T	ENST00000301740.8	+	11	5840	c.5291C>T	c.(5290-5292)tCg>tTg	p.S1764L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1764	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCTCTCCTTCGCCAAAGCCT	0.572000													20	38					0	0	0.003330	0	0
KDM3B	51780	broad.mit.edu	37	5	137761238	137761238	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:137761238C>T	ENST00000314358.5	+	17	4578	c.4378C>T	c.(4378-4380)Cgg>Tgg	p.R1460W	KDM3B_ENST00000542866.1_Missense_Mutation_p.R492W|KDM3B_ENST00000394866.1_Missense_Mutation_p.R1116W	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1460					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTGAAAGTTCGGGATTTCTG	0.443000													48	7					0	0	0.003610	0	0
PARP15	165631	broad.mit.edu	37	3	122335962	122335962	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:122335962G>A	ENST00000483793.1	+	4	613	c.573G>A	c.(571-573)caG>caA	p.Q191Q	PARP15_ENST00000464300.2_Silent_p.Q317Q|PARP15_ENST00000493645.1_Silent_p.Q83Q|PARP15_ENST00000310366.4_Silent_p.Q83Q|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	366	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CCACTGAACAGGTAGATGTTA	0.358000													59	39					0	0	0.003610	0	0
VKORC1	79001	broad.mit.edu	37	16	31106959	31106959	+	Silent	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:31106959T>C	ENST00000498155.1	-	1	342	c.21A>G	c.(19-21)ggA>ggG	p.G7G				Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CTTGACAGTATCCTAACCTCT	0.557000													32	24					0	0	0.003271	0	0
LAMB4	22798	broad.mit.edu	37	7	107669562	107669562	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:107669562C>T	ENST00000388781.3	-	33	5155	c.5072G>A	c.(5071-5073)gGa>gAa	p.G1691E	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1691E|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1691E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1691	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTAACTTTTCCTAATGTCTC	0.388000													40	41					0	0	0.001951	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396196	1396196	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:1396196C>T	ENST00000378785.2	+	10	1874	c.879C>T	c.(877-879)gaC>gaT	p.D293D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	293							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)		CCTGCATCGACGTGATGGTCC	0.607000													14	8					0	0	0.001855	0	0
USH2A	7399	broad.mit.edu	37	1	215848206	215848206	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:215848206G>A	ENST00000366943.2	-	63	13433	c.13047C>T	c.(13045-13047)atC>atT	p.I4349I	USH2A_ENST00000307340.3_Silent_p.I4349I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4349	Fibronectin type-III 28.				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)		CCAGAGTTGTGATGCTGGTGG	0.512000										HNSCC(13;0.011)			63	19					0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10464636	10464636	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:10464636C>T	ENST00000382483.3	-	4	7195	c.6972G>A	c.(6970-6972)agG>agA	p.R2324R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2324					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)		CATCAGGGCTCCTTGTGTCTC	0.562000													69	103					0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154593139	154593139	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:154593139G>A	ENST00000404039.1	+	13	1769	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	DPP6_ENST00000427557.1_Silent_p.G351G|DPP6_ENST00000332007.3_Silent_p.G396G|DPP6_ENST00000377770.3_Silent_p.G458G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	458					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGGACGAGGGAAATTCTATC	0.532000													5	8					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9060067	9060067	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9060067G>A	ENST00000397910.4	-	3	27582	c.27379C>T	c.(27379-27381)Cct>Tct	p.P9127S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9129	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						ACATCTCCAGGAGTTCTACTC	0.488000													13	39					0	0	0.001368	0	0
EP400NL	347918	broad.mit.edu	37	12	132589002	132589002	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:132589002C>T	ENST00000376625.4	+	1	463	c.437C>T	c.(436-438)cCt>cTt	p.P146L	EP400NL_ENST00000361109.5_Intron|EP400NL_ENST00000389560.2_Missense_Mutation_p.P77L|EP400NL_ENST00000392352.1_Intron|EP400NL_ENST00000443539.2_Intron					EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						GCCCCTGGCCCTGGGCTGGGC	0.672000													9	3					0	0	0.001368	0	0
IGLV5-48	28780	broad.mit.edu	37	22	22707705	22707705	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:22707705G>A	ENST00000390293.1	+	0	293																											AGCAATGCAGGGATTTTAGTC	0.512000													26	72					0	0	0.003954	0	0
OR2T2	401992	broad.mit.edu	37	1	248616254	248616254	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248616254G>A	ENST00000342927.3	+	1	178	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TCATCCACATGGACTCCCGCC	0.517000													17	167					0	0	0.001786	0	0
BBS12	166379	broad.mit.edu	37	4	123663113	123663113	+	Silent	SNP	C	C	T	rs150546366		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:123663113C>T	ENST00000542236.1	+	3	447	c.66C>T	c.(64-66)ttC>ttT	p.F22F	BBS12_ENST00000314218.3_Silent_p.F22F	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	22					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTCATCATTCGCGGAAACAG	0.358000									Bardet-Biedl syndrome				13	30					0	0	0.002450	0	0
IL1RN	3557	broad.mit.edu	37	2	113885270	113885270	+	Silent	SNP	G	G	A	rs2232353		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:113885270G>A	ENST00000259206.5	+	3	200	c.78G>A	c.(76-78)acG>acA	p.T26T	IL1RN_ENST00000354115.2_Silent_p.T5T|IL1RN_ENST00000409930.3_Silent_p.T23T|IL1RN_ENST00000409052.1_5'UTR|IL1RN_ENST00000361779.3_5'UTR	NM_173841.2	NP_776213.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	23					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATTCAGAGACGATCTGCCGAC	0.542000									Lichen Sclerosis et Atrophicus, Familial Clustering of				18	30					0	0	0.000958	0	0
ZNF208	7757	broad.mit.edu	37	19	22155094	22155094	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:22155094C>T	ENST00000397126.4	-	4	2890	c.2742G>A	c.(2740-2742)gaG>gaA	p.E914E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGTTTCTCTCCAGTAT	0.373000													14	34					0	0	0.002450	0	0
RPSAP52	204010	broad.mit.edu	37	12	66151867	66151867	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:66151867C>T	ENST00000489520.2	-	0	1076					NR_026825.2																						ACCTTATTTTCATGTTGCTTA	0.413000													7	4					0	0	0.001984	0	0
SV2B	9899	broad.mit.edu	37	15	91795167	91795167	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:91795167C>T	ENST00000394232.1	+	3	1040	c.570C>T	c.(568-570)tcC>tcT	p.S190S	SV2B_ENST00000330276.4_Silent_p.S190S|SV2B_ENST00000545111.2_Silent_p.S39S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	190					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTTCGCCTCCCTCTCTTCCT	0.587000													217	261					0	0	0.003610	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745056	140745056	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140745056C>T	ENST00000518069.1	+	1	1159	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTCTATTCCTAGGAATTT	0.398000													28	27					0	0	0.005443	0	0
LAGE3	8270	broad.mit.edu	37	X	153706298	153706298	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:153706298G>A	ENST00000357360.4	-	3	758	c.417C>T	c.(415-417)ccC>ccT	p.P139P	LAGE3_ENST00000407062.1_3'UTR	NM_006014.3	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	139							protein binding			lung(2)	2	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)					GGGAAACGGGGGGCCCAAAGC	0.597000													7	2					0	0	0.000673	0	0
DOCK3	1795	broad.mit.edu	37	3	51387809	51387809	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:51387809C>T	ENST00000266037.9	+	40	4116	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1365	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGAAGTTTCCTTTCTTTCT	0.428000													33	83					0	0	0.003755	0	0
OR2C1	4993	broad.mit.edu	37	16	3406061	3406061	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:3406061G>A	ENST00000304936.2	+	1	173	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GACCCTACTTGGGAACTCAAC	0.517000													70	53					0	0	0.003610	0	0
OR2M5	127059	broad.mit.edu	37	1	248309245	248309245	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248309245C>T	ENST00000366476.1	+	1	796	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACATCTGATCGCTCCCCTAT	0.522000													37	183					0	0	0.004289	0	0
HERC1	8925	broad.mit.edu	37	15	63950905	63950905	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:63950905G>A	ENST00000443617.2	-	48	9524	c.9437C>T	c.(9436-9438)tCc>tTc	p.S3146F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3146					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTTTCTACGGAGCCATGGCA	0.428000													14	47					0	0	0.003163	0	0
CHST6	4166	broad.mit.edu	37	16	75512971	75512971	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:75512971G>A	ENST00000332272.4	-	3	935	c.756C>T	c.(754-756)atC>atT	p.I252I	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.I252I	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	252					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGCCTCGGCGATGCGTACGT	0.716000													25	31					0	0	0.004656	0	0
MED25	81857	broad.mit.edu	37	19	50333403	50333403	+	Silent	SNP	C	C	A	rs111621037		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:50333403C>A	ENST00000312865.6	+	7	800	c.747C>A	c.(745-747)ccC>ccA	p.P249P	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	249	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCTGCCTCCCGCCGCACCCT	0.667000													8	78					0.00307968	0.00662433	0.003080	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47626919	47626919	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:47626919C>T	ENST00000371917.4	+	27	3735	c.3735C>T	c.(3733-3735)ttC>ttT	p.F1245F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1245					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCTGGCCTTCCAGACCACTT	0.517000													36	35					0	0	0.001706	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110527420	110527420	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110527420T>G	ENST00000378402.5	+	72	11679	c.11575T>G	c.(11575-11577)Ttt>Gtt	p.F3859V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3859					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAATTTTCTTTTCCACACT	0.313000										HNSCC(38;0.096)			12	21					0	0	0.000978	0	0
SNTG1	54212	broad.mit.edu	37	8	51362228	51362228	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:51362228G>A	ENST00000522124.1	+	6	881	c.219_splice	c.e6-1	p.G74_splice	SNTG1_ENST00000276467.5_Splice_Site_p.G74_splice|SNTG1_ENST00000518864.1_Splice_Site_p.G74_splice|SNTG1_ENST00000517473.1_Splice_Site_p.G74_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	74	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTCTTTTCAGGGAGGAGCAGA	0.343000													5	37					0	0	0.001168	0	0
SLC29A4	222962	broad.mit.edu	37	7	5331409	5331409	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:5331409C>T	ENST00000406453.3	+	5	526	c.464C>T	c.(463-465)cCa>cTa	p.P155L	SLC29A4_ENST00000297195.4_Silent_p.A167A|SLC29A4_ENST00000396872.2_Silent_p.A167A			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	165					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AGGCCTACGCCATCAACCTGG	0.642000													25	92					0	0	0.001271	0	0
ADAM29	11086	broad.mit.edu	37	4	175897899	175897899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:175897899G>A	ENST00000359240.3	+	5	1893	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	ADAM29_ENST00000445694.1_Missense_Mutation_p.G408E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G408E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G408E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	408	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGAAGAAGGAGAAGAGTGT	0.428000													81	65					0	0	0.003610	0	0
ZNF521	25925	broad.mit.edu	37	18	22807497	22807497	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:22807497G>A	ENST00000361524.3	-	4	533	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.R129C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	129					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TAGCTGAGGCGGCTAAACGAC	0.517000			T	PAX5	ALL								37	127					0	0	0.001706	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552601	43552601	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:43552601G>A	ENST00000430334.3	-	4	921	c.788C>T	c.(787-789)tCc>tTc	p.S263F	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S174F	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	263					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TAGGCTGCAGGACAGCTGGGA	0.557000													10	39					0	0	0.002450	0	0
TMEM160	54958	broad.mit.edu	37	19	47549939	47549939	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:47549939G>A	ENST00000253047.6	-	2	228	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	71						integral to membrane				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		ACCAGGAGAGGAAGGCTGGAG	0.597000													46	58					0	0	0.003610	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800709	70800709	+	Missense_Mutation	SNP	C	C	T	rs146773920	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:70800709C>T	ENST00000333538.5	+	2	1046	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	138						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)				TCCGGATTATCGTCCCACCAA	0.463000													19	72					0	0	0.002299	0	0
HBD	3045	broad.mit.edu	37	11	5255642	5255642	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:5255642C>T	ENST00000380299.3	-	1	236	c.22G>A	c.(22-24)Gag>Aag	p.E8K	HBD_ENST00000292901.3_Missense_Mutation_p.E8K	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	8					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTCTTCTCCTCAGGAGTC	0.502000													17	52					0	0	0.000958	0	0
CNTN4	152330	broad.mit.edu	37	3	3081908	3081908	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:3081908G>A	ENST00000397461.1	+	19	2735	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	CNTN4_ENST00000448906.2_Missense_Mutation_p.G456E|CNTN4_ENST00000427331.1_Missense_Mutation_p.G784E|CNTN4_ENST00000418658.1_Missense_Mutation_p.G784E|CNTN4_ENST00000358480.3_Missense_Mutation_p.G565E|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.G456E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	784	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACAACAAAGGAGAAGGCCCT	0.458000													21	51					0	0	0.001882	0	0
MUC21	394263	broad.mit.edu	37	6	30954052	30954052	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:30954052G>A	ENST00000376296.3	+	2	341	c.100G>A	c.(100-102)Gga>Aga	p.G34R	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	34	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGCCAACACTGGATCCAGTGT	0.478000													62	63					0	0	0.003610	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605857	84605857	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:84605857C>T	ENST00000344803.2	+	4	519	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTCTGTGTCCCCTTTGGCTTC	0.562000													24	3					0	0	0.004656	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820703	35820703	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:35820703G>A	ENST00000399989.1	+	2	669	c.390G>A	c.(388-390)atG>atA	p.M130I	MAGEB16_ENST00000399988.1_Missense_Mutation_p.M130I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.M130I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.M130I|MAGEB16_ENST00000399992.1_Missense_Mutation_p.M162I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	130	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTGTCAGATGAAAAAGCCAA	0.458000													9	7					0	0	0.000673	0	0
ZNF34	80778	broad.mit.edu	37	8	145999922	145999922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:145999922C>A	ENST00000429371.2	-	6	502	c.349G>T	c.(349-351)Gga>Tga	p.G117*	ZNF34_ENST00000343459.4_Nonsense_Mutation_p.G138*	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GGCTCAGATCCCTGGGGATCT	0.512000													6	143					0.00198382	0.00427134	0.001984	1	0
FUT6	2528	broad.mit.edu	37	19	5832366	5832366	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:5832366A>T	ENST00000318336.4	-	3	1407	c.213T>A	c.(211-213)ttT>ttA	p.F71L	FUT6_ENST00000524754.1_Missense_Mutation_p.F71L|FUT6_ENST00000286955.5_Missense_Mutation_p.F71L|FUT6_ENST00000527106.1_Missense_Mutation_p.F71L|FUT6_ENST00000592563.1_Missense_Mutation_p.F71L	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	71					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGGGTTTGTTAAAAGGCCACG	0.612000													18	59					0	0	0.001216	0	0
ITCH	83737	broad.mit.edu	37	20	33033181	33033181	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:33033181C>T	ENST00000374864.4	+	11	1268	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	ITCH_ENST00000535650.1_Missense_Mutation_p.S242F|ITCH_ENST00000262650.6_Missense_Mutation_p.S393F|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	393	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACACTGGAATCCGTCCGGAAC	0.473000													21	70					0	0	0.001216	0	0
NEU2	4759	broad.mit.edu	37	2	233899345	233899345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:233899345C>T	ENST00000233840.3	+	2	721	c.721C>T	c.(721-723)Cga>Tga	p.R241*		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	241							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AAGCCACCTCCGAGCCAGGGT	0.662000													15	9					0	0	0.006122	0	0
CPNE4	131034	broad.mit.edu	37	3	131261456	131261456	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:131261456C>T	ENST00000512055.1	-	19	3610	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CPNE4_ENST00000429747.1_Missense_Mutation_p.G495E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495E|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513E|CPNE4_ENST00000512332.1_Missense_Mutation_p.G513E			Q96A23	CPNE4_HUMAN	copine IV	495	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACAGGCTCTCCCTTGGGTGA	0.517000													48	31					0	0	0.003610	0	0
AC010731.4	0	broad.mit.edu	37	2	207509016	207509016	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:207509016C>T	ENST00000543490.1	+	0	231																											TTCACCTGCTCCCTGCTCATT	0.532000													11	13					0	0	0.000673	0	0
NPY5R	4889	broad.mit.edu	37	4	164272168	164272168	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:164272168G>A	ENST00000515560.1	+	4	2265	c.743G>A	c.(742-744)aGa>aAa	p.R248K	NPY5R_ENST00000506953.1_Missense_Mutation_p.R248K|NPY5R_ENST00000338566.3_Missense_Mutation_p.R248K			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	248					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)				AAAGAAAACAGACTTGAAGAA	0.383000													55	33					0	0	0.003610	0	0
PTPN9	5780	broad.mit.edu	37	15	75763107	75763107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:75763107G>A	ENST00000306726.2	-	11	1785	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	425	Tyrosine-protein phosphatase.					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						AAGCCAAATCGGATCCGAGAG	0.458000													62	72					0	0	0.003610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111696	64111696	+	Silent	SNP	C	C	T	rs79231173		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64111696C>T	ENST00000356786.5	+	14	1727	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	561					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAGAGTCCCCTTCAGGCAG	0.632000													18	59					0	0	0.006122	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564654	46564654	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:46564654G>A	ENST00000458649.2	-	7	1331	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F	AMBRA1_ENST00000298834.3_Missense_Mutation_p.L305F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.L305F|AMBRA1_ENST00000314845.3_Intron|AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000528950.1_Missense_Mutation_p.L305F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.L305F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	305					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)		AGGATCCCAAGGTGCTGGCAG	0.637000													4	7					0	0	0.000248	0	0
MEGF9	1955	broad.mit.edu	37	9	123453747	123453747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:123453747G>A	ENST00000426959.1	-	2	582	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	MEGF9_ENST00000373930.3_Intron			Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	200	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ACAGGCCACTGATGCCCTGAA	0.353000													5	4					0	0	0.001168	0	0
BPTF	2186	broad.mit.edu	37	17	65871076	65871076	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:65871076C>T	ENST00000321892.4	+	4	1865	c.1804C>T	c.(1804-1806)Ctt>Ttt	p.L602F	BPTF_ENST00000306378.6_Missense_Mutation_p.L602F|BPTF_ENST00000424123.3_Missense_Mutation_p.L463F|BPTF_ENST00000335221.5_Missense_Mutation_p.L602F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	602					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)			AGACCAGTCCCTTGAAAAAGA	0.343000													74	43					0	0	0.003610	0	0
KRT1	3848	broad.mit.edu	37	12	53070866	53070866	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:53070866C>T	ENST00000252244.3	-	6	1289	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	411	Coil 2.|Rod.				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						TTGTCGATTTCAGATCTAAGT	0.458000													27	21					0	0	0.004656	0	0
ATG13	9776	broad.mit.edu	37	11	46690351	46690351	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:46690351C>T	ENST00000434074.1	+	15	1927	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L	ATG13_ENST00000524625.1_Missense_Mutation_p.P376L|ATG13_ENST00000528494.1_Missense_Mutation_p.P446L|ATG13_ENST00000359513.4_Missense_Mutation_p.P413L|ATG13_ENST00000451945.1_Missense_Mutation_p.P376L|ATG13_ENST00000312040.4_Missense_Mutation_p.P413L|ATG13_ENST00000526508.1_Missense_Mutation_p.P413L|ATG13_ENST00000529655.1_Missense_Mutation_p.P376L|ATG13_ENST00000530500.1_Missense_Mutation_p.P297L	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	413					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CAGGTGAATCCTCCAGATTCC	0.488000													16	38					0	0	0.001216	0	0
SPHK2	56848	broad.mit.edu	37	19	49132208	49132208	+	Silent	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:49132208C>G	ENST00000443164.1	+	5	2034	c.1329C>G	c.(1327-1329)gcC>gcG	p.A443A	SPHK2_ENST00000598088.1_Silent_p.A381A|SPHK2_ENST00000599029.1_Silent_p.A345A|SPHK2_ENST00000340932.3_Silent_p.A343A|SPHK2_ENST00000245222.4_Silent_p.A381A|SPHK2_ENST00000600537.1_Silent_p.A322A|SPHK2_ENST00000599748.1_Silent_p.A345A			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACCTCCCCGCCACTGTGGAAC	0.692000													31	26					0	0	0.002836	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671908	39671908	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:39671908C>T	ENST00000398930.1	+	4	1079	c.725C>T	c.(724-726)tCc>tTc	p.S242F	KCNJ15_ENST00000398932.1_Missense_Mutation_p.S242F|KCNJ15_ENST00000328656.3_Missense_Mutation_p.S242F|KCNJ15_ENST00000398938.2_Missense_Mutation_p.S242F|KCNJ15_ENST00000398934.1_Missense_Mutation_p.S242F			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	242					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GTGGACTCCTCCTCTGAGAGC	0.567000													17	43					0	0	0.001523	0	0
PPARG	5468	broad.mit.edu	37	3	12458537	12458537	+	Missense_Mutation	SNP	G	G	A	rs140204299		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:12458537G>A	ENST00000397026.2	+	8	1471	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.R357Q|PPARG_ENST00000309576.6_Missense_Mutation_p.R357Q|PPARG_ENST00000287820.6_Missense_Mutation_p.R385Q|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.R357Q|PPARG_ENST00000397010.2_Missense_Mutation_p.R357Q			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	385	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGAGCCTGCGAAAGCCTTTT	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						307	248					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152280873	152280873	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:152280873G>A	ENST00000368799.1	-	3	6524	c.6489C>T	c.(6487-6489)caC>caT	p.H2163H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2163	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)			GAGACCCTGAGTGTCCAGACC	0.567000									Ichthyosis				98	670					0	0	0.003610	0	0
MEST	4232	broad.mit.edu	37	7	130139723	130139723	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:130139723T>A	ENST00000223215.4	+	7	764	c.543T>A	c.(541-543)ttT>ttA	p.F181L	MEST_ENST00000378576.4_Missense_Mutation_p.F172L|MEST_ENST00000437945.1_Missense_Mutation_p.F181L|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000393187.1_Missense_Mutation_p.F172L|MEST_ENST00000416162.2_Missense_Mutation_p.F172L|MEST_ENST00000341441.4_Missense_Mutation_p.F172L	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	181					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CAGGTATCTTTCCTGAGACTC	0.403000													127	511					0	0	0.003610	0	0
ROCK2	9475	broad.mit.edu	37	2	11367399	11367399	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:11367399G>A	ENST00000315872.6	-	6	1297	c.849C>T	c.(847-849)ttC>ttT	p.F283F	ROCK2_ENST00000401753.1_Silent_p.F40F	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	283	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTCATAAAGGAAAACACCTA	0.353000													31	125					0	0	0.001786	0	0
ZNF398	57541	broad.mit.edu	37	7	148876807	148876807	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:148876807C>A	ENST00000420008.2	+	6	2118	c.1330C>A	c.(1330-1332)Ctt>Att	p.L444I	ZNF398_ENST00000483892.1_Missense_Mutation_p.L444I|ZNF398_ENST00000491174.1_Missense_Mutation_p.L444I|ZNF398_ENST00000426851.2_Missense_Mutation_p.L444I|ZNF398_ENST00000540950.1_Missense_Mutation_p.L620I|ZNF398_ENST00000475153.1_Missense_Mutation_p.L615I|ZNF398_ENST00000335901.4_Missense_Mutation_p.L444I	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	615					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CATAACTGGGCTTGAAACTTC	0.547000													17	40					1.99824e-07	4.32787e-07	0.004990	1	0
DENND2A	27147	broad.mit.edu	37	7	140301799	140301799	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:140301799C>T	ENST00000275884.6	-	2	816	c.399G>A	c.(397-399)cgG>cgA	p.R133R	DENND2A_ENST00000492720.1_Silent_p.R133R|DENND2A_ENST00000496613.1_Silent_p.R133R|DENND2A_ENST00000537639.1_Silent_p.R133R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	133										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GATCCACTTCCCGTTCTGGCT	0.592000													60	208					0	0	0.003610	0	0
BEND6	221336	broad.mit.edu	37	6	56882132	56882132	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:56882132C>T	ENST00000370746.3	+	5	916	c.647C>T	c.(646-648)tCc>tTc	p.S216F	BEND6_ENST00000545789.1_Missense_Mutation_p.S118F|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	216	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GGGGCAAAATCCTCTACTTCA	0.373000													21	30					0	0	0.001523	0	0
AGBL5	60509	broad.mit.edu	37	2	27278044	27278044	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:27278044C>T	ENST00000360131.4	+	6	990	c.831C>T	c.(829-831)gcC>gcT	p.A277A	AGBL5_ENST00000323064.8_Silent_p.A277A	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	277					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCCGGGCCCAAACCCTCC	0.542000													63	38					0	0	0.003610	0	0
FAM19A5	25817	broad.mit.edu	37	22	49103654	49103654	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:49103654A>C	ENST00000358295.5	+	3	542	c.367A>C	c.(367-369)Acg>Ccg	p.T123P	FAM19A5_ENST00000406880.1_Missense_Mutation_p.T51P|FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000402357.1_Missense_Mutation_p.T130P	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	130						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AAAGACCACCACGGTATGTGG	0.657000													36	97					0	0	0.001706	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049813	69049813	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:69049813G>A	ENST00000295381.3	+	10	1958	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	ARHGAP25_ENST00000467265.1_Silent_p.G474G|ARHGAP25_ENST00000479844.1_Silent_p.G207G|ARHGAP25_ENST00000409220.1_Silent_p.G507G|ARHGAP25_ENST00000409030.3_Silent_p.G506G|ARHGAP25_ENST00000409202.3_Silent_p.G514G	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	513					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGTCCCCTGGGGAGGAAGCCA	0.547000													26	85					0	0	0.004656	0	0
VPS54	51542	broad.mit.edu	37	2	64174584	64174584	+	Missense_Mutation	SNP	C	C	T	rs150460424		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:64174584C>T	ENST00000272322.4	-	9	1332	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	VPS54_ENST00000354504.3_Intron|VPS54_ENST00000409558.3_Missense_Mutation_p.R381K	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	393					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATTAAGCTTTCTTTGTTTTAA	0.234000													11	19					0	0	0.002450	0	0
CHAMP1	283489	broad.mit.edu	37	13	115091392	115091392	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:115091392T>C	ENST00000361283.1	+	3	2384	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	692	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AAAGAAGCTTTTATCTCTGAA	0.363000													4	32					0	0	0.000602	0	0
SHPK	23729	broad.mit.edu	37	17	3527496	3527496	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:3527496G>A	ENST00000225519.3	-	3	442	c.340C>T	c.(340-342)Ccg>Tcg	p.P114S		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	114					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		TCGAACACCGGGGTAATCCCT	0.547000													4	30					0	0	0.000248	0	0
SRBD1	55133	broad.mit.edu	37	2	45829063	45829063	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:45829063G>A	ENST00000263736.4	-	3	302	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	80	Poly-Val.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TAACAACAACGACTTCTGAGC	0.483000													108	70					0	0	0.003610	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357063	37357063	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:37357063C>T	ENST00000217420.1	+	2	1622	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	453					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCCGCACTTCGCGCTGCTCA	0.672000													33	74					0	0	0.001287	0	0
LHX5	64211	broad.mit.edu	37	12	113906206	113906206	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:113906206G>A	ENST00000261731.3	-	3	974	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CGTACAGGATGACACTGCGGG	0.677000													19	9					0	0	0.001523	0	0
UNC5C	8633	broad.mit.edu	37	4	96166223	96166223	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:96166223C>T	ENST00000453304.1	-	6	1196	c.848G>A	c.(847-849)cGt>cAt	p.R283H	UNC5C_ENST00000506749.1_Missense_Mutation_p.R283H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	283	TSP type-1 1.				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)		AGTCCTTGTACGTTTCTGATA	0.527000													43	27					0	0	0.002222	0	0
ZNF572	137209	broad.mit.edu	37	8	125989574	125989574	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:125989574C>T	ENST00000319286.5	+	3	1218	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAGAGAAATCCTATGAAAGT	0.378000										HNSCC(60;0.17)			8	54					0	0	0.000443	0	0
UNC5B	219699	broad.mit.edu	37	10	73048423	73048423	+	Missense_Mutation	SNP	G	G	A	rs115883185	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:73048423G>A	ENST00000335350.6	+	7	1416	c.1000G>A	c.(1000-1002)Gga>Aga	p.G334R	UNC5B_ENST00000373192.4_Missense_Mutation_p.G334R	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	334	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCCAGAACGGAGGCCGTGA	0.652000													23	4					0	0	0.002299	0	0
PYGM	5837	broad.mit.edu	37	11	64522189	64522189	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64522189C>T	ENST00000164139.3	-	8	1373	c.975G>A	c.(973-975)acG>acA	p.T325T	PYGM_ENST00000377432.3_Silent_p.T237T	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	325					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CATCGAAGTTCGTGCGCACGG	0.607000													12	13					0	0	0.003163	0	0
NR5A2	2494	broad.mit.edu	37	1	200017899	200017899	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:200017899T>C	ENST00000367362.3	+	5	1309	c.1063T>C	c.(1063-1065)Tcc>Ccc	p.S355P	NR5A2_ENST00000544748.1_Missense_Mutation_p.S283P|NR5A2_ENST00000236914.3_Missense_Mutation_p.S309P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	355	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACTCTCTTCTCCATTGTCGA	0.458000													32	165					0	0	0.002445	0	0
OR4N4	283694	broad.mit.edu	37	15	22383270	22383270	+	Silent	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:22383270A>T	ENST00000328795.4	+	1	889	c.798A>T	c.(796-798)ccA>ccT	p.P266P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	266					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)		GGGCCTTACCAGCTGACAAGA	0.428000													42	188					0	0	0.002522	0	0
F8	2157	broad.mit.edu	37	X	154157263	154157263	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:154157263G>A	ENST00000360256.4	-	14	5002	c.4802C>T	c.(4801-4803)tCc>tTc	p.S1601F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1601	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTCTCTTGGGATTTCCACTC	0.413000													64	7					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179611958	179611958	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179611958C>T	ENST00000360870.5	-	46	15391	c.15169G>A	c.(15169-15171)Gag>Aag	p.E5057K	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1164	Ig-like 31.						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)			TCTAGTGTCTCCCCTGGGGGT	0.498000													30	17					0	0	0.002445	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110445392	110445392	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110445392C>T	ENST00000378402.5	+	28	3391	c.3287C>T	c.(3286-3288)tCa>tTa	p.S1096L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1096	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCCTAGTTCAGCTGTAACA	0.338000										HNSCC(38;0.096)			69	261					0	0	0.003610	0	0
KCNT2	343450	broad.mit.edu	37	1	196395118	196395118	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:196395118C>T	ENST00000367433.5	-	11	1086	c.984_splice	c.e11-1	p.D329_splice	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.D329_splice|KCNT2_ENST00000367431.4_Splice_Site_p.D329_splice			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	329						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D329Y(2)		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						ACATAATAATCCTATTCAAAA	0.318000													31	13					0	0	0.002096	0	0
PEX5L	51555	broad.mit.edu	37	3	179689405	179689405	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:179689405C>T	ENST00000467460.1	-	2	400	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.E24K|PEX5L_ENST00000263962.8_Intron|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000465751.1_Intron	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	24					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			acaattatttcgaggtcttca	0.313000													8	26					0	0	0.000443	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6981226	6981226	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6981226C>T	ENST00000600751.1	-	0	453					NR_024075.1																						CTCAGATTTTCCTTCCAAAAA	0.408000													6	29					0	0	0.001168	0	0
C1orf105	92346	broad.mit.edu	37	1	172437642	172437642	+	Missense_Mutation	SNP	G	G	A	rs146020107	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:172437642G>A	ENST00000367727.4	+	7	658	c.460G>A	c.(460-462)Gga>Aga	p.G154R	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.G144R	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	154								p.G154*(1)|p.G154R(1)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TGTCTTCCACGGATTACTGAC	0.478000													217	91					0	0	0.003610	0	0
C1orf106	55765	broad.mit.edu	37	1	200869277	200869277	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:200869277G>A	ENST00000367342.4	+	4	681	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E76K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	161										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CAAACCAGGGGAAAAGGCCCC	0.617000													15	32					0	0	0.003163	0	0
CELSR1	9620	broad.mit.edu	37	22	46807511	46807511	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:46807511G>T	ENST00000262738.3	-	6	4756	c.4757C>A	c.(4756-4758)aCc>aAc	p.T1586N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1586	Laminin G-like 1.				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)		CTTGGAGCCGGTCTGAGTGCC	0.627000													47	5					1.89013e-27	4.11811e-27	0.003610	1	0
WNT9A	7483	broad.mit.edu	37	1	228111920	228111920	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:228111920G>A	ENST00000272164.5	-	3	544	c.534C>T	c.(532-534)ttC>ttT	p.F178F	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	178					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ATTCCTTGACGAACTTGCTGC	0.612000													39	179					0	0	0.002852	0	0
UNC13C	440279	broad.mit.edu	37	15	54306263	54306263	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:54306263A>G	ENST00000545554.1	+	1	1163	c.1163A>G	c.(1162-1164)gAt>gGt	p.D388G	UNC13C_ENST00000537900.1_Missense_Mutation_p.D388G|UNC13C_ENST00000260323.11_Missense_Mutation_p.D388G			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	388					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)		CAACAAAGGGATTCTGTCTTA	0.383000													19	57					0	0	0.000958	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290827	20290827	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:20290827G>A	ENST00000377252.3	+	2	1077	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	PLXDC2_ENST00000377242.3_Missense_Mutation_p.R79Q	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	79						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GACACGAACCGAGCAAGCGTC	0.527000													27	6					0	0	0.001271	0	0
CNOT3	4849	broad.mit.edu	37	19	54647829	54647829	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:54647829C>T	ENST00000406403.1	+	5	1949	c.346C>T	c.(346-348)Cct>Tct	p.P116S	CNOT3_ENST00000221232.5_Missense_Mutation_p.P116S|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	116					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTAGATCCTGCCCAGAA	0.552000													15	42					0	0	0.002450	0	0
ZNF701	55762	broad.mit.edu	37	19	53086285	53086285	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:53086285C>T	ENST00000540331.1	+	5	1396	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.P325S|ZNF701_ENST00000301093.2_Missense_Mutation_p.P391S	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGGAGAGAAACCTTACAAATG	0.373000													24	56					0	0	0.004656	0	0
MED12L	116931	broad.mit.edu	37	3	151134120	151134120	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:151134120C>T	ENST00000474524.1	+	41	6251	c.6213C>T	c.(6211-6213)ccC>ccT	p.P2071P	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2071	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			cccagcagccccagccccagc	0.547000													13	26					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179473102	179473102	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179473102C>T	ENST00000589042.1	-	275	52732	c.52508G>A	c.(52507-52509)gGt>gAt	p.G17503D	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15862D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14935D|TTN_ENST00000460472.2_Missense_Mutation_p.G8438D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8563D|TTN_ENST00000342175.6_Missense_Mutation_p.G8630D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15862	Ig-like 103.						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)			AAGCCAGTAACCCAAAATGGG	0.418000													18	10					0	0	0.006122	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:52034594C>T	ENST00000346477.3	-	2	315	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E47K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E83K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000													43	44					0	0	0.001706	0	0
BSDC1	55108	broad.mit.edu	37	1	32834069	32834069	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:32834069G>A	ENST00000341071.7	-	10	1301	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	BSDC1_ENST00000413080.1_Silent_p.S352S|BSDC1_ENST00000463967.1_5'UTR|BSDC1_ENST00000455895.2_Silent_p.S413S|BSDC1_ENST00000446293.2_Silent_p.S430S|BSDC1_ENST00000419121.2_Silent_p.S357S|BSDC1_ENST00000526031.1_Silent_p.S318S			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	413				E -> D (in Ref. 3; CAG33533).			protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATCCACTTTGGAAAGTGCCA	0.587000													14	54					0	0	0.004990	0	0
CPA2	1358	broad.mit.edu	37	7	129910623	129910623	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:129910623G>A	ENST00000222481.4	+	4	434	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	127					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCATACCCTGGAAGAGGTAGG	0.423000													28	36					0	0	0.001786	0	0
SPO11	23626	broad.mit.edu	37	20	55918436	55918436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:55918436C>T	ENST00000371263.3	+	13	1220	c.1111C>T	c.(1111-1113)Caa>Taa	p.Q371*	SPO11_ENST00000371260.4_Nonsense_Mutation_p.Q329*|SPO11_ENST00000345868.4_Nonsense_Mutation_p.Q333*	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	371					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGCAGAAATTCAAGCTTTGAC	0.313000								Editing and processing nucleases					32	86					0	0	0.002445	0	0
ECE2	9718	broad.mit.edu	37	3	184009924	184009924	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:184009924C>T	ENST00000402825.3	+	19	2550	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	ECE2_ENST00000359140.4_Silent_p.F703F|ECE2_ENST00000357474.5_Silent_p.F778F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.F732F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	850	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCCGCTTCCGCGTGCTGG	0.682000													13	39					0	0	0.002450	0	0
WDR47	22911	broad.mit.edu	37	1	109553733	109553733	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:109553733G>A	ENST00000357672.3	-	4	1226	c.851C>T	c.(850-852)tCt>tTt	p.S284F	WDR47_ENST00000361054.3_Missense_Mutation_p.S284F|WDR47_ENST00000369965.4_Missense_Mutation_p.S312F|WDR47_ENST00000400794.3_Missense_Mutation_p.S319F|WDR47_ENST00000369962.3_Missense_Mutation_p.S312F			O94967	WDR47_HUMAN	WD repeat domain 47	312										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGGATTCAGAGAGCGGGTCAT	0.443000													206	506					0	0	0.003610	0	0
MN1	4330	broad.mit.edu	37	22	28194969	28194969	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:28194969G>A	ENST00000302326.4	-	1	2517	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	521							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgcAGGGACTGGTGGT	0.672000			T	ETV6	"""AML, meningioma"""								4	13					0	0	0.000248	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681160	234681160	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234681160G>A	ENST00000305139.6	+	5	1693	c.1554G>A	c.(1552-1554)ggG>ggA	p.G518G	UGT1A3_ENST00000482026.1_Silent_p.G520G|UGT1A8_ENST00000373450.4_Silent_p.G516G|UGT1A1_ENST00000305208.5_Silent_p.G519G|UGT1A4_ENST00000373409.3_Silent_p.G520G|UGT1A9_ENST00000354728.4_Silent_p.G516G|UGT1A10_ENST00000344644.5_Silent_p.G516G|UGT1A5_ENST00000373414.3_Silent_p.G520G|UGT1A6_ENST00000373424.1_Silent_p.G251G|UGT1A7_ENST00000373426.3_Silent_p.G516G	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		AATGCTTGGGGAAAAAAGGGC	0.453000													12	33					0	0	0.000978	0	0
MAP4K3	8491	broad.mit.edu	37	2	39479010	39479010	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:39479010G>A	ENST00000263881.3	-	33	2882	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	MAP4K3_ENST00000437545.1_Missense_Mutation_p.S769L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.S832L|MAP4K3_ENST00000536018.1_Missense_Mutation_p.S406L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	853	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTGCTATCTGAAATTTCTTG	0.303000													25	17					0	0	0.002445	0	0
RBMS2	5939	broad.mit.edu	37	12	56975215	56975215	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:56975215G>A	ENST00000262031.5	+	7	750	c.655G>A	c.(655-657)Gat>Aat	p.D219N	RBMS2_ENST00000552247.2_Missense_Mutation_p.D219N|RBMS2_ENST00000550726.1_Missense_Mutation_p.D94N|RBMS2_ENST00000542360.1_Missense_Mutation_p.D74N	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	219	RRM 2.				RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAAATTTGCTGATGGCGGGCC	0.537000													19	38					0	0	0.001216	0	0
OR8I2	120586	broad.mit.edu	37	11	55861181	55861181	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55861181C>T	ENST00000302124.2	+	1	429	c.398C>T	c.(397-399)tCa>tTa	p.S133L	OR8I2_ENST00000560768.1_Missense_Mutation_p.S133L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTACTGTATTCAGTAGTCATG	0.433000													30	79					0	0	0.002445	0	0
ALDH2	217	broad.mit.edu	37	12	112221090	112221090	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:112221090G>A	ENST00000546840.2	+	4	338	c.338G>A	c.(337-339)gGa>gAa	p.G113E	ALDH2_ENST00000416293.3_Intron|ALDH2_ENST00000261733.2_Silent_p.R116R																							AGCGGGACCGGACCTACCTGG	0.652000													18	58					0	0	0.000958	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906417	96906417	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:96906417C>T	ENST00000446816.1	+	0	800																											TCCTTCCTTCCCTGCAGTTGG	0.552000													14	40					0	0	0.003163	0	0
ESRP1	54845	broad.mit.edu	37	8	95686711	95686711	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:95686711C>T	ENST00000433389.2	+	12	1818	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	ESRP1_ENST00000454170.2_Missense_Mutation_p.S543F|ESRP1_ENST00000423620.2_Missense_Mutation_p.S543F|ESRP1_ENST00000358397.5_Missense_Mutation_p.S543F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	543					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AATGGCTTATCCCCACCGCCA	0.413000													201	231					0	0	0.003610	0	0
GPR171	29909	broad.mit.edu	37	3	150917160	150917160	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:150917160G>A	ENST00000309180.5	-	3	244	c.14C>T	c.(13-15)tCg>tTg	p.S5L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	5						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.S5L(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGAAGAACGAACTGTTTGT	0.348000													21	26					0	0	0.002780	0	0
PRMT3	10196	broad.mit.edu	37	11	20486071	20486071	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:20486071C>T	ENST00000331079.6	+	13	1543	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	PRMT3_ENST00000437750.2_Silent_p.I380I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	442							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CCCTGAAAATCACAAGGACAT	0.378000													42	26					0	0	0.003214	0	0
EPHA10	284656	broad.mit.edu	37	1	38197104	38197104	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:38197104C>T	ENST00000373048.4	-	7	1641	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.E43K|EPHA10_ENST00000427468.2_Missense_Mutation_p.E548K|EPHA10_ENST00000330210.7_Missense_Mutation_p.E43K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	548	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTGTACTTCAATGCTGGGG	0.597000													20	45					0	0	0.001882	0	0
SPEN	23013	broad.mit.edu	37	1	16263665	16263665	+	Missense_Mutation	SNP	C	C	T	rs35291379		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:16263665C>T	ENST00000375759.3	+	12	10238	c.10034C>T	c.(10033-10035)cCt>cTt	p.P3345L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3345	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGGGCCCTCCTCCTGAAGGT	0.642000													21	63					0	0	0.001882	0	0
SLC25A20	788	broad.mit.edu	37	3	48897041	48897041	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:48897041C>T	ENST00000319017.4	-	6	753	c.555G>A	c.(553-555)atG>atA	p.M185I	SLC25A20_ENST00000544097.1_Missense_Mutation_p.M135I|SLC25A20_ENST00000430379.1_Missense_Mutation_p.M112I	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	185					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TCATGAAATACATTCCACTAG	0.438000													38	78					0	0	0.001485	0	0
IRAK1	3654	broad.mit.edu	37	X	153282490	153282490	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:153282490G>A	ENST00000369980.3	-	8	1105	c.938C>T	c.(937-939)cCt>cTt	p.P313L	IRAK1_ENST00000429936.2_Missense_Mutation_p.P339L|IRAK1_ENST00000369974.2_Missense_Mutation_p.P313L|IRAK1_ENST00000393687.2_Missense_Mutation_p.P313L|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.P339L	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	313	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated 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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTCGCTGAGGCCAGGAGAG	0.597000													49	6					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141799512	141799512	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:141799512G>A	ENST00000475668.2	+	67	7903	c.7849G>A	c.(7849-7851)Gag>Aag	p.E2617K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1721K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1721					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)	GCCCTGGCAAGAGCCTGCACT	0.473000													21	24					0	0	0.001882	0	0
PLB1	151056	broad.mit.edu	37	2	28816584	28816584	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:28816584C>T	ENST00000422425.2	+	32	2295	c.2251C>T	c.(2251-2253)Ccc>Tcc	p.P751S	PLB1_ENST00000329020.6_Missense_Mutation_p.P450S|PLB1_ENST00000327757.5_Missense_Mutation_p.P762S	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	762	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGACGACCTCCCCGATGTCAC	0.488000													11	15					0	0	0.000978	0	0
ABCC5	10057	broad.mit.edu	37	3	183639171	183639171	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:183639171G>A	ENST00000334444.6	-	30	4471	c.4231C>T	c.(4231-4233)Cca>Tca	p.P1411S	ABCC5_ENST00000265586.6_Missense_Mutation_p.P1368S	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1411	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGACCGATGGGGTGTCAAAC	0.552000													17	42					0	0	0.006122	0	0
PNPLA6	10908	broad.mit.edu	37	19	7616319	7616319	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:7616319C>T	ENST00000221249.6	+	21	2570	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	PNPLA6_ENST00000600737.1_Silent_p.F752F|PNPLA6_ENST00000414982.3_Silent_p.F761F|PNPLA6_ENST00000545201.2_Silent_p.F687F|PNPLA6_ENST00000450331.3_Silent_p.F713F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	752					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGGACCCTTCCCAGGTGAGA	0.602000													17	46					0	0	0.006122	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256039	140256039	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140256039C>T	ENST00000398631.2	+	1	982	c.982C>T	c.(982-984)Cct>Tct	p.P328S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGGGATTCCTTCCATGGC	0.423000													52	5					0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126372959	126372959	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:126372959C>T	ENST00000394329.3	+	9	10801	c.10788C>T	c.(10786-10788)tcC>tcT	p.S3596S	FAT4_ENST00000335110.5_Silent_p.S1894S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3596	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGTCTTCCACAGGAACTG	0.428000													31	83					0	0	0.002445	0	0
ZNF85	7639	broad.mit.edu	37	19	21133053	21133053	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:21133053C>T	ENST00000601023.1	+	2	2202	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	ZNF85_ENST00000345030.6_Missense_Mutation_p.S545F|ZNF85_ENST00000328178.8_Missense_Mutation_p.S578F			Q03923	ZNF85_HUMAN	zinc finger protein 85	578						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TTTAAATGGTCCTCAGTCCTT	0.303000													7	20					0	0	0.001984	0	0
DPPA2	151871	broad.mit.edu	37	3	109023372	109023372	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:109023372G>A	ENST00000478945.1	-	7	1050	c.804C>T	c.(802-804)ttC>ttT	p.F268F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	268						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGGATGGGAAAATGCAGG	0.478000													17	52					0	0	0.004007	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132057	59132057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:59132057G>A	ENST00000313940.2	+	1	173	c.126G>A	c.(124-126)tgG>tgA	p.W42*		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCTGGCCTGGAACCTCTCCC	0.413000													58	44					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13885301	13885301	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13885301G>A	ENST00000265104.4	-	19	2884	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	927	Stem (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)					ATTAATAGATGATGTCAAGGT	0.413000									Kartagener syndrome				16	42					0	0	0.004990	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525646	150525646	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:150525646G>A	ENST00000271643.4	+	5	587	c.351G>A	c.(349-351)caG>caA	p.Q117Q	ADAMTSL4_ENST00000369038.2_Silent_p.Q117Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Silent_p.Q117Q|ADAMTSL4_ENST00000369039.5_Silent_p.Q117Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	117					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACAGGACACAGTCTCGGGGAA	0.667000													21	87					0	0	0.002780	0	0
TP53BP2	7159	broad.mit.edu	37	1	223989873	223989873	+	Silent	SNP	C	C	T	rs142207720		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:223989873C>T	ENST00000391878.2	-	10	1551	c.783G>A	c.(781-783)ccG>ccA	p.P261P	TP53BP2_ENST00000343537.7_Silent_p.P390P|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	384					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTATTTTCATCGGCCCCTCTG	0.522000													34	112					0	0	0.001706	0	0
HTR5A	3361	broad.mit.edu	37	7	154863156	154863156	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:154863156G>A	ENST00000287907.2	+	1	1123	c.547G>A	c.(547-549)Gag>Aag	p.E183K	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	183						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGGCTGGGGAGAGACGTACTC	0.637000													21	34					0	0	0.001216	0	0
LRG1	116844	broad.mit.edu	37	19	4538269	4538269	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:4538269G>A	ENST00000306390.6	-	2	1187	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	243						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		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)		TTGCCGTTCAGGAAGAGGTAG	0.592000													148	252					0	0	0.003610	0	0
HFM1	164045	broad.mit.edu	37	1	91788545	91788545	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:91788545C>T	ENST00000370425.3	-	23	2642	c.2544G>A	c.(2542-2544)atG>atA	p.M848I	HFM1_ENST00000370424.3_Missense_Mutation_p.M527I|HFM1_ENST00000294696.5_Missense_Mutation_p.M80I|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	848	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCTTCCTTCCATTGGAAATC	0.199000													3	4					0	0	0.004672	0	0
DGKD	8527	broad.mit.edu	37	2	234368863	234368863	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234368863C>T	ENST00000264057.2	+	24	2865	c.2853C>T	c.(2851-2853)tcC>tcT	p.S951S	DGKD_ENST00000409813.3_Silent_p.S907S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	951					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCCTGAAGTCCTGGGAAGACA	0.582000													13	56					0	0	0.001855	0	0
GPR83	10888	broad.mit.edu	37	11	94113369	94113369	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:94113369G>A	ENST00000243673.2	-	4	1389	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	GPR83_ENST00000539203.2_Silent_p.L364L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	406						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCCCAGACTGGAGTTGGGAGG	0.582000													16	45					0	0	0.003163	0	0
MGAM	8972	broad.mit.edu	37	7	141752622	141752622	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:141752622C>T	ENST00000475668.2	+	26	3051	c.2997C>T	c.(2995-2997)gtC>gtT	p.V999V	MGAM_ENST00000549489.2_Silent_p.V999V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	999	P-type 2.				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)	GCTATTTTGTCAACGACCTAT	0.438000													72	95					0	0	0.003610	0	0
OTOP1	133060	broad.mit.edu	37	4	4190620	4190620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:4190620C>T	ENST00000296358.4	-	6	1773	c.1749G>A	c.(1747-1749)tgG>tgA	p.W583*		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	583					biomineral tissue development	extracellular space|integral to membrane				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)		CCACAATTATCCAGGGTTCAA	0.463000													7	121					0	0	0.000673	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106083426	106083426	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:106083426C>T	ENST00000357242.5	+	9	1676	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.S501L|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S495L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	501	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGCTTTTTTCAGGTATTACG	0.348000													20	7					0	0	0.002299	0	0
LPAR4	2846	broad.mit.edu	37	X	78010794	78010794	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:78010794C>T	ENST00000435339.2	+	2	833	c.428C>T	c.(427-429)cCt>cTt	p.P143L	LPAR4_ENST00000373301.2_Missense_Mutation_p.P143L	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	143						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.P143H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTCTATCCTTTTCGATCT	0.463000													42	4					0	0	0.002522	0	0
FMNL2	114793	broad.mit.edu	37	2	153476148	153476148	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:153476148C>T	ENST00000288670.9	+	15	2120	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	585	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGTACCAGCTCCTCCCTTAGC	0.632000													8	16					0	0	0.003080	0	0
TENC1	23371	broad.mit.edu	37	12	53455629	53455629	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:53455629G>T	ENST00000314250.6	+	22	3769	c.3479G>T	c.(3478-3480)gGg>gTg	p.G1160V	TENC1_ENST00000546602.1_Missense_Mutation_p.G1063V|TENC1_ENST00000549700.1_Missense_Mutation_p.G1095V|TENC1_ENST00000379902.3_Missense_Mutation_p.G1036V|TENC1_ENST00000451358.1_Missense_Mutation_p.G1150V|TENC1_ENST00000552570.1_Missense_Mutation_p.G1160V|TENC1_ENST00000314276.3_Missense_Mutation_p.G1170V	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1160	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AAGGACCCTGGGGCCTTCCTG	0.627000													7	139					0.00198382	0.00427134	0.001984	1	0
CDCP1	64866	broad.mit.edu	37	3	45136972	45136972	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:45136972G>A	ENST00000296129.1	-	5	1247	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	371						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AACAGCCAGGGACAAACTTGC	0.493000													21	47					0	0	0.001523	0	0
SERPINB4	6318	broad.mit.edu	37	18	61304983	61304983	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:61304983G>A	ENST00000341074.5	-	8	1258	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	SERPINB4_ENST00000356424.6_Silent_p.I329I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CATAGAAGAGGATGCTGTTGG	0.393000													62	89					0	0	0.003610	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600958	161600958	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161600958G>A	ENST00000531221.1	-	1	38	c.35C>T	c.(34-36)cCc>cTc	p.P12L	FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Intron|FCGR3B_ENST00000294800.3_5'UTR			O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	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)	TAGACAGGAGGGAGTAAACAG	0.512000													5	40					0	0	0.000602	0	0
PATE1	160065	broad.mit.edu	37	11	125617706	125617706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:125617706G>A	ENST00000305738.5	+	4	248	c.236G>A	c.(235-237)aGg>aAg	p.R79K	PATE1_ENST00000437148.2_Missense_Mutation_p.R67K	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	79						extracellular region				large_intestine(1)|lung(5)	6						ATGGTTGGAAGGATGTTCAAA	0.493000													17	61					0	0	0.000958	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551704	1551704	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:1551704G>A	ENST00000381605.4	-	4	895	c.831C>T	c.(829-831)ttC>ttT	p.F277F	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	277	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCCGGGGGTAGAAATTGCTCA	0.537000													24	43					0	0	0.004656	0	0
KMT2C	58508	broad.mit.edu	37	7	151860685	151860685	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:151860685G>A	ENST00000355193.2	-	43	10195	c.9977C>T	c.(9976-9978)cCt>cTt	p.P3326L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P3326L					lysine (K)-specific methyltransferase 2C																		CATTCTAACAGGGCTAGTATG	0.557000													23	22					0	0	0.002299	0	0
AGGF1	55109	broad.mit.edu	37	5	76349860	76349860	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:76349860C>T	ENST00000312916.7	+	10	1920	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	513					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACTGTCTTATCCTTTCACATT	0.423000													178	461					0	0	0.003610	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439881	150439881	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:150439881C>T	ENST00000358647.3	+	3	1021	c.654C>T	c.(652-654)ttC>ttT	p.F218F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGCTCCTTCCACAGCAATG	0.602000													25	72					0	0	0.004656	0	0
BMPER	168667	broad.mit.edu	37	7	34094863	34094863	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:34094863G>A	ENST00000297161.2	+	10	1249	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	BMPER_ENST00000426693.1_Missense_Mutation_p.R292Q	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	292					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCCTCCTACGAGTGCCCCCA	0.522000													77	77					0	0	0.003610	0	0
CASC3	22794	broad.mit.edu	37	17	38319959	38319959	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38319959C>T	ENST00000264645.7	+	7	1237	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	337					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCATGGTGGCCGGTCTGGTG	0.562000													116	74					0	0	0.003610	0	0
MYO5C	55930	broad.mit.edu	37	15	52543596	52543596	+	Silent	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:52543596A>G	ENST00000261839.7	-	13	1814	c.1653T>C	c.(1651-1653)ttT>ttC	p.F551F	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	551	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTATCAGCAAAGTGCTGGA	0.438000													22	65					0	0	0.002780	0	0
FAT3	120114	broad.mit.edu	37	11	92088331	92088331	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:92088331C>T	ENST00000298047.6	+	1	3070	c.3053C>T	c.(3052-3054)cCt>cTt	p.P1018L	FAT3_ENST00000541502.1_Missense_Mutation_p.P1018L|FAT3_ENST00000525166.1_Missense_Mutation_p.P868L|FAT3_ENST00000409404.2_Missense_Mutation_p.P1018L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1018	Cadherin 9.				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)				AAAGGGCGGCCTGTCTCTCTG	0.463000										TCGA Ovarian(4;0.039)			280	189					0	0	0.003610	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732618	37732618	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:37732618G>A	ENST00000330843.4	-	3	1049	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P346L|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P198L|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P198L	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	346					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAAGCCCTTGGGGGATGGGGA	0.552000													171	259					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175052934	175052934	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:175052934C>T	ENST00000239462.4	+	5	1210	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	366	Fibronectin type-III 2.				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)		ACTGAGAACTCCCTTGACGTG	0.567000													21	56					0	0	0.003330	0	0
ZNF208	7757	broad.mit.edu	37	19	22156615	22156615	+	Silent	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:22156615A>G	ENST00000397126.4	-	4	1369	c.1221T>C	c.(1219-1221)agT>agC	p.S407S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGAACATACTAAAACCTT	0.398000													7	44					0	0	0.003080	0	0
VCL	7414	broad.mit.edu	37	10	75834566	75834566	+	Missense_Mutation	SNP	C	C	T	rs139312390	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:75834566C>T	ENST00000211998.4	+	6	782	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R230C	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	230	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTAAAAAATCGCAATTTTAC	0.348000													27	52					0	0	0.001061	0	0
MYOM1	8736	broad.mit.edu	37	18	3126739	3126739	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:3126739C>T	ENST00000400569.3	-	19	3284	c.2951G>A	c.(2950-2952)aGa>aAa	p.R984K	MYOM1_ENST00000356443.4_Missense_Mutation_p.R984K|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Missense_Mutation_p.R888K			P52179	MYOM1_HUMAN	myomesin 1	984	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGGCTTCTCTCCATTTTCC	0.483000													11	34					0	0	0.001368	0	0
ADAM32	203102	broad.mit.edu	37	8	39111981	39111981	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:39111981C>T	ENST00000379907.4	+	18	2078	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ADAM32_ENST00000519315.1_Missense_Mutation_p.P545S|ADAM32_ENST00000437682.2_Missense_Mutation_p.P552S	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	651	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTATAAGCCTCCAAACTGCCA	0.333000													10	12					0	0	0.001855	0	0
SGK1	6446	broad.mit.edu	37	6	134493877	134493877	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:134493877C>T	ENST00000367858.5	-	9	1467	c.870G>A	c.(868-870)ctG>ctA	p.L290L	SGK1_ENST00000413996.3_Silent_p.L209L|SGK1_ENST00000528577.1_Silent_p.L223L|SGK1_ENST00000367857.5_Silent_p.L185L|SGK1_ENST00000237305.7_Silent_p.L195L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.L151L	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	195	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CCCGTGGTTCCAGGAAGCAGC	0.468000													12	22					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179577980	179577980	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179577980G>A	ENST00000589042.1	-	93	27105	c.26881C>T	c.(26881-26883)Cat>Tat	p.H8961Y	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H8644Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H7717Y|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8644	Ig-like 72.						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)			TTTCCTTCATGGAACCAGGAG	0.428000													12	13					0	0	0.001855	0	0
NWD1	284434	broad.mit.edu	37	19	16872877	16872877	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:16872877G>A	ENST00000524140.2	+	8	2479	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	NWD1_ENST00000339803.6_Silent_p.G552G|NWD1_ENST00000552788.1_Silent_p.G687G|NWD1_ENST00000379808.3_Silent_p.G687G|NWD1_ENST00000523826.1_Silent_p.G481G|NWD1_ENST00000549814.1_Silent_p.G687G	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	687							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTTCTCAGGGACCTGGAGCC	0.592000													12	46					0	0	0.001368	0	0
PREPL	9581	broad.mit.edu	37	2	44553880	44553880	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:44553880G>A	ENST00000541738.1	-	10	1836	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	PREPL_ENST00000409411.1_Missense_Mutation_p.P484S|PREPL_ENST00000378511.3_Missense_Mutation_p.P511S|PREPL_ENST00000409272.1_Missense_Mutation_p.P573S|PREPL_ENST00000260648.6_Missense_Mutation_p.P573S|PREPL_ENST00000378520.3_Missense_Mutation_p.P507S|PREPL_ENST00000409936.1_Missense_Mutation_p.P573S|PREPL_ENST00000410081.1_Missense_Mutation_p.P573S|PREPL_ENST00000409957.1_Missense_Mutation_p.P484S	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	573					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCAGCTCTGGATTAGAATTA	0.483000													49	36					0	0	0.003610	0	0
ACIN1	22985	broad.mit.edu	37	14	23528545	23528545	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:23528545G>A	ENST00000262710.1	-	19	4165	c.3838C>T	c.(3838-3840)Cgt>Tgt	p.R1280C	ACIN1_ENST00000338631.6_Missense_Mutation_p.R553C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R521C|ACIN1_ENST00000357481.2_Missense_Mutation_p.R522C|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1222C|ACIN1_ENST00000397341.3_Missense_Mutation_p.R522C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1267C|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1240C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1280	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGCTCCCGACGTTTCTCTCGC	0.617000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	0					0	0	0.001984	0	0
CLCN1	1180	broad.mit.edu	37	7	143029844	143029844	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:143029844T>A	ENST00000343257.2	+	12	1366	c.1279T>A	c.(1279-1281)Ttg>Atg	p.L427M		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	427					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)					CATCAGTACTTTGTTTGACAA	0.512000													101	128					0	0	0.003610	0	0
ASPM	259266	broad.mit.edu	37	1	197074116	197074116	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:197074116G>A	ENST00000367409.4	-	18	4521	c.4265C>T	c.(4264-4266)tCa>tTa	p.S1422L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1422	IQ 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGAGTTGATGATTTTAGCAT	0.318000													19	96					0	0	0.006122	0	0
OR4A16	81327	broad.mit.edu	37	11	55110705	55110705	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55110705T>A	ENST00000314721.2	+	1	79	c.29T>A	c.(28-30)tTt>tAt	p.F10Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTACAGAATTTGTCCTCCTG	0.383000													5	19					0	0	0.000602	0	0
GARS	2617	broad.mit.edu	37	7	30671904	30671904	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:30671904G>A	ENST00000389266.3	+	16	2186	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	649					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAGTAGACGATTCCTCTGG	0.448000													16	46					0	0	0.006122	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933711	94933711	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:94933711C>T	ENST00000337425.5	-	3	765	c.691G>A	c.(691-693)Gag>Aag	p.E231K	SERPINA9_ENST00000546329.1_Missense_Mutation_p.E195K|SERPINA9_ENST00000380365.3_Missense_Mutation_p.E213K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.E131K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.E82K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.E133K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	213					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAGGGCTTCTCCCACTTGGCT	0.453000													28	6					0	0	0.002096	0	0
PGK2	5232	broad.mit.edu	37	6	49753976	49753976	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:49753976G>A	ENST00000304801.3	-	1	1077	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	309					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)					ATCCAGCCAGGAGATATGCCA	0.468000													65	96					0	0	0.003610	0	0
CEP164	22897	broad.mit.edu	37	11	117222542	117222542	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:117222542C>T	ENST00000278935.3	+	5	378	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	77	Interaction with ATRIP.|WW.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		ATTTCAACTTCGCCAACGGGC	0.478000													70	37					0	0	0.003610	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981924	51981924	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:51981924C>T	ENST00000396477.4	+	1	49	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	CEACAM18_ENST00000451626.1_Silent_p.L71L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	71						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGATGGAGCCTGTGGAGGAG	0.627000													20	30					0	0	0.001523	0	0
WDR49	151790	broad.mit.edu	37	3	167247024	167247024	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:167247024C>T	ENST00000308378.3	-	10	1471	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	WDR49_ENST00000453925.2_Missense_Mutation_p.G453E|WDR49_ENST00000476376.1_Missense_Mutation_p.G214E|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	389										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGGTTAGCTCCTCCTAACAT	0.393000													26	21					0	0	0.005443	0	0
INTS4P2	644619	broad.mit.edu	37	7	65157761	65157761	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:65157761C>T	ENST00000430126.2	+	0	1088																											GTTCTCAGATCACACCGTCAG	0.408000													27	140					0	0	0.001061	0	0
SLC13A3	64849	broad.mit.edu	37	20	45195020	45195020	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:45195020G>A	ENST00000279027.4	-	11	1360	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	SLC13A3_ENST00000472148.1_Silent_p.L366L|SLC13A3_ENST00000413164.2_Silent_p.L398L|SLC13A3_ENST00000435032.1_Silent_p.L33L|SLC13A3_ENST00000290317.5_Silent_p.L401L|SLC13A3_ENST00000396360.1_Silent_p.L366L|SLC13A3_ENST00000495082.1_Silent_p.L401L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	448						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CATACAGACAGCCCCGATTCC	0.597000													19	90					0	0	0.001882	0	0
PMEL	6490	broad.mit.edu	37	12	56349584	56349584	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:56349584A>G	ENST00000548747.1	-	8	2197	c.1535T>C	c.(1534-1536)cTg>cCg	p.L512P	PMEL_ENST00000536427.1_Missense_Mutation_p.L470P|PMEL_ENST00000449260.2_Missense_Mutation_p.L512P|PMEL_ENST00000552882.1_Missense_Mutation_p.L512P|PMEL_ENST00000550464.1_Missense_Mutation_p.L426P|PMEL_ENST00000539511.1_Missense_Mutation_p.L426P|PMEL_ENST00000360714.4_Missense_Mutation_p.L512P|PMEL_ENST00000548493.1_Missense_Mutation_p.L512P|PMEL_ENST00000550447.1_Missense_Mutation_p.L141P			P40967	PMEL_HUMAN	premelanosome protein	512					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGACACAGTCAGCTCAAATGC	0.522000											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	22					0	0	0.002299	0	0
IARS2	55699	broad.mit.edu	37	1	220298681	220298681	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:220298681G>A	ENST00000366922.1	+	13	1858	c.1527_splice	c.e13+1	p.E509_splice	IARS2_ENST00000302637.5_Splice_Site_p.E581_splice			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	581					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TCTTATCTGAGGTAAATTTCT	0.343000													7	49					0	0	0.003080	0	0
CILP2	148113	broad.mit.edu	37	19	19653450	19653450	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:19653450G>A	ENST00000586018.1	+	5	979	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CILP2_ENST00000291495.4_Missense_Mutation_p.D287N			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	287	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATCATCCTTGATAAGTTGGG	0.562000													20	30					0	0	0.003330	0	0
DSCAML1	57453	broad.mit.edu	37	11	117667821	117667821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:117667821G>A	ENST00000321322.6	-	1	155	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	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)		ATTCTCCGGGGAGGTGGTCCT	0.687000													18	6					0	0	0.001882	0	0
PNISR	25957	broad.mit.edu	37	6	99857138	99857138	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:99857138G>A	ENST00000369239.5	-	6	788	c.584C>T	c.(583-585)cCc>cTc	p.P195L	PNISR_ENST00000438806.1_Missense_Mutation_p.P195L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	195	Pro-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCGATTCTGGGGAGGTGCTGG	0.507000													32	5					0	0	0.002096	0	0
CACNA1S	779	broad.mit.edu	37	1	201030461	201030461	+	Silent	SNP	G	G	A	rs150020550		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:201030461G>A	ENST00000362061.3	-	25	3415	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	CACNA1S_ENST00000367338.3_Silent_p.F1063F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1063	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.F1063F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGACAATGACGAAGCCCACAA	0.522000													52	32					0	0	0.003610	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752368	62752368	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:62752368C>T	ENST00000331425.6	-	0	1067					NR_003952.1																						TAGTAAGGTTCGAGGATAAGC	0.428000													11	17					0	0	0.000978	0	0
AOC3	8639	broad.mit.edu	37	17	41004593	41004593	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:41004593G>A	ENST00000308423.2	+	1	1393	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	411					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCACCTACGTGGACTGGCACT	0.597000													46	21					0	0	0.003610	0	0
MYH6	4624	broad.mit.edu	37	14	23872987	23872987	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:23872987C>T	ENST00000405093.3	-	9	806	c.735_splice	c.e9-1	p.G246_splice	MYH6_ENST00000356287.3_Splice_Site_p.G246_splice	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	246	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATGAATTTCCCCTGGGGACGA	0.562000													4	4					0	0	0.000248	0	0
PHKA1	5255	broad.mit.edu	37	X	71887293	71887293	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:71887293G>A	ENST00000373545.3	-	7	1087	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	PHKA1_ENST00000373539.3_Silent_p.L217L|PHKA1_ENST00000541944.1_Silent_p.L217L|PHKA1_ENST00000339490.3_Silent_p.L217L|PHKA1_ENST00000373542.4_Silent_p.L217L			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	217					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACACCAAACAGATCCAGTTCA	0.403000													7	1					0	0	0.001984	0	0
CHD3	1107	broad.mit.edu	37	17	7808417	7808417	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:7808417G>A	ENST00000380358.4	+	26	4250		c.e26-1		CHD3_ENST00000330494.7_Splice_Site|CHD3_ENST00000358181.4_Splice_Site	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCCCACAGACAACCAGTC	0.572000													35	28					0	0	0.001287	0	0
PACRGL	133015	broad.mit.edu	37	4	20714489	20714489	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:20714489C>T	ENST00000360916.5	+	6	836	c.445C>T	c.(445-447)Cct>Tct	p.P149S	PACRGL_ENST00000503585.1_Missense_Mutation_p.P149S|PACRGL_ENST00000507634.1_Missense_Mutation_p.P149S|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000513459.1_Missense_Mutation_p.P96S|PACRGL_ENST00000295290.8_Missense_Mutation_p.P149S|PACRGL_ENST00000502374.1_Missense_Mutation_p.P96S|PACRGL_ENST00000502938.1_Intron	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	149							binding			endometrium(2)|lung(7)|prostate(1)	10						CAAAGGTGCTCCTGAAAAAGC	0.383000													59	134					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55534741	55534741	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:55534741T>G	ENST00000220676.1	+	3	828	c.680T>G	c.(679-681)tTt>tGt	p.F227C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	227	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGGAGCCATTTAAACCAGGA	0.493000													10	61					0	0	0.000978	0	0
CCKAR	886	broad.mit.edu	37	4	26483644	26483644	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:26483644G>A	ENST00000295589.3	-	5	1097	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	301					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGTTGGCTGCGGAGCTGTTAC	0.612000													28	69					0	0	0.003755	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600986	161600986	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161600986C>T	ENST00000531221.1	-	1	10	c.7G>A	c.(7-9)Gga>Aga	p.G3R	FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Intron|FCGR3B_ENST00000294800.3_5'UTR			O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	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)	CCAGTCCCTCCACCCATCTCT	0.502000													15	11					0	0	0.002450	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954738	161954738	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161954738C>T	ENST00000294794.3	-	7	1930	c.1507G>A	c.(1507-1509)Ggg>Agg	p.G503R	OLFML2B_ENST00000367938.1_5'UTR|OLFML2B_ENST00000367940.2_Missense_Mutation_p.G504R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	503	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGTCGGCCCCGTGATTGTG	0.542000													25	145					0	0	0.001786	0	0
TRANK1	9881	broad.mit.edu	37	3	36874608	36874608	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:36874608G>A	ENST00000429976.2	-	21	6581	c.6334C>T	c.(6334-6336)Cat>Tat	p.H2112Y	TRANK1_ENST00000301807.6_Missense_Mutation_p.H1562Y|TRANK1_ENST00000428977.2_Missense_Mutation_p.H1562Y			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2112					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCAAAAAATGATCTTTTGTT	0.423000													5	20					0	0	0.000602	0	0
TPTE	7179	broad.mit.edu	37	21	10951354	10951354	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:10951354G>T	ENST00000298232.7	-	9	671	c.304C>A	c.(304-306)Ctt>Att	p.L102I	TPTE_ENST00000342420.5_Missense_Mutation_p.L82I|TPTE_ENST00000361285.4_Missense_Mutation_p.L120I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	120					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)		GGAATATAAAGTTTGCTGTCA	0.323000													15	137					2.39187e-15	5.19581e-15	0.001216	1	0
CYP2C8	1558	broad.mit.edu	37	10	96805708	96805708	+	Splice_Site	SNP	C	C	T	rs78637571	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:96805708C>T	ENST00000371270.3	-	6	914	c.819_splice	c.e6-1	p.E274_splice	CYP2C8_ENST00000535898.1_Splice_Site_p.E172_splice|CYP2C8_ENST00000539050.1_Splice_Site_p.E188_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	274					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTGTCCTTTTCCTAGAAGTGA	0.328000													26	5					0	0	0.004656	0	0
SLC2A14	144195	broad.mit.edu	37	12	8023632	8023632	+	Translation_Start_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:8023632C>T	ENST00000340749.5	-	0	148				SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Intron|SLC2A14_ENST00000544749.1_5'UTR|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000543909.1_De_novo_Start_InFrame|SLC2A14_ENST00000396589.2_Intron|SLC2A14_ENST00000431042.2_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCTGGCTTCACCGCGGAAGAA	0.537000													6	7					0	0	0.001168	0	0
ZFHX3	463	broad.mit.edu	37	16	72992171	72992171	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:72992171G>A	ENST00000268489.5	-	2	2546	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	625					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)				CTCGCAGAGGGAGCCAGCGTG	0.632000													25	12					0	0	0.003330	0	0
CDH6	1004	broad.mit.edu	37	5	31323178	31323178	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:31323178C>T	ENST00000265071.2	+	12	2401	c.2136C>T	c.(2134-2136)gtC>gtT	p.V712V		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	712					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						ACACCGATGTCAGAGATTTCA	0.527000													21	18					0	0	0.003330	0	0
NSD1	64324	broad.mit.edu	37	5	176637511	176637511	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:176637511T>A	ENST00000439151.2	+	5	2156	c.2111T>A	c.(2110-2112)aTt>aAt	p.I704N	NSD1_ENST00000354179.4_Missense_Mutation_p.I435N|NSD1_ENST00000347982.4_Missense_Mutation_p.I435N|NSD1_ENST00000361032.4_Missense_Mutation_p.I601N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	704					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGCCTCTCATTAGTAACTCA	0.403000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	37					0	0	0.004990	0	0
ADGRG6	57211	broad.mit.edu	37	6	142729377	142729377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:142729377C>T	ENST00000230173.6	+	16	2835	c.2359C>T	c.(2359-2361)Caa>Taa	p.Q787*	GPR126_ENST00000296932.8_Nonsense_Mutation_p.Q759*|GPR126_ENST00000367609.3_Nonsense_Mutation_p.Q787*|GPR126_ENST00000367608.2_Nonsense_Mutation_p.Q759*	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	787					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGATCCTGTTCAAATAAAAAT	0.363000													7	0					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179536884	179536884	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179536884C>T	ENST00000589042.1	-	155	35265	c.35041G>A	c.(35041-35043)Gaa>Aaa	p.E11681K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11307K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10380K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11547	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACtcttcttcttccggaatt	0.353000													7	11					0	0	0.001984	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180661	32180661	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:32180661C>T	ENST00000375023.3	-	16	2604	c.2466G>A	c.(2464-2466)caG>caA	p.Q822Q	NOTCH4_ENST00000465528.1_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	822	EGF-like 21.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGGGCTGTCCTGGCAGGTTG	0.592000													55	153					0	0	0.003610	0	0
FBXW5	54461	broad.mit.edu	37	9	139836504	139836504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:139836504G>A	ENST00000325285.3	-	6	1169	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	364							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTACCGATCTGGTGTGGGGAG	0.667000													6	16					0	0	0.001168	0	0
CUX1	1523	broad.mit.edu	37	7	101844909	101844909	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:101844909C>T	ENST00000360264.3	+	18	2385	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.L620L|CUX1_ENST00000550008.2_Silent_p.L722L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Silent_p.L756L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.L676L|CUX1_ENST00000292535.7_Silent_p.L778L|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	778					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCCTCTGCTCTGCCGAACCC	0.672000													60	59					0	0	0.003610	0	0
DGKD	8527	broad.mit.edu	37	2	234368862	234368862	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234368862C>T	ENST00000264057.2	+	24	2864	c.2852C>T	c.(2851-2853)tCc>tTc	p.S951F	DGKD_ENST00000409813.3_Missense_Mutation_p.S907F	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	951					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCTGAAGTCCTGGGAAGAC	0.577000													13	55					0	0	0.001855	0	0
PRLR	5618	broad.mit.edu	37	5	35065834	35065834	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:35065834C>T	ENST00000382002.5	-	10	1652	c.1226G>A	c.(1225-1227)gGt>gAt	p.G409D	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.G308D|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.G308D|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	409					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTGGATCCACCAGCATGAAA	0.512000													50	147					0	0	0.003610	0	0
VPS4B	9525	broad.mit.edu	37	18	61060688	61060688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:61060688C>T	ENST00000238497.5	-	10	1390	c.1187G>A	c.(1186-1188)tGg>tAg	p.W396*		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	396					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GACATCCATCCATGTCATTTC	0.398000													22	80					0	0	0.003954	0	0
AKAP6	9472	broad.mit.edu	37	14	33291974	33291974	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:33291974G>A	ENST00000280979.4	+	13	5125	c.4955G>A	c.(4954-4956)cGa>cAa	p.R1652Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1652	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGATAAAACGAAGTGTTTCT	0.423000													29	6					0	0	0.001512	0	0
PADI6	353238	broad.mit.edu	37	1	17723616	17723616	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:17723616G>A	ENST00000434762.2	+	0	1719							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAAGCCTGAAGAAGCAGAATG	0.567000													10	22					0	0	0.000673	0	0
OR4C12	283093	broad.mit.edu	37	11	50003790	50003790	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:50003790G>A	ENST00000335238.4	-	1	281	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTCTTGAAAGGAATCCACAAT	0.438000													68	50					0	0	0.003610	0	0
TTLL11	158135	broad.mit.edu	37	9	124752024	124752024	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:124752024G>A	ENST00000321582.5	-	4	1176	c.989C>T	c.(988-990)cCc>cTc	p.P330L	TTLL11_ENST00000373776.3_Missense_Mutation_p.P330L|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	330	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CTTCCAGGAGGGGTCATCGTC	0.507000													85	16					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9060965	9060965	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9060965C>T	ENST00000397910.4	-	3	26684	c.26481G>A	c.(26479-26481)ggG>ggA	p.G8827G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8829	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						GAGTGGTCATCCCTGAGTGTG	0.537000													28	90					0	0	0.005443	0	0
TMPPE	643853	broad.mit.edu	37	3	33135202	33135202	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:33135202G>A	ENST00000342462.4	-	2	676	c.486C>T	c.(484-486)ctC>ctT	p.L162L	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Silent_p.L25L|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	162						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GCCTGAGCACGAGCTTCCTTG	0.627000													14	14					0	0	0.004007	0	0
TMEM200A	114801	broad.mit.edu	37	6	130763021	130763021	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:130763021G>A	ENST00000392429.1	+	2	3832	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	TMEM200A_ENST00000296978.3_Missense_Mutation_p.G485E|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G485E	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	485						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTAAAGAGGGGAACTTCTGAA	0.299000													28	1					0	0	0.001512	0	0
UNC13C	440279	broad.mit.edu	37	15	54306885	54306885	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:54306885G>A	ENST00000545554.1	+	1	1785	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	UNC13C_ENST00000537900.1_Silent_p.A595A|UNC13C_ENST00000260323.11_Silent_p.A595A			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	595					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A595A(2)		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)		AAGGAACAGCGACCCTGTATG	0.458000													41	47					0	0	0.001287	0	0
CMYA5	202333	broad.mit.edu	37	5	79026253	79026253	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:79026253G>A	ENST00000446378.2	+	2	1696	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	555	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCCTGAAGTGGAGCACAAAG	0.418000													82	145					0	0	0.003610	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032553	43032553	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:43032553G>A	ENST00000399770.2	+	4	869	c.869G>A	c.(868-870)gGt>gAt	p.G290D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	290					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						AACTGTGCTGGTTAATTGGAG	0.348000													38	76					0	0	0.001951	0	0
FERD3L	222894	broad.mit.edu	37	7	19184726	19184726	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:19184726G>A	ENST00000275461.3	-	1	318	c.260C>T	c.(259-261)tCc>tTc	p.S87F	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	87					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCCTAATAGGGAGACAcctct	0.612000													5	19					0	0	0.000602	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664101	44664101	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:44664101C>T	ENST00000454036.1	+	3	351	c.275C>T	c.(274-276)aCc>aTc	p.T92I	SLC12A5_ENST00000539566.1_Missense_Mutation_p.T69I|SLC12A5_ENST00000243964.3_Missense_Mutation_p.T69I|SLC12A5_ENST00000372315.1_Missense_Mutation_p.T69I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	92					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCAACTACACCAACCTGCCC	0.577000													58	73					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32056824	32056824	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:32056824C>T	ENST00000375244.3	-	6	2718	c.2515_splice	c.e6-1	p.M839_splice	TNXB_ENST00000375247.2_Splice_Site_p.M839_splice			P22105	TENX_HUMAN	tenascin XB	791	Fibronectin type-III 1.				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						GCCCATCGATCACTAGCCAGG	0.582000													53	173					0	0	0.003610	0	0
NRG2	9542	broad.mit.edu	37	5	139231202	139231202	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:139231202G>A	ENST00000541337.1	-	7	1790	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	NRG2_ENST00000545385.1_Missense_Mutation_p.P589S|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Missense_Mutation_p.P587S|NRG2_ENST00000289422.7_Missense_Mutation_p.P595S|NRG2_ENST00000340391.3_Missense_Mutation_p.P384S|NRG2_ENST00000358522.3_Missense_Mutation_p.P589S|NRG2_ENST00000289409.4_Missense_Mutation_p.P581S	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	587					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCTGTGTGGGGAGTCGCGA	0.667000													13	20					0	0	0.004007	0	0
FOXO1	2308	broad.mit.edu	37	13	41133723	41133723	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:41133723C>T	ENST00000379561.5	-	2	2289	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	635					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGTTGGGCAACACATTGTCAA	0.453000													32	71					0	0	0.002096	0	0
COL24A1	255631	broad.mit.edu	37	1	86591268	86591268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:86591268C>T	ENST00000370571.2	-	3	1117	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E251K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	251					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATGCTTGTTTCAGGTTGGTAT	0.418000													26	54					0	0	0.002096	0	0
DNAH7	56171	broad.mit.edu	37	2	196664077	196664077	+	Silent	SNP	G	G	A	rs76632128	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:196664077G>A	ENST00000312428.6	-	55	10396	c.10296C>T	c.(10294-10296)ttC>ttT	p.F3432F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3432	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F3432F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGAGAGCACGAAAATCAGTG	0.413000													109	76					0	0	0.003610	0	0
LDLR	3949	broad.mit.edu	37	19	11215952	11215952	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:11215952C>T	ENST00000558518.1	+	4	557	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	LDLR_ENST00000455727.2_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.R83W|LDLR_ENST00000558013.1_Missense_Mutation_p.R124W|LDLR_ENST00000557933.1_Missense_Mutation_p.R124W|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	124	LDL-receptor class A 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTGCATCTCTCGGCAGTTCGT	0.632000													78	320					0	0	0.003610	0	0
KIDINS220	57498	broad.mit.edu	37	2	8930116	8930116	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:8930116G>A	ENST00000256707.3	-	14	1696	c.1515C>T	c.(1513-1515)acC>acT	p.T505T	KIDINS220_ENST00000418530.1_Silent_p.T463T|KIDINS220_ENST00000319688.5_Silent_p.T506T|KIDINS220_ENST00000427284.1_Silent_p.T505T|KIDINS220_ENST00000473731.1_Silent_p.T505T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	505	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAAGTAGCAGGGTAAGAAACA	0.423000													30	74					0	0	0.001786	0	0
FOLR1	2348	broad.mit.edu	37	11	71907164	71907164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:71907164G>A	ENST00000393679.1	+	5	1153	c.717G>A	c.(715-717)tgG>tgA	p.W239*	FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W239*|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W239*|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W239*|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	239					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CTGGGCCCTGGGCAGCCTGGC	0.607000													13	48					0	0	0.002450	0	0
MMP26	56547	broad.mit.edu	37	11	5011962	5011962	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:5011962C>T	ENST00000380390.1	+	4	671	c.455C>T	c.(454-456)tCt>tTt	p.S152F	MMP26_ENST00000300762.1_Missense_Mutation_p.S152F			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	152					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCAAGGTTTCTTTCTGGCAG	0.428000													49	25					0	0	0.003610	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640563	99640563	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:99640563G>A	ENST00000547776.2	-	13	1835	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.S612S|ANKS1B_ENST00000547010.1_Silent_p.S192S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	612						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGGCTGGAGAGGATCCATGGA	0.463000													99	88					0	0	0.003610	0	0
NEURL3	93082	broad.mit.edu	37	2	97166168	97166168	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:97166168C>T	ENST00000310865.3	-	0	752									neuralized E3 ubiquitin protein ligase 3																		TCCCCATGGTCGCCTCACCCA	0.662000													5	12					0	0	0.001984	0	0
ENPEP	2028	broad.mit.edu	37	4	111397845	111397845	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:111397845G>A	ENST00000265162.5	+	1	617	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAAAACTTTCGACTGCCGGAC	0.612000													51	29					0	0	0.003610	0	0
LOC150776	150776	broad.mit.edu	37	2	132266141	132266141	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:132266141C>T	ENST00000438378.2	+	0	1194					NR_026922.1																						CATCACTATTCGTTGGAGATG	0.458000													20	14					0	0	0.003330	0	0
HHIPL2	79802	broad.mit.edu	37	1	222700379	222700379	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:222700379G>A	ENST00000343410.6	-	7	1795	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	579					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGGTCGCCAGGAAATACAGCT	0.443000													62	272					0	0	0.003610	0	0
DCAF17	80067	broad.mit.edu	37	2	172306462	172306462	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:172306462C>T	ENST00000375255.3	+	5	859	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.R178W	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	178						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGCAGTGGCCCGGCAGGTATA	0.348000													11	45					0	0	0.001368	0	0
FZD2	2535	broad.mit.edu	37	17	42636355	42636355	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:42636355C>T	ENST00000315323.3	+	1	1431	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	433					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A433A(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCTCCTGGCCGGCTTCGTGT	0.637000													23	61					0	0	0.002780	0	0
CUL9	23113	broad.mit.edu	37	6	43181575	43181575	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:43181575C>T	ENST00000252050.4	+	29	5697	c.5613C>T	c.(5611-5613)ctC>ctT	p.L1871L	CUL9_ENST00000372647.2_Silent_p.L1843L|CUL9_ENST00000354495.3_Silent_p.L1761L|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1871					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGAGGAATCTCTTGAGCTGTC	0.552000													44	44					0	0	0.003214	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494446	20494446	+	Missense_Mutation	SNP	G	G	A	rs144620533		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:20494446G>A	ENST00000573854.1	+	13	1690	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	ACSM2A_ENST00000575690.1_Missense_Mutation_p.E526K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E526K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E298K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E447K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E526K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	526					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTCACCAAGGAGCTGCAGCA	0.502000													37	85					0	0	0.001706	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498292	73498292	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:73498292C>T	ENST00000321617.3	-	18	3449	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E873K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	955	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTTCCCTTCCTCTGCAAAC	0.697000													19	48					0	0	0.001216	0	0
TPD52L1	7164	broad.mit.edu	37	6	125550371	125550371	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:125550371G>A	ENST00000534000.1	+	3	539	c.243G>A	c.(241-243)caG>caA	p.Q81Q	TPD52L1_ENST00000534199.1_Silent_p.Q52Q|TPD52L1_ENST00000368402.5_Silent_p.Q81Q|TPD52L1_ENST00000304877.13_Silent_p.Q81Q|TPD52L1_ENST00000392482.2_Silent_p.Q52Q|TPD52L1_ENST00000532429.1_Silent_p.Q52Q|TPD52L1_ENST00000528193.1_Silent_p.Q81Q|TPD52L1_ENST00000524679.1_Silent_p.Q52Q|TPD52L1_ENST00000527711.1_Silent_p.Q81Q|TPD52L1_ENST00000368388.2_Silent_p.Q81Q	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	81					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AATTAAAACAGAACTTCAGCA	0.388000													22	25					0	0	0.002780	0	0
XYLT2	64132	broad.mit.edu	37	17	48433213	48433213	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:48433213G>A	ENST00000017003.2	+	6	1209	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	XYLT2_ENST00000507602.1_Missense_Mutation_p.R387Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	387					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)					CTGGGCGAGCGGCAGATCCCA	0.597000													11	28					0	0	0.000978	0	0
CDHR2	54825	broad.mit.edu	37	5	176019773	176019773	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:176019773G>A	ENST00000510636.1	+	31	4058	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E1262K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E1262K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1262					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAACAGTCAGGAAATCAAGGC	0.542000													39	29					0	0	0.003214	0	0
PABPC3	5042	broad.mit.edu	37	13	25670978	25670978	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:25670978C>T	ENST00000281589.3	+	1	679	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	214	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGCAAGTTCGGGCCCGCCT	0.433000													16	39					0	0	0.006122	0	0
MROH7	374977	broad.mit.edu	37	1	55152110	55152110	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:55152110C>T	ENST00000414150.2	+	15	2978	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	MROH7_ENST00000545244.1_Silent_p.F468F|MROH7_ENST00000409996.1_Silent_p.F468F|MROH7_ENST00000454855.2_Silent_p.F418F|MROH7_ENST00000395690.2_Silent_p.F900F|MROH7_ENST00000421030.2_Silent_p.F900F|MROH7_ENST00000339553.5_Silent_p.F900F					maestro heat-like repeat family member 7																		CCTCTCCCTTCGTACCTGTGC	0.607000													33	23					0	0	0.004289	0	0
SPATS2L	26010	broad.mit.edu	37	2	201284162	201284162	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:201284162C>T	ENST00000409988.3	+	6	911	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	SPATS2L_ENST00000409755.3_Missense_Mutation_p.R160C|SPATS2L_ENST00000409718.1_Missense_Mutation_p.R130C|SPATS2L_ENST00000409140.3_Missense_Mutation_p.R130C|SPATS2L_ENST00000451764.2_Missense_Mutation_p.R130C|SPATS2L_ENST00000409385.1_Missense_Mutation_p.R70C|SPATS2L_ENST00000409151.1_Missense_Mutation_p.R138C|SPATS2L_ENST00000360760.5_Missense_Mutation_p.R130C|SPATS2L_ENST00000358677.4_Missense_Mutation_p.R130C	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	130						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CCTTATCCCTCGTGAGAAAAA	0.488000													5	36					0	0	0.000602	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776575	159776575	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:159776575G>A	ENST00000393975.3	-	3	596	c.593C>T	c.(592-594)tCg>tTg	p.S198L		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	153	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTGCCACCGAGAAAGCTGA	0.607000													38	148					0	0	0.003214	0	0
USH2A	7399	broad.mit.edu	37	1	215990524	215990524	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:215990524C>T	ENST00000366943.2	-	48	9771	c.9385G>A	c.(9385-9387)Gat>Aat	p.D3129N	USH2A_ENST00000307340.3_Missense_Mutation_p.D3129N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3129	Fibronectin type-III 18.				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)		GACACCCAATCAATTTGAAGA	0.378000										HNSCC(13;0.011)			74	26					0	0	0.003610	0	0
CYLC1	1538	broad.mit.edu	37	X	83128413	83128413	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:83128413C>T	ENST00000329312.4	+	4	734	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	233					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAGTAATGATCCCATATCAGA	0.328000													8	1					0	0	0.004482	0	0
KLHL7	55975	broad.mit.edu	37	7	23164757	23164757	+	Silent	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:23164757T>C	ENST00000322231.7	+	5	832	c.342T>C	c.(340-342)ttT>ttC	p.F114F	KLHL7_ENST00000339077.4_Silent_p.F136F|KLHL7_ENST00000409689.1_Silent_p.F88F|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000545443.1_Silent_p.F114F|KLHL7_ENST00000539124.1_Silent_p.F60F|KLHL7_ENST00000545771.1_Silent_p.F114F|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000322275.5_Silent_p.F136F|KLHL7_ENST00000410047.1_Silent_p.F114F			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	136						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGTTGATTTTTTGAAAGAAC	0.303000													28	38					0	0	0.002445	0	0
DKK4	27121	broad.mit.edu	37	8	42232279	42232279	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:42232279C>T	ENST00000220812.2	-	3	601	c.415_splice	c.e3+1	p.G139_splice		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	139					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTGTTCTTACCCTTCCTGCCT	0.443000													43	179					0	0	0.002852	0	0
PCDH19	57526	broad.mit.edu	37	X	99662809	99662809	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:99662809T>G	ENST00000373034.4	-	1	2462	c.787A>C	c.(787-789)Agc>Cgc	p.S263R	PCDH19_ENST00000255531.7_Missense_Mutation_p.S263R|PCDH19_ENST00000420881.2_Missense_Mutation_p.S263R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	263	Cadherin 3.				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						TCTGGATCGCTGGCGTTGAGG	0.607000													46	9					0	0	0.003610	0	0
OR6T1	219874	broad.mit.edu	37	11	123814492	123814492	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123814492G>A	ENST00000321252.2	-	1	88	c.54C>T	c.(52-54)ccC>ccT	p.P18P		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGTGGCTACTGGGGAAACCCA	0.478000													33	80					0	0	0.003271	0	0
XRCC1	7515	broad.mit.edu	37	19	44057650	44057650	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:44057650G>A	ENST00000262887.5	-	6	1051	c.504C>T	c.(502-504)acC>acT	p.T168T	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Silent_p.T137T			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	168					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGCCAAGCTTGGTCACTGTCA	0.597000								Other BER factors					32	43					0	0	0.002445	0	0
KRT6B	3854	broad.mit.edu	37	12	52845466	52845466	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:52845466C>T	ENST00000252252.3	-	1	444	c.397G>A	c.(397-399)Gga>Aga	p.G133R		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	133	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGGATGCCTCCAGGGGGGCAC	0.637000													10	63					0	0	0.000978	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451201	110451201	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110451201G>A	ENST00000378402.5	+	32	3940	c.3836G>A	c.(3835-3837)gGa>gAa	p.G1279E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1279	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGTTGGAGGAAAAACCTGC	0.343000										HNSCC(38;0.096)			44	46					0	0	0.001951	0	0
LPCAT2	54947	broad.mit.edu	37	16	55608593	55608593	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:55608593C>T	ENST00000262134.5	+	12	1450	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	422	EF-hand 1.				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCCTGGCTGTCTTGTGCAACC	0.468000													24	57					0	0	0.001786	0	0
KRT6B	3854	broad.mit.edu	37	12	52841007	52841007	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:52841007G>A	ENST00000252252.3	-	9	1709	c.1662C>T	c.(1660-1662)acC>acT	p.T554T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	554	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGGAGGAGGAGGTGGTGGTGT	0.622000													16	66					0	0	0.006122	0	0
TP63	8626	broad.mit.edu	37	3	189612096	189612096	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:189612096C>T	ENST00000264731.3	+	14	1937	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Silent_p.L522L|TP63_ENST00000449992.1_Silent_p.L437L|TP63_ENST00000382063.4_Silent_p.L531L|TP63_ENST00000456148.1_Silent_p.L518L|TP63_ENST00000440651.2_Silent_p.L612L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	616	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTCTCATCTCCTGCGGACCC	0.572000										HNSCC(45;0.13)			52	36					0	0	0.003610	0	0
PARM1	25849	broad.mit.edu	37	4	75938336	75938336	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:75938336G>A	ENST00000307428.7	+	2	957	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	249					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GATCATGCAGGAAGTAGAACA	0.463000													20	15					0	0	0.001882	0	0
PARD3	56288	broad.mit.edu	37	10	34663807	34663807	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:34663807C>T	ENST00000374789.3	-	11	1988	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	PARD3_ENST00000340077.5_Missense_Mutation_p.E555K|PARD3_ENST00000350537.4_Missense_Mutation_p.E555K|PARD3_ENST00000374776.1_Missense_Mutation_p.E555K|PARD3_ENST00000374773.1_Missense_Mutation_p.E555K|PARD3_ENST00000374794.3_Missense_Mutation_p.E511K|PARD3_ENST00000346874.4_Missense_Mutation_p.E555K|PARD3_ENST00000544292.1_Missense_Mutation_p.E285K|PARD3_ENST00000374788.3_Missense_Mutation_p.E555K|PARD3_ENST00000545693.1_Missense_Mutation_p.E555K|PARD3_ENST00000545260.1_Missense_Mutation_p.E511K|PARD3_ENST00000374790.3_Missense_Mutation_p.E511K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	555					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACACCAGTTCCCTTGGGTGG	0.463000													49	81					0	0	0.003610	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132565	11132565	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:11132565C>T	ENST00000358026.2	+	19	3065	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	SMARCA4_ENST00000450717.3_Silent_p.F927F|SMARCA4_ENST00000590574.1_Silent_p.F927F|SMARCA4_ENST00000589677.1_Silent_p.F927F|SMARCA4_ENST00000444061.3_Silent_p.F927F|SMARCA4_ENST00000344626.4_Silent_p.F927F|SMARCA4_ENST00000413806.3_Silent_p.F927F|SMARCA4_ENST00000541122.2_Silent_p.F927F|SMARCA4_ENST00000429416.3_Silent_p.F927F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	927	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCTCAACTTCCTGCTGCCCA	0.622000			"""F, N, Mis"""		NSCLC								31	24					0	0	0.002096	0	0
SNX18	112574	broad.mit.edu	37	5	53814606	53814606	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:53814606C>A	ENST00000343017.6	+	1	1018	c.824C>A	c.(823-825)cCg>cAg	p.P275Q	SNX18_ENST00000326277.3_Missense_Mutation_p.P275Q|SNX18_ENST00000381410.4_Missense_Mutation_p.P275Q	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	275					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AACCCCTACCCGTTCCAGTGC	0.637000													4	58					0.000602214	0.00130045	0.000602	1	0
MYO18A	399687	broad.mit.edu	37	17	27442392	27442392	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:27442392G>A	ENST00000527372.1	-	13	2475	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	MYO18A_ENST00000354329.4_Silent_p.T765T|MYO18A_ENST00000533112.1_Silent_p.T765T|MYO18A_ENST00000531253.1_Silent_p.T765T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	765	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGACGAGAAGGGTGAAGAGCT	0.612000													27	13					0	0	0.002096	0	0
HCAR2	338442	broad.mit.edu	37	12	123187120	123187120	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:123187120G>A	ENST00000328880.5	-	1	770	c.711C>T	c.(709-711)gcC>gcT	p.A237A	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	237					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CAAAGACGATGGCCACCACCA	0.547000													16	39					0	0	0.006122	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71163193	71163193	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:71163193C>T	ENST00000234396.4	+	1	182	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.P37S	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	37					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CATCACCCACCCCCGTGTCAG	0.657000													18	38					0	0	0.001523	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835722	12835722	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:12835722G>A	ENST00000357726.4	+	2	351	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	108										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGGAATGTGGATGAGAACT	0.527000													156	90					0	0	0.003610	0	0
WNT10A	80326	broad.mit.edu	37	2	219746919	219746919	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:219746919C>T	ENST00000258411.3	+	2	783	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	50					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGCCTCCCCCCGGAGCCCG	0.607000													11	26					0	0	0.000673	0	0
ZNF229	7772	broad.mit.edu	37	19	44932656	44932656	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:44932656G>A	ENST00000291187.4	-	6	2604	c.2282C>T	c.(2281-2283)cCc>cTc	p.P761L	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.P767L|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	767					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)				ACATTTATAGGGTTTCTCACC	0.522000													10	67					0	0	0.000443	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734515	12734515	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:12734515C>T	ENST00000380682.1	+	15	2443	c.1937C>T	c.(1936-1938)cCg>cTg	p.P646L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	646					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGGAATCTCCGAGAGGAGCT	0.522000													47	11					0	0	0.003610	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604630	58604630	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:58604630C>T	ENST00000287275.1	-	5	724	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.E112K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	112						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTTATTGCTTCATCCAAGCCC	0.398000													34	34					0	0	0.003271	0	0
FBXO40	51725	broad.mit.edu	37	3	121340598	121340598	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:121340598G>A	ENST00000338040.4	+	3	736	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	108					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)		TGTGGACTCTGAAACCACCCT	0.572000													16	41					0	0	0.004990	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2321950	2321950	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:2321950C>T	ENST00000290974.2	-	7	1089	c.750G>A	c.(748-750)gtG>gtA	p.V250V	ZFYVE28_ENST00000515312.1_Silent_p.V180V|ZFYVE28_ENST00000511071.1_Silent_p.V220V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	250					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ACATGTCTTCCACCTTGCGGT	0.612000													11	36					0	0	0.004990	0	0
TRGV8	6982	broad.mit.edu	37	7	38370122	38370122	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:38370122C>T	ENST00000390343.2	-	0	289																											TGGGGCCTTCCCCTCCTGGTG	0.483000													48	63					0	0	0.003610	0	0
HAP1	9001	broad.mit.edu	37	17	39884452	39884452	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:39884452C>T	ENST00000393939.2	-	7	1210		c.e7+1		HAP1_ENST00000347901.4_Splice_Site|HAP1_ENST00000341193.5_Splice_Site|HAP1_ENST00000310778.5_Splice_Site|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1						brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGACTCACCATCCGGCAG	0.637000													9	33					0	0	0.000978	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998871	72998871	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:72998871G>A	ENST00000322038.5	+	2	1958	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	TSHZ1_ENST00000580243.1_Silent_p.E503E	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	503						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGAGCCAGAGAAGGAGAAGC	0.607000													30	103					0	0	0.002836	0	0
RELL1	768211	broad.mit.edu	37	4	37650950	37650950	+	Silent	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:37650950A>G	ENST00000454158.2	-	2	349	c.261T>C	c.(259-261)cgT>cgC	p.R87R	RELL1_ENST00000314117.4_Silent_p.R87R	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	87						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CTGTTGTACAACGATAGCCTT	0.428000													47	97					0	0	0.003214	0	0
FLT4	2324	broad.mit.edu	37	5	180057595	180057595	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:180057595G>A	ENST00000261937.6	-	3	438	c.360C>T	c.(358-360)atC>atT	p.I120I	FLT4_ENST00000393347.3_Silent_p.I120I|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.I120I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	120	Ig-like C2-type 1.				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)	TGGTGCCCTCGATGCGTGCCT	0.642000													15	26					0	0	0.003163	0	0
SMAD2	4087	broad.mit.edu	37	18	45377680	45377680	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:45377680G>A	ENST00000402690.2	-	7	1143	c.749C>T	c.(748-750)tCt>tTt	p.S250F	SMAD2_ENST00000586040.1_Missense_Mutation_p.S220F|SMAD2_ENST00000356825.4_Missense_Mutation_p.S220F|SMAD2_ENST00000262160.6_Missense_Mutation_p.S250F|SMAD2_ENST00000591214.1_Missense_Mutation_p.S220F	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	250					anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AGTAGTAGGAGATAGTTCTGC	0.323000													34	111					0	0	0.001287	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534946	96534946	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:96534946C>T	ENST00000371321.3	+	2	382	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	100					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGCCATTTCCCACTGGCTG	0.498000													32	47					0	0	0.003271	0	0
KATNAL1	84056	broad.mit.edu	37	13	30784559	30784559	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:30784559G>A	ENST00000380615.3	-	10	1335	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	KATNAL1_ENST00000380617.3_Silent_p.L390L	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	390						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTGATCTTCAGAAGCTCAGCT	0.373000													25	52					0	0	0.005443	0	0
ENOX1	55068	broad.mit.edu	37	13	43872620	43872620	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:43872620G>A	ENST00000261488.6	-	12	1885	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	ENOX1_ENST00000412891.1_Silent_p.L436L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	436					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTGCCAGCGGAGACTGTCAT	0.522000													26	74					0	0	0.002096	0	0
OR5T2	219464	broad.mit.edu	37	11	55999753	55999753	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55999753G>A	ENST00000313264.4	-	1	984	c.909C>T	c.(907-909)tcC>tcT	p.S303S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AAGCATAGCTGGAACTTGGTC	0.423000													32	84					0	0	0.002096	0	0
APPL1	26060	broad.mit.edu	37	3	57282295	57282295	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:57282295C>T	ENST00000288266.3	+	10	926	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	260	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCAGTGATCCCTTATATGTG	0.418000													21	44					0	0	0.004656	0	0
GPR115	221393	broad.mit.edu	37	6	47678608	47678608	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:47678608G>A	ENST00000283303.2	+	4	544	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	GPR115_ENST00000327753.3_Missense_Mutation_p.E96K|GPR115_ENST00000371220.1_Missense_Mutation_p.E153K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	96					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTTTCTGTGGAAAAACTCTT	0.393000													33	31					0	0	0.003755	0	0
TDRKH	11022	broad.mit.edu	37	1	151754010	151754010	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:151754010G>A	ENST00000368822.1	-	3	811	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.P60S|TDRKH_ENST00000368827.6_Missense_Mutation_p.P60S|TDRKH_ENST00000458431.2_Missense_Mutation_p.P60S|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.P60S|TDRKH_ENST00000368825.3_Missense_Mutation_p.P60S			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	60	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCCTGGGGAACCCGCATC	0.463000													39	148					0	0	0.003610	0	0
ME3	10873	broad.mit.edu	37	11	86158197	86158197	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:86158197G>A	ENST00000543262.1	-	12	1616	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	ME3_ENST00000359636.2_Silent_p.A430A|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Silent_p.A430A	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	430					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CGTGGAAGGAGGCCATGTCCC	0.602000													19	46					0	0	0.000958	0	0
CUX1	1523	broad.mit.edu	37	7	101844965	101844965	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:101844965C>T	ENST00000360264.3	+	18	2441	c.2421C>T	c.(2419-2421)ccC>ccT	p.P807P	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.P638P|CUX1_ENST00000550008.2_Silent_p.P740P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Silent_p.P774P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.P694P|CUX1_ENST00000292535.7_Silent_p.P796P|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	796					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGCTGGACCCCCAGGGAGCAG	0.682000													11	33					0	0	0.000673	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669410	234669410	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234669410C>T	ENST00000360418.3	+	1	477	c.477C>T	c.(475-477)atC>atT	p.I159I	UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A1_ENST00000305208.5_Silent_p.I159I|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron			P22309	UD11_HUMAN		159					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCAGCCCCATCGTGGCCCAGT	0.557000													35	82					0	0	0.004878	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564916	47564916	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:47564916G>A	ENST00000334194.3	+	8	1030	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	343						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						ATGCCGAGATGAAATCAGGGA	0.438000													18	14					0	0	0.006122	0	0
OR52M1	119772	broad.mit.edu	37	11	4567352	4567352	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4567352G>A	ENST00000360213.1	+	1	932	c.932G>A	c.(931-933)aGg>aAg	p.R311K		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	311					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)		CAAATACCAAGGATAGAAATG	0.418000													7	26					0	0	0.001984	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638273	46638273	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:46638273G>A	ENST00000303383.3	-	6	1056	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	264										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTTCTCAGATTTAAAAAT	0.383000													32	76					0	0	0.002096	0	0
SMARCA2	6595	broad.mit.edu	37	9	2029165	2029165	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:2029165C>T	ENST00000382203.1	+	2	352	c.143C>T	c.(142-144)cCt>cTt	p.P48L	SMARCA2_ENST00000382194.1_Missense_Mutation_p.P48L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P48L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P48L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	48					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGGCCAAGTCCTGGACCTCCA	0.592000													5	8					0	0	0.000602	0	0
CASC3	22794	broad.mit.edu	37	17	38323820	38323820	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38323820C>T	ENST00000264645.7	+	9	1832	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	536	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCCCCGCCCCTCCAGTGCA	0.502000													9	50					0	0	0.004990	0	0
PLCD4	84812	broad.mit.edu	37	2	219500990	219500990	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:219500990C>A	ENST00000450993.2	+	15	2396	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K	PLCD4_ENST00000432688.1_Missense_Mutation_p.T718K|PLCD4_ENST00000417849.1_Missense_Mutation_p.T686K	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	686	C2.				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)		TGGGGGCAGACACTATGTTTC	0.433000													55	150					4.96213e-28	1.0822e-27	0.003610	1	0
SPZ1	84654	broad.mit.edu	37	5	79616895	79616895	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:79616895C>T	ENST00000296739.4	+	1	1106	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATAATGGAGTCGGTTTCCAAA	0.413000													32	45					0	0	0.001512	0	0
TPRN	286262	broad.mit.edu	37	9	140094258	140094258	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:140094258G>A	ENST00000409012.4	-	1	992	c.906C>T	c.(904-906)gcC>gcT	p.A302A	TPRN_ENST00000321773.2_Silent_p.A241A|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	302					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CTGGCTTGGGGGCCGGCCGTA	0.652000													3	4					0	0	0.000602	0	0
PLD2	5338	broad.mit.edu	37	17	4711685	4711685	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:4711685C>T	ENST00000263088.6	+	4	488	c.357C>T	c.(355-357)gtC>gtT	p.V119V	PLD2_ENST00000572940.1_Silent_p.V119V	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	119	PX.				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)	GACACAAAGTCTTGATGAGTC	0.567000													49	148					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179742822	179742822	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179742822G>A	ENST00000420890.2	-	12	1885	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	CCDC141_ENST00000295723.5_Missense_Mutation_p.P15S|CCDC141_ENST00000409284.1_Missense_Mutation_p.P590S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	15							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)			TCCTTCTGAGGGATTTCGGTT	0.348000													43	19					0	0	0.003610	0	0
EZH2	2146	broad.mit.edu	37	7	148544380	148544380	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:148544380G>A	ENST00000320356.2	-	2	132	c.11C>T	c.(10-12)aCt>aTt	p.T4I	EZH2_ENST00000478654.1_Missense_Mutation_p.T4I|EZH2_ENST00000476773.1_Missense_Mutation_p.T4I|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000483967.1_Missense_Mutation_p.T4I|EZH2_ENST00000541220.1_Missense_Mutation_p.T4I|EZH2_ENST00000350995.2_Missense_Mutation_p.T4I|EZH2_ENST00000460911.1_Missense_Mutation_p.T4I	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	4	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCTTCCCAGTCTGGCCCAT	0.418000			Mis		DLBCL								112	178					0	0	0.003610	0	0
TBC1D2	55357	broad.mit.edu	37	9	101006406	101006406	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:101006406C>T	ENST00000375066.5	-	3	608	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	TBC1D2_ENST00000375064.1_Missense_Mutation_p.E173K|TBC1D2_ENST00000342112.5_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	173						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCTGCCTCTTCTTGCCCTGGG	0.572000													14	2					0	0	0.004990	0	0
SDC2	6383	broad.mit.edu	37	8	97614757	97614757	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:97614757G>A	ENST00000302190.4	+	3	1227		c.e3+1		SDC2_ENST00000522911.1_Splice_Site|SDC2_ENST00000518385.1_Splice_Site|SDC2_ENST00000519914.1_Splice_Site	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2							integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TCAGACAAAGGTGCGTTCTAT	0.383000													10	57					0	0	0.000978	0	0
NLRP2	55655	broad.mit.edu	37	19	55494253	55494253	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:55494253C>T	ENST00000543010.1	+	6	1330	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	NLRP2_ENST00000339757.7_Missense_Mutation_p.S374L|NLRP2_ENST00000427260.2_Missense_Mutation_p.S373L|NLRP2_ENST00000537859.1_Missense_Mutation_p.S374L|NLRP2_ENST00000538819.1_Missense_Mutation_p.S372L|NLRP2_ENST00000263437.6_Missense_Mutation_p.S393L|NLRP2_ENST00000391721.4_Missense_Mutation_p.S372L|NLRP2_ENST00000448584.2_Missense_Mutation_p.S396L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	396	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGCTGGGCTCGGCCCCCGCG	0.637000													10	53					0	0	0.001368	0	0
OR2M3	127062	broad.mit.edu	37	1	248366997	248366997	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248366997C>T	ENST00000456743.1	+	1	666	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210					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)			GATTGTTTTCCCTGTTGCAAT	0.423000													75	330					0	0	0.003610	0	0
NRG2	9542	broad.mit.edu	37	5	139231201	139231201	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:139231201G>A	ENST00000541337.1	-	7	1791	c.1562C>T	c.(1561-1563)cCa>cTa	p.P521L	NRG2_ENST00000545385.1_Missense_Mutation_p.P589L|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Missense_Mutation_p.P587L|NRG2_ENST00000289422.7_Missense_Mutation_p.P595L|NRG2_ENST00000340391.3_Missense_Mutation_p.P384L|NRG2_ENST00000358522.3_Missense_Mutation_p.P589L|NRG2_ENST00000289409.4_Missense_Mutation_p.P581L	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	587					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGTGTGGGGAGTCGCG	0.667000													13	20					0	0	0.004007	0	0
PODXL2	50512	broad.mit.edu	37	3	127379360	127379360	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:127379360G>A	ENST00000342480.6	+	3	528	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	163	Glu-rich.				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGagaggaggaagaagagg	0.552000													17	29					0	0	0.004007	0	0
CHRNA10	57053	broad.mit.edu	37	11	3690520	3690520	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:3690520A>G	ENST00000250699.2	-	3	339	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	CHRNA10_ENST00000493827.2_5'UTR|CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	90					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CATCGTAGGTAGGCATCTGTC	0.552000													40	34					0	0	0.003214	0	0
RAD54B	25788	broad.mit.edu	37	8	95405993	95405993	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:95405993G>A	ENST00000336148.5	-	9	1620	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.S499*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGGTTCTCTCGATAAAATGAT	0.299000								Direct reversal of damage;Homologous recombination					102	140					0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56419195	56419195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56419195C>T	ENST00000588751.1	-	7	2434	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T	NLRP13_ENST00000342929.3_Missense_Mutation_p.A804T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	804							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)		TGTCTCAAAGCTTTAAGAATC	0.493000													60	53					0	0	0.003610	0	0
EHD2	30846	broad.mit.edu	37	19	48229100	48229100	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:48229100C>T	ENST00000263277.3	+	4	785	c.534C>T	c.(532-534)ttC>ttT	p.F178F	EHD2_ENST00000538399.1_Silent_p.F42F|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	178					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGCGCTGGTTCGCGGAGCGCG	0.637000													13	38					0	0	0.004007	0	0
STXBP5	134957	broad.mit.edu	37	6	147525714	147525714	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:147525714G>A	ENST00000367481.3	+	1	154	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	STXBP5_ENST00000546097.1_Missense_Mutation_p.G16S|STXBP5_ENST00000367480.3_Missense_Mutation_p.G16S|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000321680.6_Missense_Mutation_p.G16S	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	16					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCTGACCGCCGGCTCGTCCTC	0.677000													20	3					0	0	0.001523	0	0
OR5H14	403273	broad.mit.edu	37	3	97868839	97868839	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97868839G>A	ENST00000437310.1	+	1	670	c.610G>A	c.(610-612)Ggt>Agt	p.G204S		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATTTTTGCAGGTTCAATTCA	0.303000													14	39					0	0	0.001855	0	0
EZH2	2146	broad.mit.edu	37	7	148544381	148544381	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:148544381T>G	ENST00000320356.2	-	2	131	c.10A>C	c.(10-12)Act>Cct	p.T4P	EZH2_ENST00000478654.1_Missense_Mutation_p.T4P|EZH2_ENST00000476773.1_Missense_Mutation_p.T4P|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000483967.1_Missense_Mutation_p.T4P|EZH2_ENST00000541220.1_Missense_Mutation_p.T4P|EZH2_ENST00000350995.2_Missense_Mutation_p.T4P|EZH2_ENST00000460911.1_Missense_Mutation_p.T4P	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	4	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTCTTCCCAGTCTGGCCCATG	0.423000			Mis		DLBCL								112	176					0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	176011480	176011480	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:176011480G>A	ENST00000510636.1	+	19	2472	c.2198G>A	c.(2197-2199)aGc>aAc	p.S733N	CDHR2_ENST00000261944.5_Missense_Mutation_p.S733N|CDHR2_ENST00000506348.1_Missense_Mutation_p.S733N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	733	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCAGCTTCAGCCTGTCGGGG	0.647000													30	108					0	0	0.002445	0	0
SCN11A	11280	broad.mit.edu	37	3	38951679	38951679	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:38951679C>T	ENST00000302328.3	-	8	1177	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E327K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E327K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E327K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	327					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)	TGCTTACATTCATATTGTATG	0.383000													9	38					0	0	0.004482	0	0
CNGA2	1260	broad.mit.edu	37	X	150912737	150912737	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:150912737G>A	ENST00000329903.4	+	6	1795	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	588					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAGAACGAAGTGGCAAC	0.547000													34	7					0	0	0.002836	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840794	1840794	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:1840794C>G	ENST00000331238.5	-	2	340	c.322G>C	c.(322-324)Ggc>Cgc	p.G108R		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	108					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CGGTTGTCGCCGAGGTCCAGC	0.637000													14	37					0	0	0.004007	0	0
CCDC101	112869	broad.mit.edu	37	16	28600457	28600457	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:28600457C>T	ENST00000317058.3	+	5	448	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	87					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TCGCGGAAATCAAGTCTCTGT	0.542000													49	103					0	0	0.003610	0	0
UNC5D	137970	broad.mit.edu	37	8	35402037	35402037	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:35402037C>T	ENST00000453357.2	+	1	128	c.72C>T	c.(70-72)tcC>tcT	p.S24S	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000416672.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					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)		TGGACTTTTCCTCCCAAACTT	0.403000													25	80					0	0	0.004656	0	0
LRP1B	53353	broad.mit.edu	37	2	141092026	141092026	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:141092026G>A	ENST00000389484.3	-	79	13190	c.12219C>T	c.(12217-12219)ccC>ccT	p.P4073P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4073					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)		TCATACCTGTGGGTCTCTGTA	0.363000										TSP Lung(27;0.18)			22	26					0	0	0.002780	0	0
WNT2B	7482	broad.mit.edu	37	1	113062964	113062964	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:113062964A>G	ENST00000369684.4	+	5	1494	c.1009A>G	c.(1009-1011)Atc>Gtc	p.I337V	WNT2B_ENST00000369686.4_Missense_Mutation_p.I318V|WNT2B_ENST00000256640.5_Missense_Mutation_p.I245V	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	337					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGTTGTGAAATCATGTGCTG	0.532000													8	24					0	0	0.000443	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933534	209933534	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:209933534G>A	ENST00000367024.1	+	3	666	c.150G>A	c.(148-150)agG>agA	p.R50R	TRAF3IP3_ENST00000400959.3_Silent_p.R50R|TRAF3IP3_ENST00000010338.4_Silent_p.R50R|TRAF3IP3_ENST00000367025.3_Silent_p.R50R|TRAF3IP3_ENST00000367026.3_Silent_p.R50R			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	50						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGACGCTGAGGATCCAACAGA	0.602000													10	47					0	0	0.000443	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:70079874G>A	ENST00000446444.1	-	1	575	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	189					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						AGGAAGGAGGGAAAATCAGTC	0.403000													36	55					0	0	0.003271	0	0
C2orf78	388960	broad.mit.edu	37	2	74043731	74043731	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:74043731C>T	ENST00000409561.1	+	3	2502	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	794										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						gcaacccaacccagttcagcc	0.527000													10	3					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179615426	179615426	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179615426T>C	ENST00000360870.5	-	46	11923	c.11701A>G	c.(11701-11703)Aaa>Gaa	p.K3901E	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9723							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)			TCATCCTTTTTTATTCTTTCA	0.338000													16	38					0	0	0.004990	0	0
SPATA22	84690	broad.mit.edu	37	17	3372601	3372601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:3372601C>T	ENST00000573128.1	-	2	502	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	SPATA22_ENST00000355380.4_Missense_Mutation_p.E7K|SPATA22_ENST00000268981.5_Missense_Mutation_p.E7K|SPATA22_ENST00000572969.1_Missense_Mutation_p.E7K|SPATA22_ENST00000575375.1_Missense_Mutation_p.E7K|SPATA22_ENST00000397168.3_Missense_Mutation_p.E7K|SPATA22_ENST00000541913.1_Missense_Mutation_p.E7K			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	7										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GCTGAATTTTCATTTAGGCTT	0.289000													4	9					0	0	0.001984	0	0
TTYH2	94015	broad.mit.edu	37	17	72248444	72248444	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:72248444C>T	ENST00000441391.2	+	5	1437	c.225C>T	c.(223-225)tcC>tcT	p.S75S	TTYH2_ENST00000529107.1_Silent_p.S375S|TTYH2_ENST00000269346.4_Silent_p.S396S	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	396						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCCTCTTCTCCTTCCTGGCCG	0.612000													15	33					0	0	0.004007	0	0
HHIP	64399	broad.mit.edu	37	4	145627713	145627713	+	Missense_Mutation	SNP	G	G	A	rs146905204		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:145627713G>A	ENST00000296575.3	+	5	1517	c.862G>A	c.(862-864)Gca>Aca	p.A288T		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	288						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCTAAGCCTCGCATTCCATCC	0.413000													6	14					0	0	0.001984	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279362	105279362	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:105279362G>A	ENST00000327674.4	-	2	972	c.637C>T	c.(637-639)Cct>Tct	p.P213S	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P213S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	213					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGATCAAAAGGATTTGCCCAC	0.388000													36	5					0	0	0.001706	0	0
FGA	2243	broad.mit.edu	37	4	155507658	155507658	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:155507658C>T	ENST00000302053.3	-	5	1001	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	FGA_ENST00000403106.3_Missense_Mutation_p.R308Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	308					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R308Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCAGGGTTTCGGTTTCCAGT	0.572000													66	29					0	0	0.003610	0	0
KMT2A	4297	broad.mit.edu	37	11	118359392	118359392	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:118359392C>T	ENST00000534358.1	+	11	4419	c.4396C>T	c.(4396-4398)Cct>Tct	p.P1466S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P1428S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P1466S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAACGAGCGCCCTCTGGAGGA	0.433000													37	38					0	0	0.001485	0	0
SEPT3	55964	broad.mit.edu	37	22	42383746	42383746	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:42383746C>T	ENST00000396425.3	+	5	665	c.534C>T	c.(532-534)atC>atT	p.I178I	SEPT3_ENST00000396426.3_Silent_p.I178I|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Silent_p.I114I|SEPT3_ENST00000291236.11_Silent_p.I114I	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	178					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						TTTACTTCATCTCTCCCACAG	0.502000													50	1					0	0	0.003610	0	0
ATP10B	23120	broad.mit.edu	37	5	160063227	160063227	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:160063227C>T	ENST00000327245.5	-	11	1936	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	364					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTAGAAGCCCCCAAGGGCA	0.527000													40	22					0	0	0.001706	0	0
CLTCL1	8218	broad.mit.edu	37	22	19220999	19220999	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:19220999C>T	ENST00000263200.10	-	8	1386	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	CLTCL1_ENST00000427926.1_Silent_p.L438L|CLTCL1_ENST00000353891.5_Silent_p.L438L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	438	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCTGAAGAACCAGATGGCAAA	0.512000			T	?	ALCL								7	16					0	0	0.001984	0	0
ERBB4	2066	broad.mit.edu	37	2	212543876	212543876	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:212543876G>A	ENST00000342788.4	-	13	1833	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	ERBB4_ENST00000436443.1_Missense_Mutation_p.S508F|ERBB4_ENST00000402597.1_Missense_Mutation_p.S508F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	508	Cys-rich.				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)		GCCATCACTGGAACACAGATG	0.473000										TSP Lung(8;0.080)			31	23					0	0	0.003755	0	0
KLK7	5650	broad.mit.edu	37	19	51480889	51480889	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:51480889C>T	ENST00000391807.1	-	6	766	c.665G>A	c.(664-666)gGa>gAa	p.G222E	KLK7_ENST00000595820.1_Missense_Mutation_p.G222E|KLK7_ENST00000597707.1_Missense_Mutation_p.G150E|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Missense_Mutation_p.G109E	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	222	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGAAAGTTCCCCAGGACAC	0.522000													44	50					0	0	0.001951	0	0
GABRB2	2561	broad.mit.edu	37	5	160757971	160757971	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:160757971C>T	ENST00000274547.2	-	9	1213	c.996G>A	c.(994-996)ggG>ggA	p.G332G	GABRB2_ENST00000393959.1_Silent_p.G332G|GABRB2_ENST00000517901.1_Silent_p.G269G|GABRB2_ENST00000517547.1_Silent_p.G172G|GABRB2_ENST00000353437.6_Silent_p.G332G|GABRB2_ENST00000520240.1_Silent_p.G332G	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	332					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGGCCCCCTCCCAAAGAAGA	0.507000													33	86					0	0	0.002096	0	0
FAM65C	140876	broad.mit.edu	37	20	49224959	49224959	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:49224959C>T	ENST00000327979.2	-	11	1322	c.911G>A	c.(910-912)gGt>gAt	p.G304D	FAM65C_ENST00000045083.2_Missense_Mutation_p.G304D|FAM65C_ENST00000535356.1_Missense_Mutation_p.G308D			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	304										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGATGGTACCCAACTCCGT	0.667000													38	50					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179599320	179599320	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179599320G>A	ENST00000589042.1	-	52	15455	c.15231C>T	c.(15229-15231)ttC>ttT	p.F5077F	TTN_ENST00000591111.1_Silent_p.F4760F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F3833F|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4760	Ig-like 31.						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)			GAGTTTTGATGAAAGAAGGAG	0.378000													67	39					0	0	0.003610	0	0
SHANK2	22941	broad.mit.edu	37	11	70331436	70331436	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:70331436G>A	ENST00000338508.4	-	32	4964	c.4965C>T	c.(4963-4965)tcC>tcT	p.S1655S	SHANK2_ENST00000423696.2_Silent_p.S1275S|SHANK2_ENST00000409161.1_Silent_p.S1058S|SHANK2_ENST00000449833.2_Silent_p.S1059S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1275					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGAGGCTGGCGGACTTGGCTC	0.562000													27	35					0	0	0.001512	0	0
TLR7	51284	broad.mit.edu	37	X	12905377	12905377	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:12905377G>A	ENST00000380659.3	+	3	1889	c.1750G>A	c.(1750-1752)Gga>Aga	p.G584R		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	584					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)	TCAATCAGAAGGAATTACTCA	0.398000													59	10					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104033936	104033936	+	Silent	SNP	C	C	T	rs144975292		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:104033936C>T	ENST00000388887.2	+	9	1146	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	314					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	p.F314F(1)		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						ACCAGAATTTCGTACCTGGAG	0.448000													20	54					0	0	0.002299	0	0
PCSK1	5122	broad.mit.edu	37	5	95735892	95735892	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:95735892T>G	ENST00000311106.3	-	10	1434		c.e10-2		PCSK1_ENST00000508626.1_Splice_Site|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Splice_Site	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1						cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATTTGGGCTGGAGGGGAAG	0.478000													21	56					0	0	0.001523	0	0
FAIM3	9214	broad.mit.edu	37	1	207086345	207086345	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:207086345G>A	ENST00000367091.3	-	3	559	c.416C>T	c.(415-417)cCa>cTa	p.P139L	FAIM3_ENST00000442471.2_Missense_Mutation_p.P27L|FAIM3_ENST00000420007.2_Missense_Mutation_p.P139L|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	139					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AAACCATTTTGGAGTCTCAGG	0.488000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	108	413					0	0	0.003610	0	0
USHBP1	83878	broad.mit.edu	37	19	17374903	17374903	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:17374903G>A	ENST00000252597.3	-	3	284	c.111C>T	c.(109-111)agC>agT	p.S37S	USHBP1_ENST00000598570.1_Intron|USHBP1_ENST00000431146.2_Intron	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	37							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGGGCTTGGAGCTCCCACTGG	0.657000													5	27					0	0	0.001168	0	0
TRPV6	55503	broad.mit.edu	37	7	142575478	142575478	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:142575478A>C	ENST00000359396.3	-	3	520	c.275T>G	c.(274-276)cTg>cGg	p.L92R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	92					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCGGCCTCCAGGTTGTCATA	0.587000													29	120					0	0	0.001512	0	0
RPS18	6222	broad.mit.edu	37	6	33243594	33243594	+	Silent	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:33243594T>G	ENST00000439602.2	+	3	233	c.123T>G	c.(121-123)gcT>gcG	p.A41A	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_5'UTR			P62269	RS18_HUMAN	ribosomal protein S18	41					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						GAAGATATGCTCATGTGGTGT	0.488000													51	175					0	0	0.003610	0	0
DNAI2	64446	broad.mit.edu	37	17	72305472	72305472	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:72305472C>T	ENST00000579490.1	+	9	1598	c.1463C>T	c.(1462-1464)aCc>aTc	p.T488I	DNAI2_ENST00000582036.1_Missense_Mutation_p.T431I|DNAI2_ENST00000446837.2_Missense_Mutation_p.T431I|DNAI2_ENST00000307504.5_Missense_Mutation_p.T288I|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000311014.6_Missense_Mutation_p.T431I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	431					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATGGACGGAACCCTGGATATC	0.582000									Kartagener syndrome				11	28					0	0	0.000673	0	0
FAM49B	51571	broad.mit.edu	37	8	130866549	130866549	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:130866549C>T	ENST00000519824.2	-	7	752	c.479G>A	c.(478-480)aGa>aAa	p.R160K	FAM49B_ENST00000522941.1_Missense_Mutation_p.R14K|FAM49B_ENST00000522250.1_Missense_Mutation_p.R14K|FAM49B_ENST00000517654.1_Missense_Mutation_p.R160K|FAM49B_ENST00000519540.1_Missense_Mutation_p.R160K|FAM49B_ENST00000519110.1_Missense_Mutation_p.R160K|FAM49B_ENST00000401979.2_Missense_Mutation_p.R160K|FAM49B_ENST00000523509.1_Missense_Mutation_p.R160K|FAM49B_ENST00000522746.1_Missense_Mutation_p.R160K	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	160										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CAATGTTCTTCTATAATAGCT	0.338000													17	81					0	0	0.000958	0	0
AP1M1	8907	broad.mit.edu	37	19	16344396	16344396	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:16344396C>T	ENST00000291439.3	+	10	1589	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	AP1M1_ENST00000590756.1_Silent_p.F308F|AP1M1_ENST00000541844.1_Silent_p.F308F|AP1M1_ENST00000444449.2_Silent_p.F392F|AP1M1_ENST00000429941.2_Silent_p.F327F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	380	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GTGTCAAGTTCGAGATCCCTT	0.627000													5	25					0	0	0.001984	0	0
SORL1	6653	broad.mit.edu	37	11	121421348	121421348	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:121421348G>A	ENST00000260197.7	+	16	2364	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	745					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGCGCGACTGGAAGGAGAGC	0.517000													18	29					0	0	0.000958	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248915	36248915	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:36248915G>A	ENST00000315571.5	+	5	756	c.735G>A	c.(733-735)caG>caA	p.Q245Q	LDLRAD3_ENST00000528989.1_Silent_p.Q196Q|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Silent_p.Q235Q	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	245						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TGGCCAGCCAGGCGGAGCAGA	0.612000													20	66					0	0	0.003954	0	0
NOVA1	4857	broad.mit.edu	37	14	26941528	26941528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:26941528G>A	ENST00000539517.2	-	4	834	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	NOVA1_ENST00000547619.1_Nonsense_Mutation_p.Q173*|NOVA1_ENST00000267422.7_Nonsense_Mutation_p.Q51*|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000344429.5_Nonsense_Mutation_p.Q173*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	176					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TACTGTACCTGATTAGCTCTG	0.448000													18	4					0	0	0.001523	0	0
MYH1	4619	broad.mit.edu	37	17	10397913	10397913	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:10397913C>T	ENST00000226207.5	-	38	5638	c.5544G>A	c.(5542-5544)gaG>gaA	p.E1848E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1848						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						TCACTTTTCTCTCATGTTTGC	0.388000													51	44					0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10921986	10921986	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:10921986C>T	ENST00000298232.7	-	17	1350	c.983G>A	c.(982-984)gGa>gAa	p.G328E	TPTE_ENST00000342420.5_Missense_Mutation_p.G308E|TPTE_ENST00000361285.4_Missense_Mutation_p.G346E|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	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)		AACCATAGTTCCTGTTCTATC	0.328000													27	67					0	0	0.001786	0	0
NRK	203447	broad.mit.edu	37	X	105183928	105183928	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:105183928G>A	ENST00000428173.2	+	23	4168	c.3865G>A	c.(3865-3867)Gat>Aat	p.D1289N	NRK_ENST00000243300.9_Missense_Mutation_p.D1288N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1288	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTGAATAATGATCCAGAAAG	0.373000										HNSCC(51;0.14)			3	0					0	0	0.000248	0	0
GPR98	84059	broad.mit.edu	37	5	90016003	90016003	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:90016003C>T	ENST00000405460.2	+	44	9682	c.9586C>T	c.(9586-9588)Cct>Tct	p.P3196S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3196					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)		AAACCAGGCCCCTTTGGGGCT	0.378000													14	37					0	0	0.001855	0	0
THBS1	7057	broad.mit.edu	37	15	39876278	39876278	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:39876278G>A	ENST00000260356.5	+	5	958	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	265					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAAGACAAAGGACTTGCAAGC	0.557000													24	15					0	0	0.002780	0	0
MARCH2	51257	broad.mit.edu	37	19	8495718	8495718	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:8495718C>T	ENST00000602117.1	+	4	1004	c.549C>T	c.(547-549)atC>atT	p.I183I	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Silent_p.I183I|MARCH2_ENST00000215555.2_Silent_p.I183I|MARCH2_ENST00000381035.4_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	183					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCCTCACCATCGCCCTCTTCA	0.662000													19	19					0	0	0.001216	0	0
ZNF835	90485	broad.mit.edu	37	19	57175274	57175274	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:57175274G>A	ENST00000537055.2	-	2	1524	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCGAGCGAGGAGCCCTGGC	0.657000													10	53					0	0	0.000443	0	0
RGPD3	653489	broad.mit.edu	37	2	107049690	107049690	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:107049690C>T	ENST00000409886.3	-	16	2344	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E753K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	753					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTTCGAGTTCCTGCATGACT	0.368000													34	223					0	0	0.001485	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171528	150171528	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:150171528G>A	ENST00000307271.3	+	4	1685	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	371						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)		AGATTTAGGGGATCAGGATCT	0.388000													70	115					0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31709935	31709935	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:31709935A>G	ENST00000261592.5	-	2	611	c.314T>C	c.(313-315)gTt>gCt	p.V105A	NOL4_ENST00000538587.1_Missense_Mutation_p.V31A|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.V105A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	105						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAAATCTTCAACCACAGCTAC	0.388000													30	41					0	0	0.001061	0	0
LMOD3	56203	broad.mit.edu	37	3	69171496	69171496	+	Silent	SNP	G	G	A	rs141377610	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:69171496G>A	ENST00000420581.2	-	1	221	c.42C>T	c.(40-42)ctC>ctT	p.L14L	LMOD3_ENST00000489031.1_Silent_p.L14L|LMOD3_ENST00000475434.1_Silent_p.L14L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	14						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTCCTCATCGAGAAGTTCTT	0.363000													4	15					0	0	0.000248	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147871	82147871	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:82147871G>A	ENST00000550584.2	-	2	425	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	PPFIA2_ENST00000333447.7_Missense_Mutation_p.R44C|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R44C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R44C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R44C|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R44C	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	303								p.R44S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTAGAAGACGATCCCTTTCA	0.527000													5	11					0	0	0.001168	0	0
ZFP2	80108	broad.mit.edu	37	5	178358720	178358720	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:178358720G>A	ENST00000361362.2	+	5	936	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	ZFP2_ENST00000520301.1_Missense_Mutation_p.G136R|ZFP2_ENST00000523286.1_Missense_Mutation_p.G136R|ZFP2_ENST00000503510.2_Missense_Mutation_p.G136R	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TAATGTATGTGGGAAACACTT	0.403000													12	33					0	0	0.001368	0	0
EPHA7	2045	broad.mit.edu	37	6	94068038	94068038	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:94068038G>A	ENST00000369303.4	-	4	1108	c.924C>T	c.(922-924)tcC>tcT	p.S308S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	308	Cys-rich.					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)		ATTCACATCTGGAGGAGCCTT	0.463000													49	10					0	0	0.003610	0	0
C9orf171	389799	broad.mit.edu	37	9	135447805	135447805	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:135447805G>A	ENST00000343036.2	+	7	919	c.871G>A	c.(871-873)Gag>Aag	p.E291K	C9orf171_ENST00000393216.2_Missense_Mutation_p.E255K	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	291										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTTCCCCACGGAGGCCGATCG	0.627000													42	7					0	0	0.002522	0	0
ADCY8	114	broad.mit.edu	37	8	131896897	131896897	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:131896897G>A	ENST00000286355.5	-	8	4114	c.2022C>T	c.(2020-2022)acC>acT	p.T674T	ADCY8_ENST00000377928.3_Silent_p.T674T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	674					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCAAGTCGATGGTATGTTCTA	0.443000										HNSCC(32;0.087)			81	84					0	0	0.003610	0	0
TMEM106B	54664	broad.mit.edu	37	7	12269310	12269310	+	Silent	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:12269310A>T	ENST00000396667.2	+	6	769	c.447A>T	c.(445-447)acA>acT	p.T149T	TMEM106B_ENST00000396668.3_Silent_p.T149T	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	149						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTAGAACACACTAAATATAA	0.289000													18	41					0	0	0.004990	0	0
ALG8	79053	broad.mit.edu	37	11	77824955	77824955	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:77824955A>G	ENST00000376156.3	-	7	757	c.754T>C	c.(754-756)Tca>Cca	p.S252P	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Missense_Mutation_p.S252P	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	252					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GGACCCAATGAAAGAGCAGAA	0.358000													5	12					0	0	0.000602	0	0
C3	718	broad.mit.edu	37	19	6711045	6711045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6711045G>A	ENST00000245907.6	-	12	1524	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	478					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGTCCATTCGCAGGAGGAAG	0.602000													35	194					0	0	0.001485	0	0
FMN2	56776	broad.mit.edu	37	1	240371813	240371813	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:240371813C>T	ENST00000319653.9	+	5	3931	c.3701C>T	c.(3700-3702)cCg>cTg	p.P1234L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1234	FH1.|Pro-rich.				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)			GGAATCCCACCGCCCCCTCTG	0.602000													32	18					0	0	0.002445	0	0
OR52D1	390066	broad.mit.edu	37	11	5510270	5510270	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:5510270G>A	ENST00000322641.5	+	1	356	c.334G>A	c.(334-336)Gct>Act	p.A112T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTATCTATGCTCTGGAGTC	0.473000													32	69					0	0	0.002836	0	0
GABRE	2564	broad.mit.edu	37	X	151123253	151123253	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:151123253C>T	ENST00000370328.3	-	9	1494	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	481					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTAGTTATCCAGGCGGTAG	0.507000													23	2					0	0	0.002780	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:108672495C>T	ENST00000261047.3	-	1	247	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000													69	48					0	0	0.003610	0	0
CAPN12	147968	broad.mit.edu	37	19	39229232	39229232	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:39229232G>A	ENST00000328867.4	-	6	1094	c.786C>T	c.(784-786)tcC>tcT	p.S262S	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Silent_p.S113S	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	262	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)			TGCCCGTGATGGAATACGCGT	0.627000													13	51					0	0	0.002450	0	0
LINC00477	144360	broad.mit.edu	37	12	24736954	24736954	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:24736954G>A	ENST00000483544.1	-	0	148					NR_029451.2																						GCTCTGCAAAGGAAGAAAAAG	0.488000													26	59					0	0	0.001061	0	0
IKZF3	22806	broad.mit.edu	37	17	37944556	37944556	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:37944556C>T	ENST00000346872.3	-	6	725	c.664G>A	c.(664-666)Gag>Aag	p.E222K	IKZF3_ENST00000535189.1_Missense_Mutation_p.E188K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E166K|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.E79K|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.E135K|IKZF3_ENST00000351680.3_Intron|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.E222K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	222					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCAGCGCTCCTTGTGCTCC	0.498000													12	23					0	0	0.000978	0	0
IMPG2	50939	broad.mit.edu	37	3	100949808	100949808	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:100949808G>A	ENST00000193391.7	-	16	3602	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1139	Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TACCTGAAGGGACTCTCTCTT	0.408000													22	43					0	0	0.001882	0	0
ZNF451	26036	broad.mit.edu	37	6	56997896	56997896	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:56997896C>T	ENST00000370706.4	+	6	725	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H161Y|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H161Y	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGAGGAGGCCACACGTGGGT	0.388000													25	62					0	0	0.003954	0	0
DUSP15	128853	broad.mit.edu	37	20	30436336	30436336	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:30436336G>A	ENST00000278979.3	-	10	835	c.759C>T	c.(757-759)tcC>tcT	p.S253S				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	253						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTAGAGTGCAGGACGAGCTCC	0.632000													7	15					0	0	0.003080	0	0
CEP128	145508	broad.mit.edu	37	14	81046764	81046764	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:81046764A>G	ENST00000555265.1	-	20	3185	c.2810T>C	c.(2809-2811)cTa>cCa	p.L937P	CEP128_ENST00000281129.3_Missense_Mutation_p.L937P			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	937						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTCTTCCAGTAGATCTGTAAT	0.338000													26	7					0	0	0.001271	0	0
MTUS2	23281	broad.mit.edu	37	13	29600817	29600817	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:29600817C>T	ENST00000431530.3	+	1	2070	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	661	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTGGACGCCTCGCTGGTTCCA	0.587000													9	29					0	0	0.004482	0	0
C4orf22	255119	broad.mit.edu	37	4	81504291	81504291	+	Missense_Mutation	SNP	C	C	T	rs142731425	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:81504291C>T	ENST00000358105.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353000													14	32					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179595331	179595331	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179595331C>T	ENST00000589042.1	-	61	18153	c.17929G>A	c.(17929-17931)Gaa>Aaa	p.E5977K	TTN_ENST00000591111.1_Missense_Mutation_p.E5660K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4733K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5660	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTGATTTCCAAGAAGGCA	0.448000													68	49					0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123845215	123845215	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:123845215G>A	ENST00000369005.1	+	4	3540	c.3200G>A	c.(3199-3201)aGc>aAc	p.S1067N	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S1067N|TACC2_ENST00000334433.3_Missense_Mutation_p.S1067N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S1067N|TACC2_ENST00000515273.1_Missense_Mutation_p.S1067N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1067						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCGCCCGCCAGCCCCGGAGTC	0.637000													29	5					0	0	0.001061	0	0
DCC	1630	broad.mit.edu	37	18	50705338	50705338	+	Silent	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:50705338A>G	ENST00000442544.2	+	9	2041	c.1425A>G	c.(1423-1425)cgA>cgG	p.R475R	DCC_ENST00000581580.1_Silent_p.R130R|DCC_ENST00000412726.1_Silent_p.R323R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	475	Fibronectin type-III 1.				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)		TCAGGGAACGAGCATTGAATA	0.438000													32	44					0	0	0.002836	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566762	45566762	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:45566762G>A	ENST00000588982.1	-	3	1218	c.717C>T	c.(715-717)gcC>gcT	p.A239A	ZBTB7C_ENST00000590800.1_Silent_p.A239A|ZBTB7C_ENST00000535628.2_Silent_p.A239A|ZBTB7C_ENST00000586438.1_Silent_p.A239A|ZBTB7C_ENST00000332053.2_Silent_p.A239A			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	239						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						CGGGGATGTTGGCCTTGGGGT	0.607000													21	26					0	0	0.001523	0	0
NEB	4703	broad.mit.edu	37	2	152515621	152515621	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:152515621G>A	ENST00000397345.3	-	47	6235	c.6033C>T	c.(6031-6033)ccC>ccT	p.P2011P	NEB_ENST00000603639.1_Silent_p.P2011P|NEB_ENST00000604864.1_Silent_p.P2011P|NEB_ENST00000427231.2_Silent_p.P2011P|NEB_ENST00000409198.1_Silent_p.P2011P|NEB_ENST00000172853.10_Silent_p.P2011P	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2011					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)		AAATAATCTGGGGGATATCAG	0.378000													78	140					0	0	0.003610	0	0
PREX1	57580	broad.mit.edu	37	20	47267558	47267558	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:47267558G>A	ENST00000396220.1	-	23	2713	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	PREX1_ENST00000371941.3_Silent_p.F897F			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	897					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.F897F(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTTCTCCACGAAGACGCTGT	0.557000													9	52					0	0	0.000443	0	0
PLB1	151056	broad.mit.edu	37	2	28824165	28824165	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:28824165G>A	ENST00000422425.2	+	36	2584	c.2540G>A	c.(2539-2541)gGa>gAa	p.G847E	PLB1_ENST00000327757.5_Missense_Mutation_p.G858E	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	858	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTGCTGATCGGAGGCAGCGAT	0.443000													15	12					0	0	0.000958	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132584	59132584	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:59132584C>T	ENST00000313940.2	+	1	700	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCATGATATCCTATGGCTAT	0.423000													39	78					0	0	0.002222	0	0
CHIT1	1118	broad.mit.edu	37	1	203188902	203188902	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:203188902G>A	ENST00000367229.1	-	8	839	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.R260C|CHIT1_ENST00000255427.3_Missense_Mutation_p.R250C	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	269					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTGAAGGAGCGTCCGTAGGTA	0.617000													16	58					0	0	0.004007	0	0
BIRC7	79444	broad.mit.edu	37	20	61869824	61869824	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:61869824T>G	ENST00000217169.3	+	3	740	c.526T>G	c.(526-528)Tcc>Gcc	p.S176A	BIRC7_ENST00000342412.6_Missense_Mutation_p.S176A|BIRC7_ENST00000395306.1_Missense_Mutation_p.S89A	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	176					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCTGCTGGGCTCCTGGGTGAG	0.622000													20	26					0	0	0.000958	0	0
FLNB	2317	broad.mit.edu	37	3	58107028	58107028	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:58107028G>A	ENST00000357272.4	+	20	3089	c.2924G>A	c.(2923-2925)gGg>gAg	p.G975E	FLNB_ENST00000429972.2_Missense_Mutation_p.G975E|FLNB_ENST00000490882.1_Missense_Mutation_p.G975E|FLNB_ENST00000295956.4_Missense_Mutation_p.G975E|FLNB_ENST00000493452.1_Missense_Mutation_p.G806E|FLNB_ENST00000358537.3_Missense_Mutation_p.G975E|FLNB_ENST00000348383.5_Missense_Mutation_p.G975E|FLNB_ENST00000419752.2_Missense_Mutation_p.G806E			O75369	FLNB_HUMAN	filamin B, beta	975					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGGCCAGGGGAAGCTGGAC	0.582000													52	46					0	0	0.003610	0	0
C9orf84	158401	broad.mit.edu	37	9	114518610	114518610	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:114518610T>C	ENST00000394779.3	-	4	792	c.548A>G	c.(547-549)gAa>gGa	p.E183G	C9orf84_ENST00000374283.5_Missense_Mutation_p.E286G|C9orf84_ENST00000374287.3_Missense_Mutation_p.E222G|C9orf84_ENST00000318737.4_Missense_Mutation_p.E222G|C9orf84_ENST00000394777.4_Missense_Mutation_p.E183G	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	222										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCACCTCTTTCAAAAAGCTT	0.299000													19	11					0	0	0.002299	0	0
USP36	57602	broad.mit.edu	37	17	76803147	76803147	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:76803147G>A	ENST00000312010.6	-	14	2303	c.1979C>T	c.(1978-1980)tCt>tTt	p.S660F	USP36_ENST00000542802.2_Missense_Mutation_p.S660F|USP36_ENST00000449938.2_Missense_Mutation_p.S360F	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	660					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CACCGTCTTAGAATCTGCTCC	0.587000													36	21					0	0	0.003271	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222237	100222237	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:100222237C>T	ENST00000231461.5	-	3	623	c.313G>A	c.(313-315)Ggt>Agt	p.G105S	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G105S	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	105					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATGACATCACCAGGCTTAAAA	0.408000													28	64					0	0	0.001786	0	0
TMEM132B	114795	broad.mit.edu	37	12	125811186	125811186	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:125811186C>T	ENST00000299308.3	+	1	25	c.17C>T	c.(16-18)tCc>tTc	p.S6F	TMEM132B_ENST00000418253.2_Intron	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	6						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)		GGTGCAGCATCCAGAATGGAC	0.577000													5	16					0	0	0.001168	0	0
TEK	7010	broad.mit.edu	37	9	27206633	27206633	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:27206633G>C	ENST00000380036.4	+	15	2860	c.2418G>C	c.(2416-2418)aaG>aaC	p.K806N	TEK_ENST00000519097.1_Missense_Mutation_p.K658N|TEK_ENST00000406359.4_Missense_Mutation_p.K763N	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	806					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TAAACAGGAAGGTCAAAAACA	0.398000													10	14					0	0	0.000673	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319617	21319617	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:21319617C>T	ENST00000583088.1	+	3	1858	c.963C>T	c.(961-963)atC>atT	p.I321I	KCNJ12_ENST00000331718.5_Silent_p.I321I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCAATGAGATCCTGTGGGGTC	0.577000										Prostate(3;0.18)			17	178					0	0	0.004007	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007785	193007785	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:193007785G>A	ENST00000342358.4	-	26	3029	c.2912C>T	c.(2911-2913)cCc>cTc	p.P971L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	971					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)		CAGTAAAGGGGGAGAAAGGAG	0.418000													20	18					0	0	0.002780	0	0
FCRL5	83416	broad.mit.edu	37	1	157514161	157514161	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:157514161G>A	ENST00000361835.3	-	5	892	c.735C>T	c.(733-735)ttC>ttT	p.F245F	FCRL5_ENST00000368191.3_Silent_p.F160F|FCRL5_ENST00000356953.4_Silent_p.F245F|FCRL5_ENST00000368190.3_Silent_p.F245F|FCRL5_ENST00000368189.3_Silent_p.F245F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	245	Ig-like C2-type 2.					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)				CAGTAATCTGGAAATTCGGGG	0.522000													56	245					0	0	0.003610	0	0
OR6C65	403282	broad.mit.edu	37	12	55794584	55794584	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55794584C>T	ENST00000379665.2	+	1	371	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91F(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACAACCATTTCCTATAATGCT	0.353000													44	37					0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56424406	56424406	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56424406C>T	ENST00000588751.1	-	5	801	c.777G>A	c.(775-777)caG>caA	p.Q259Q	NLRP13_ENST00000342929.3_Silent_p.Q259Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	259	NACHT.						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)		AGAACCTTTGCTGAAAGAGAA	0.483000													63	66					0	0	0.003610	0	0
TRPM6	140803	broad.mit.edu	37	9	77377006	77377006	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:77377006G>A	ENST00000451710.3	-	26	4818	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I	TRPM6_ENST00000376864.4_Silent_p.I1527I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.I1522I|TRPM6_ENST00000361255.3_Silent_p.I1522I|TRPM6_ENST00000360774.1_Silent_p.I1527I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1527					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						GGAGAGGATTGATCCAAAAGG	0.453000													36	11					0	0	0.005524	0	0
CD93	22918	broad.mit.edu	37	20	23066300	23066300	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:23066300C>T	ENST00000246006.4	-	1	677	c.530G>A	c.(529-531)gGc>gAc	p.G177D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	177					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACACGAAGCCCTCAATGTT	0.657000													31	52					0	0	0.003755	0	0
CDH8	1006	broad.mit.edu	37	16	61891023	61891023	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:61891023C>T	ENST00000577390.1	-	4	1621	c.667_splice	c.e4+1	p.A223_splice	CDH8_ENST00000299345.6_Splice_Site_p.A223_splice|CDH8_ENST00000577730.1_Splice_Site_p.A223_splice|CDH8_ENST00000584337.1_Splice_Site_p.A223_splice	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	223	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGCCACAAACCTGTTTCAGGC	0.388000													46	30					0	0	0.003610	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570498	61570498	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:61570498A>C	ENST00000457692.1	+	9	1540	c.1207A>C	c.(1207-1209)Acc>Ccc	p.T403P	SERPINB2_ENST00000299502.4_Missense_Mutation_p.T403P	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	403					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCATAAGATAACCAACTGCAT	0.433000													43	66					0	0	0.002852	0	0
TRPC5	7224	broad.mit.edu	37	X	111090558	111090558	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:111090558G>A	ENST00000262839.2	-	6	2402	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	495					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTGAACAGGGATATGAGACG	0.483000													29	1					0	0	0.002445	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108452	64108452	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64108452C>T	ENST00000356786.5	+	3	324	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	94					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTGTGGAACCTGAACCACCT	0.662000													24	72					0	0	0.001512	0	0
PACRG	135138	broad.mit.edu	37	6	163483255	163483255	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:163483255C>T	ENST00000337019.3	+	4	589	c.365C>T	c.(364-366)cCc>cTc	p.P122L	PACRG_ENST00000366888.2_Missense_Mutation_p.P122L|PACRG_ENST00000366889.2_Missense_Mutation_p.P122L	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	122										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATGACATTTCCCTATGAGTTT	0.428000													39	10					0	0	0.005524	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868116	20868116	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:20868116C>T	ENST00000381552.1	+	6	941	c.573C>T	c.(571-573)ttC>ttT	p.F191F	SLCO1C1_ENST00000545102.1_Silent_p.F73F|SLCO1C1_ENST00000266509.2_Silent_p.F191F|SLCO1C1_ENST00000545604.1_Silent_p.F191F|SLCO1C1_ENST00000540354.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	191					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTATGTTTTCCTGGGCAATC	0.398000													45	123					0	0	0.003214	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146597	42146597	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:42146597G>T	ENST00000394237.1	+	5	1385	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	GUCA1A_ENST00000541991.1_Missense_Mutation_p.D137Y|GUCA1A_ENST00000053469.4_Missense_Mutation_p.D137Y|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D137Y			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	137	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAGTTCACCGATACAGTGTT	0.612000													24	139					3.28513e-13	7.12915e-13	0.003954	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12856002	12856002	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:12856002G>A	ENST00000332296.7	+	4	1385	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E183K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	428										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		TGTCAATTGGGAGATCTTCAC	0.572000													11	292					0	0	0.001216	0	0
LTBP1	4052	broad.mit.edu	37	2	33482440	33482440	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:33482440G>A	ENST00000404816.2	+	12	2610	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	LTBP1_ENST00000418533.2_Missense_Mutation_p.G427R|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.G427R|LTBP1_ENST00000354476.3_Missense_Mutation_p.G753R|LTBP1_ENST00000390003.4_Missense_Mutation_p.G427R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	753					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTAGGTAAAGGACCTGTATT	0.488000													21	60					0	0	0.001882	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902367	24902367	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:24902367C>T	ENST00000347898.3	+	9	1464	c.842C>T	c.(841-843)cCa>cTa	p.P281L	SLC5A11_ENST00000565769.1_Missense_Mutation_p.P217L|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P246L|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P211L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.P211L|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P217L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P246L	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	281					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ATGTCCATCCCATCCCTCTGG	0.557000													75	49					0	0	0.003610	0	0
OR51A4	401666	broad.mit.edu	37	11	4967974	4967974	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4967974G>A	ENST00000380373.2	-	1	382	c.357C>T	c.(355-357)atC>atT	p.I119I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAATGACATGATCAGGAGGA	0.438000													62	205					0	0	0.003610	0	0
TESK2	10420	broad.mit.edu	37	1	45813305	45813305	+	Silent	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:45813305G>C	ENST00000372086.3	-	7	1084	c.684C>G	c.(682-684)ctC>ctG	p.L228L	TESK2_ENST00000538496.1_Silent_p.L145L|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.L228L|TESK2_ENST00000341771.6_Silent_p.L228L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	228	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GCTCATCTCGGAGAACCTCAG	0.463000													31	111					0	0	0.005524	0	0
TACC2	10579	broad.mit.edu	37	10	123843338	123843338	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:123843338C>T	ENST00000369005.1	+	4	1663	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.S441S|TACC2_ENST00000334433.3_Silent_p.S441S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.S441S|TACC2_ENST00000515273.1_Silent_p.S441S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	441						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GATCATCATCCAGGGAATCAG	0.542000													56	15					0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56413465	56413465	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56413465C>T	ENST00000588751.1	-	9	2749	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D909N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	909							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)		ACTCCCTCGTCTCTCAGGCTG	0.552000													11	63					0	0	0.000673	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540896	133540896	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:133540896C>T	ENST00000409261.1	-	14	3861	c.3488G>A	c.(3487-3489)aGt>aAt	p.S1163N	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1163N|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1163							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACGGTGGAACTTTTCCTGAG	0.483000													23	62					0	0	0.002299	0	0
TRIM55	84675	broad.mit.edu	37	8	67062683	67062683	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:67062683G>A	ENST00000315962.4	+	7	1340	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	TRIM55_ENST00000276573.7_Missense_Mutation_p.E323K|TRIM55_ENST00000353317.5_Missense_Mutation_p.E323K|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	323	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAATACGTGAAATTGACTT	0.423000													11	46					0	0	0.003163	0	0
TNN	63923	broad.mit.edu	37	1	175086184	175086184	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:175086184C>T	ENST00000239462.4	+	10	2342	c.2229C>T	c.(2227-2229)acC>acT	p.T743T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	743	Fibronectin type-III 6.				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)		TGCGCTACACCTCTGCCAAGG	0.637000													22	102					0	0	0.003330	0	0
CAMK2B	816	broad.mit.edu	37	7	44302632	44302632	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:44302632G>A	ENST00000395749.2	-	3	268	c.192C>T	c.(190-192)atC>atT	p.I64I	CAMK2B_ENST00000457475.1_Silent_p.I64I|CAMK2B_ENST00000358707.3_Silent_p.I64I|CAMK2B_ENST00000440254.2_Silent_p.I64I|CAMK2B_ENST00000395747.2_Silent_p.I64I|CAMK2B_ENST00000346990.4_Silent_p.I64I|CAMK2B_ENST00000258682.6_Silent_p.I64I|CAMK2B_ENST00000347193.4_Silent_p.I64I|CAMK2B_ENST00000353625.4_Silent_p.I64I|CAMK2B_ENST00000350811.3_Silent_p.I64I|CAMK2B_ENST00000502837.2_5'UTR	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	64	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GAAGGCGGCAGATCCGAGCCT	0.617000													14	73					0	0	0.001216	0	0
NLRP5	126206	broad.mit.edu	37	19	56539845	56539845	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56539845C>T	ENST00000390649.3	+	7	2246	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	749						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAGATGAGTCCGCTGAGGCA	0.522000													109	155					0	0	0.003610	0	0
SCARA5	286133	broad.mit.edu	37	8	27779295	27779295	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:27779295C>T	ENST00000354914.3	-	4	1194	c.709G>A	c.(709-711)Gac>Aac	p.D237N	SCARA5_ENST00000301906.4_Missense_Mutation_p.D194N|SCARA5_ENST00000518030.1_Missense_Mutation_p.D194N|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Missense_Mutation_p.D237N	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	237					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGGGCCACGTCGTAGGACAGG	0.741000													3	1					0	0	0.000248	0	0
VGLL3	389136	broad.mit.edu	37	3	86996211	86996211	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:86996211T>G	ENST00000398399.2	-	4	1307	c.944A>C	c.(943-945)cAg>cCg	p.Q315P		NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTCTTGATGCTGTAGACCTGG	0.368000													15	35					0	0	0.002450	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067950	11067950	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:11067950C>T	ENST00000287766.4	+	10	1404	c.983C>T	c.(982-984)tCg>tTg	p.S328L	SLC6A1_ENST00000536032.1_Missense_Mutation_p.S150L	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	328					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCATCAATTCGTGCACCAGC	0.577000													38	83					0	0	0.001951	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075157	35075157	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:35075157G>A	ENST00000373913.3	+	7	1945	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	DLGAP4_ENST00000339266.5_Missense_Mutation_p.E489K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E489K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E489K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	489					cell-cell signaling	membrane	protein binding			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)				AGCCTGCAGTGAAGCGGAGTC	0.637000													6	25					0	0	0.001984	0	0
FABP1	2168	broad.mit.edu	37	2	88425770	88425770	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:88425770C>T	ENST00000393750.3	-	2	196	c.165G>A	c.(163-165)ggG>ggA	p.G55G	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.G55G			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	55					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TCACTTTGGACCCAGCGGTGA	0.537000													131	104					0	0	0.003610	0	0
LAMP5	24141	broad.mit.edu	37	20	9498814	9498814	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:9498814G>A	ENST00000246070.2	+	5	1095	c.603G>A	c.(601-603)atG>atA	p.M201I	LAMP5_ENST00000427562.2_Missense_Mutation_p.M157I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	201						integral to membrane		p.M201fs*33(1)									CGGTCACCATGATCCTGTCTG	0.498000													28	37					0	0	0.001061	0	0
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642000													5	40					0	0	0.001984	0	0
ADRBK2	157	broad.mit.edu	37	22	26110410	26110410	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:26110410C>T	ENST00000324198.5	+	18	1719	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	509	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACAAGAACTTCCCTTTGGTCA	0.398000													47	3					0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42531573	42531573	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:42531573G>A	ENST00000282030.5	+	4	2564	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	756						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)		CTAGCCAGCCGGATGTTCCAG	0.567000									Schinzel-Giedion syndrome				17	51					0	0	0.000958	0	0
CABP5	56344	broad.mit.edu	37	19	48543970	48543970	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:48543970G>C	ENST00000293255.2	-	3	260	c.130C>G	c.(130-132)Cga>Gga	p.R44G		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	44	EF-hand 1.				signal transduction	cytoplasm	calcium ion binding	p.R44*(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AACCCATCTCGGTCCTTATCG	0.502000													30	89					0	0	0.004289	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32709284	32709284	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:32709284G>A	ENST00000374940.3	+	1	166	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	22					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 plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGCCCCTGTGGAGGTGAAGA	0.488000													9	17					0	0	0.000673	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250023	37250023	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:37250023C>T	ENST00000373491.3	+	4	630	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	162						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCCCATCATCCCCCTCGTTGC	0.542000													16	55					0	0	0.000958	0	0
LRRC7	57554	broad.mit.edu	37	1	70478688	70478688	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:70478688C>T	ENST00000310961.5	+	14	1485	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F	LRRC7_ENST00000035383.5_Missense_Mutation_p.S351F|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	351						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGTCATGTCTCTACGCTCC	0.308000													83	70					0	0	0.003610	0	0
CYB5RL	606495	broad.mit.edu	37	1	54649919	54649919	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:54649919A>G	ENST00000419823.2	-	5	679	c.455T>C	c.(454-456)aTg>aCg	p.M152T	CYB5RL_ENST00000287899.8_Missense_Mutation_p.M152T|RP11-446E24.4_ENST00000311841.7_3'UTR|MRPL37_ENST00000487096.1_3'UTR|CYB5RL_ENST00000542737.1_Missense_Mutation_p.M152T|CYB5RL_ENST00000537208.1_Missense_Mutation_p.M152T|CYB5RL_ENST00000401046.3_Missense_Mutation_p.M4T|CYB5RL_ENST00000534324.1_Missense_Mutation_p.M152T	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	152	FAD-binding FR-type.						cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						ATACCGGGACATCAGCCCCAT	0.522000													11	16					0	0	0.001368	0	0
VEGFA	7422	broad.mit.edu	37	6	43745229	43745229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:43745229C>T	ENST00000372067.3	+	3	1176	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	VEGFA_ENST00000372064.4_Nonsense_Mutation_p.Q228*|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.Q228*|VEGFA_ENST00000482630.2_Nonsense_Mutation_p.Q228*|VEGFA_ENST00000523125.1_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.Q228*|VEGFA_ENST00000417285.2_Nonsense_Mutation_p.Q228*|VEGFA_ENST00000523873.1_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000230480.6_Nonsense_Mutation_p.Q20*|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000457104.2_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000518824.1_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000372077.4_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000523950.1_Nonsense_Mutation_p.Q48*|VEGFA_ENST00000324450.6_Nonsense_Mutation_p.Q228*|VEGFA_ENST00000425836.2_Nonsense_Mutation_p.Q228*	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	48					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGATGTCTATCAGCGCAGCTA	0.547000													22	26					0	0	0.002780	0	0
NPAS4	266743	broad.mit.edu	37	11	66191958	66191958	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:66191958C>T	ENST00000311034.2	+	7	1773	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	533					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCTGACTCCTCCCAGCAC	0.612000													93	79					0	0	0.003610	0	0
IGF2R	3482	broad.mit.edu	37	6	160505109	160505109	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:160505109C>T	ENST00000356956.1	+	40	6109	c.5961C>T	c.(5959-5961)tgC>tgT	p.C1987C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1987					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)		AAGTTGTCTGCCCTCCAAAGA	0.498000													43	7					0	0	0.002522	0	0
FAT3	120114	broad.mit.edu	37	11	92087642	92087642	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:92087642C>T	ENST00000298047.6	+	1	2381	c.2364C>T	c.(2362-2364)ccC>ccT	p.P788P	FAT3_ENST00000541502.1_Silent_p.P788P|FAT3_ENST00000525166.1_Silent_p.P638P|FAT3_ENST00000409404.2_Silent_p.P788P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	788	Cadherin 7.				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)				TCCTTATGCCCATGGATCGAG	0.408000										TCGA Ovarian(4;0.039)			368	254					0	0	0.003610	0	0
STIM1	6786	broad.mit.edu	37	11	4112520	4112520	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4112520C>T	ENST00000300737.4	+	12	2119	c.1550C>T	c.(1549-1551)aCc>aTc	p.T517I	STIM1_ENST00000527651.1_Silent_p.D529D|STIM1_ENST00000533977.1_Missense_Mutation_p.T344I	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	517					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGGGATTTGACCCATTCCGAT	0.562000													30	94					0	0	0.003271	0	0
RTN2	6253	broad.mit.edu	37	19	45997557	45997557	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:45997557C>T	ENST00000245923.4	-	4	916	c.681G>A	c.(679-681)tcG>tcA	p.S227S	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.S227S|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	227						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCCCAGAGTTCGAATCTCGCG	0.632000													16	42					0	0	0.000958	0	0
FRAS1	80144	broad.mit.edu	37	4	79254479	79254479	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:79254479G>A	ENST00000264895.6	+	19	2631	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	FRAS1_ENST00000325942.6_Missense_Mutation_p.D731N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	731					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						TAACTGCACAGACTGTGGGCC	0.527000													4	15					0	0	0.000248	0	0
RBBP8	5932	broad.mit.edu	37	18	20572771	20572771	+	Silent	SNP	T	T	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:20572771T>A	ENST00000399722.2	+	11	1332	c.981T>A	c.(979-981)tcT>tcA	p.S327S	RBBP8_ENST00000360790.5_Silent_p.S327S|RBBP8_ENST00000399725.2_Silent_p.S327S|RBBP8_ENST00000327155.5_Silent_p.S327S	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	327					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGTGTCATCTCCTGTATTTG	0.333000								Homologous recombination					37	96					0	0	0.001287	0	0
MKI67	4288	broad.mit.edu	37	10	129904640	129904640	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:129904640G>A	ENST00000368654.3	-	13	5839	c.5464C>T	c.(5464-5466)Cgt>Tgt	p.R1822C	MKI67_ENST00000368653.3_Missense_Mutation_p.R1462C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1822	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTTCCTTACGAGTTTGTAGC	0.473000													97	13					0	0	0.003610	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816294	1816294	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:1816294G>A	ENST00000250894.4	+	22	2857	c.2700G>A	c.(2698-2700)gaG>gaA	p.E900E	MAPK8IP3_ENST00000356010.5_Silent_p.E894E	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	900					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCACGGAGGTGCCAGACC	0.667000													15	24					0	0	0.003163	0	0
OR6T1	219874	broad.mit.edu	37	11	123813587	123813587	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123813587C>T	ENST00000321252.2	-	1	993	c.959G>A	c.(958-960)aGt>aAt	p.S320N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTTCCTTTGACTTGTGACCCT	0.413000													22	64					0	0	0.001523	0	0
COL4A4	1286	broad.mit.edu	37	2	228004933	228004933	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:228004933G>A	ENST00000396625.3	-	4	343	c.136C>T	c.(136-138)Cct>Tct	p.P46S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P46S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	46	7S domain.				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)		CCTCCACAAGGACCAATGTAT	0.408000													17	55					0	0	0.000958	0	0
OR10S1	219873	broad.mit.edu	37	11	123847609	123847609	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123847609G>A	ENST00000531945.1	-	1	879	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACGTAGTACAGGAGCACCCCA	0.612000													28	52					0	0	0.004656	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640876	6640876	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:6640876C>T	ENST00000377674.4	+	2	365	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	69	BTB.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CTGCTGGCTTCGCTGAGATCT	0.577000													25	39					0	0	0.003330	0	0
SEC22B	9554	broad.mit.edu	37	1	145112510	145112510	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:145112510G>A	ENST00000453618.1	+	0	811							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ACGAGGAGAAGCACTCTCAGG	0.408000													7	146					0	0	0.001984	0	0
GSDMA	284110	broad.mit.edu	37	17	38122577	38122577	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38122577G>A	ENST00000301659.4	+	3	397	c.279G>A	c.(277-279)gtG>gtA	p.V93V		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	93					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AGGGAGATGTGGATGTACCAA	0.562000													72	37					0	0	0.003610	0	0
ANKK1	255239	broad.mit.edu	37	11	113265695	113265695	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:113265695G>A	ENST00000303941.3	+	3	619	c.525G>A	c.(523-525)cgG>cgA	p.R175R		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	175	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGTCCACCCGGATGCAGTACA	0.547000													8	13					0	0	0.004482	0	0
COG7	91949	broad.mit.edu	37	16	23457228	23457228	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:23457228G>A	ENST00000307149.5	-	2	409	c.224C>T	c.(223-225)gCc>gTc	p.A75V		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	75					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CTGTTTTAGGGCTTCAACATC	0.388000													22	21					0	0	0.003330	0	0
RAG2	5897	broad.mit.edu	37	11	36615058	36615058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:36615058C>T	ENST00000311485.3	-	2	822	c.661G>A	c.(661-663)Gga>Aga	p.G221R		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	221					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)				AGTGAATGTCCTCCTAAAATA	0.443000									Familial Hemophagocytic Lymphohistiocytosis				12	52					0	0	0.001368	0	0
ACIN1	22985	broad.mit.edu	37	14	23528546	23528546	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:23528546T>G	ENST00000262710.1	-	19	4164	c.3837A>C	c.(3835-3837)aaA>aaC	p.K1279N	ACIN1_ENST00000338631.6_Missense_Mutation_p.K552N|ACIN1_ENST00000557515.1_Missense_Mutation_p.K520N|ACIN1_ENST00000357481.2_Missense_Mutation_p.K521N|ACIN1_ENST00000605057.1_Missense_Mutation_p.K1221N|ACIN1_ENST00000397341.3_Missense_Mutation_p.K521N|ACIN1_ENST00000555053.1_Missense_Mutation_p.K1266N|ACIN1_ENST00000457657.1_Missense_Mutation_p.K1239N	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1279	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCTCCCGACGTTTCTCTCGCT	0.612000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	0					0	0	0.001984	0	0
PLB1	151056	broad.mit.edu	37	2	28816583	28816583	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:28816583C>T	ENST00000422425.2	+	32	2294	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	PLB1_ENST00000329020.6_Silent_p.L449L|PLB1_ENST00000327757.5_Silent_p.L761L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	761	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGACGACCTCCCCGATGTCA	0.493000													11	15					0	0	0.000978	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408420	75408420	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:75408420C>T	ENST00000394810.2	-	4	1139	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNPO2L_ENST00000372872.4_Silent_p.T330T|SYNPO2L_ENST00000372873.4_Silent_p.T106T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	330						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGACTCACTCGTGGGGGGAA	0.607000													14	29					0	0	0.002450	0	0
GBF1	8729	broad.mit.edu	37	10	104121493	104121493	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:104121493A>T	ENST00000369983.3	+	14	1767	c.1507A>T	c.(1507-1509)Atg>Ttg	p.M503L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	503					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAAAAAGCTTATGGAGATCAT	0.448000													20	24					0	0	0.002780	0	0
RBM14	10432	broad.mit.edu	37	11	66392297	66392297	+	Missense_Mutation	SNP	C	C	T	rs141633741	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:66392297C>T	ENST00000310137.4	+	2	1089	c.950C>T	c.(949-951)tCc>tTc	p.S317F	RBM4_ENST00000503028.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	317	Ala-rich.|TRBP-interacting domain.				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						GCCCTTTCCTCCTATGGGGGT	0.617000													20	22					0	0	0.001523	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42839718	42839718	+	Silent	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:42839718T>C	ENST00000398585.3	-	13	1581	c.1521A>G	c.(1519-1521)agA>agG	p.R507R	TMPRSS2_ENST00000332149.5_Silent_p.R470R|TMPRSS2_ENST00000458356.1_Silent_p.R470R	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	470					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ACACTCCTGGTCTGTAAGCTT	0.507000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								59	7					0	0	0.003610	0	0
TCOF1	6949	broad.mit.edu	37	5	149753761	149753761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:149753761C>T	ENST00000451292.1	+	8	1003	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	TCOF1_ENST00000394269.3_Nonsense_Mutation_p.Q299*|TCOF1_ENST00000513346.1_Nonsense_Mutation_p.Q299*|TCOF1_ENST00000445265.2_Nonsense_Mutation_p.Q222*|TCOF1_ENST00000377797.3_Nonsense_Mutation_p.Q299*|TCOF1_ENST00000323668.7_Nonsense_Mutation_p.Q222*|TCOF1_ENST00000504761.2_Nonsense_Mutation_p.Q299*|TCOF1_ENST00000439160.2_Nonsense_Mutation_p.Q299*			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	299					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAATTCTCCAGGTCAGAGC	0.567000													4	5					0	0	0.000248	0	0
FAM26E	254228	broad.mit.edu	37	6	116836995	116836995	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:116836995C>T	ENST00000368599.3	+	2	824	c.773C>T	c.(772-774)aCg>aTg	p.T258M	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	258						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CCCATGCCTACGTTTGCTGCC	0.478000													25	31					0	0	0.003954	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658662	167658662	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:167658662C>T	ENST00000357154.3	-	11	1234	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	SPOCK3_ENST00000511531.1_Missense_Mutation_p.G366E|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G366E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.G268E|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G270E|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G366E|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G363E|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G246E|SPOCK3_ENST00000541637.1_Missense_Mutation_p.G268E|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G315E|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G363E|SPOCK3_ENST00000535728.1_Missense_Mutation_p.G234E|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G323E|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G363E	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	366	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.G363E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTTCATTTCCATATCTGTC	0.403000													33	95					0	0	0.004878	0	0
CCDC146	57639	broad.mit.edu	37	7	76909909	76909909	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:76909909G>A	ENST00000285871.4	+	14	1985	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	CCDC146_ENST00000431197.1_Missense_Mutation_p.E334K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	620										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CACAATGATCGAAGAGGAGAT	0.418000													20	20					0	0	0.002299	0	0
KCNE3	10008	broad.mit.edu	37	11	74168380	74168380	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:74168380G>A	ENST00000310128.4	-	3	648	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	KCNE3_ENST00000525550.1_Silent_p.L77L|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	77						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					GTGTATCCCAGGATGAGGCTG	0.512000													18	38					0	0	0.001216	0	0
IGSF1	3547	broad.mit.edu	37	X	130416672	130416672	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:130416672G>A	ENST00000370904.1	-	13	1875	c.965C>T	c.(964-966)gCt>gTt	p.A322V	IGSF1_ENST00000370910.1_Missense_Mutation_p.A322V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A331V|IGSF1_ENST00000370903.3_Missense_Mutation_p.A331V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	331	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTGGACCACAGCACTGGGCCG	0.498000													24	3					0	0	0.005443	0	0
C1orf111	284680	broad.mit.edu	37	1	162346550	162346550	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:162346550C>T	ENST00000367935.4	-	1	110	c.31G>A	c.(31-33)Gga>Aga	p.G11R	RP11-565P22.6_ENST00000431696.1_Intron|C1orf111_ENST00000493255.1_5'UTR	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	11										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			ATTGGAGGTCCAGAGATGCTG	0.552000													8	68					0	0	0.004482	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917794	3917794	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:3917794G>A	ENST00000381638.2	-	50	8285	c.8161C>T	c.(8161-8163)Cct>Tct	p.P2721S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2721							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGGCACCAGGAATGTGAACT	0.522000													55	43					0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883273	131883273	+	Silent	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:131883273A>T	ENST00000359827.3	-	13	3671	c.2709T>A	c.(2707-2709)ccT>ccA	p.P903P	PLXNA4_ENST00000321063.4_Silent_p.P903P			Q9HCM2	PLXA4_HUMAN	plexin A4	903	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCACTAAAGGGCTGCACT	0.562000													15	63					0	0	0.003163	0	0
CR1	1378	broad.mit.edu	37	1	207696956	207696956	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:207696956G>A	ENST00000367049.4	+	5	488	c.487_splice	c.e5-1	p.R163_splice	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Splice_Site_p.R163_splice|CR1_ENST00000367051.1_Intron|CR1_ENST00000367053.1_Splice_Site_p.R163_splice|CR1_ENST00000400960.2_Splice_Site_p.R163_splice	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	163	Sushi 2.				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						CTTTTTCCAGGAATTCCTTGT	0.383000													12	51					0	0	0.001368	0	0
MGAM	8972	broad.mit.edu	37	7	141766401	141766401	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:141766401C>T	ENST00000475668.2	+	41	4853	c.4799C>T	c.(4798-4800)gCt>gTt	p.A1600V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1600	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)	TGGGATGCTGCTTTTGTGAAT	0.473000													52	55					0	0	0.003610	0	0
EPHB6	2051	broad.mit.edu	37	7	142561946	142561946	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:142561946C>T	ENST00000392957.2	+	7	1175	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	EPHB6_ENST00000442129.1_Missense_Mutation_p.L130F|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	130						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GACCTTCACCCTTTACTACCG	0.647000													29	96					0	0	0.001786	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315096	30315096	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:30315096C>T	ENST00000375377.1	-	3	4082	c.3981G>A	c.(3979-3981)agG>agA	p.R1327R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1327										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						CCTTCTCTTCCCTGGAGATGC	0.597000													34	51					0	0	0.003755	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409792	22409792	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:22409792G>A	ENST00000390441.2	+	0	338																											CTTTCCACTTGGAGAAAGGCT	0.502000													13	27					0	0	0.001368	0	0
IGLC3	3539	broad.mit.edu	37	22	23248698	23248698	+	RNA	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:23248698A>G	ENST00000390325.2	+	0	187																											AAACAAAGCAACAACAAGTAC	0.597000													26	5					0	0	0.002096	0	0
SACS	26278	broad.mit.edu	37	13	23910621	23910621	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:23910621G>A	ENST00000382298.3	-	10	7982	c.7394C>T	c.(7393-7395)tCg>tTg	p.S2465L	SACS_ENST00000382292.3_Missense_Mutation_p.S2465L|SACS_ENST00000402364.1_Missense_Mutation_p.S1715L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2465					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)		GTAGCATAACGATTTAGCAGG	0.353000													51	26					0	0	0.003610	0	0
C1orf56	54964	broad.mit.edu	37	1	151020842	151020842	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:151020842C>G	ENST00000368926.5	+	1	627	c.519C>G	c.(517-519)agC>agG	p.S173R		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	173						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	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)			CCACCCTGAGCCAGTGGTCCA	0.652000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	64					0	0	0.001882	0	0
TNIK	23043	broad.mit.edu	37	3	170789032	170789032	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:170789032G>A	ENST00000436636.2	-	29	3873	c.3529C>T	c.(3529-3531)Cat>Tat	p.H1177Y	TNIK_ENST00000460047.1_Missense_Mutation_p.H1114Y|TNIK_ENST00000369326.5_Missense_Mutation_p.H1155Y|TNIK_ENST00000357327.5_Missense_Mutation_p.H1148Y|TNIK_ENST00000341852.6_Missense_Mutation_p.H1093Y|TNIK_ENST00000284483.8_Missense_Mutation_p.H1169Y|TNIK_ENST00000488470.1_Missense_Mutation_p.H1122Y|TNIK_ENST00000475336.1_Missense_Mutation_p.H1085Y|TNIK_ENST00000470834.1_Missense_Mutation_p.H1140Y|TNIK_ENST00000538048.1_Missense_Mutation_p.H1129Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1177	CNH.				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)			ATGAATTTATGATACGGTTTA	0.299000													6	12					0	0	0.003080	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202211358	202211358	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:202211358T>A	ENST00000405148.2	-	5	718	c.275A>T	c.(274-276)aAt>aTt	p.N92I	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.N92I|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.N92I|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.N92I	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	92					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CTGTTCCCGATTCCGAACAAG	0.453000													29	85					0	0	0.005524	0	0
AURKC	6795	broad.mit.edu	37	19	57746709	57746709	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:57746709C>T	ENST00000302804.7	+	7	1040	c.854C>T	c.(853-855)gCc>gTc	p.A285V	AURKC_ENST00000448930.1_Missense_Mutation_p.A251V|AURKC_ENST00000415300.2_Missense_Mutation_p.A266V|AURKC_ENST00000598785.1_Missense_Mutation_p.A251V|AURKC_ENST00000599062.1_Missense_Mutation_p.A282V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	285	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CTGCCCCTGGCCCAGATCCTG	0.592000													37	45					0	0	0.005524	0	0
USF1	7391	broad.mit.edu	37	1	161012645	161012645	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161012645C>T	ENST00000368021.3	-	3	240	c.36G>A	c.(34-36)gaG>gaA	p.E12E	USF1_ENST00000435396.1_5'UTR|USF1_ENST00000368020.1_Silent_p.E12E|USF1_ENST00000368019.1_Silent_p.E12E	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	12					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCACTGTCCCCTCTTCCGTTT	0.488000													30	164					0	0	0.004878	0	0
GPR158	57512	broad.mit.edu	37	10	25887370	25887370	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:25887370A>G	ENST00000376351.3	+	11	3174	c.2815A>G	c.(2815-2817)Aaa>Gaa	p.K939E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	939						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCAAAAGATAAAGAGACAAA	0.453000													99	14					0	0	0.003610	0	0
TACR1	6869	broad.mit.edu	37	2	75276617	75276617	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:75276617C>T	ENST00000305249.4	-	5	1931	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	389					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGTCACTTCGTGAAGAGCA	0.617000													82	56					0	0	0.003610	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081057	53081057	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:53081057G>A	ENST00000305901.5	-	1	1152	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	342					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTCCCGGCCGGATTTGAGTTT	0.657000													11	44					0	0	0.001368	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648742	41648742	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:41648742C>T	ENST00000313860.7	+	12	1551	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	LIMCH1_ENST00000396595.3_Silent_p.F345F|LIMCH1_ENST00000513024.1_Silent_p.F328F|LIMCH1_ENST00000508501.1_Silent_p.F499F|LIMCH1_ENST00000509277.1_Silent_p.F333F|LIMCH1_ENST00000503057.1_Silent_p.F884F|LIMCH1_ENST00000511496.1_Silent_p.F340F|LIMCH1_ENST00000512946.1_Silent_p.F499F|LIMCH1_ENST00000512632.1_Silent_p.F499F|LIMCH1_ENST00000512820.1_Silent_p.F487F|LIMCH1_ENST00000514096.1_Silent_p.F340F|LIMCH1_ENST00000381753.4_Silent_p.F333F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	499					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACCCAAATTCACTGCCACTG	0.502000													175	102					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9006363	9006363	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9006363A>G	ENST00000397910.4	-	45	39858	c.39655T>C	c.(39655-39657)Tgc>Cgc	p.C13219R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13221	SEA 8.				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						GTCAGTCTGCAGCCAGAATAC	0.522000													16	92					0	0	0.001523	0	0
PXDN	7837	broad.mit.edu	37	2	1677425	1677425	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:1677425G>A	ENST00000252804.4	-	9	1058	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	336					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGAGACCCGAAGTACCTGA	0.537000													38	109					0	0	0.001485	0	0
B3GAT1	27087	broad.mit.edu	37	11	134252684	134252684	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:134252684C>T	ENST00000524765.1	-	4	5382	c.838G>A	c.(838-840)Gga>Aga	p.G280R	B3GAT1_ENST00000312527.4_Missense_Mutation_p.G280R|B3GAT1_ENST00000392580.1_Missense_Mutation_p.G280R|B3GAT1_ENST00000537389.1_Missense_Mutation_p.G293R			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	280					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGGTAGCCTCCCTTCACACCT	0.587000													11	36					0	0	0.002450	0	0
BCMO1	53630	broad.mit.edu	37	16	81303860	81303860	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:81303860G>A	ENST00000258168.2	+	7	1401	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	BCMO1_ENST00000425577.2_Missense_Mutation_p.E245K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	314					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAACGCCTACGAAGAGGACGG	0.522000													29	69					0	0	0.001512	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	52					0	0	0.003755	0	0
KCTD18	130535	broad.mit.edu	37	2	201355076	201355076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:201355076G>A	ENST00000359878.3	-	7	1538	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	KCTD18_ENST00000409157.1_Missense_Mutation_p.P343L	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	343						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAAGCCTGAGGATGCCCAGG	0.627000													28	61					0	0	0.001271	0	0
ASB15	142685	broad.mit.edu	37	7	123276868	123276868	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:123276868C>T	ENST00000451558.1	+	14	2121	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	ASB15_ENST00000540573.1_Missense_Mutation_p.P534S|ASB15_ENST00000434204.1_Missense_Mutation_p.P534S|ASB15_ENST00000275699.3_Missense_Mutation_p.P534S|ASB15_ENST00000451215.1_Missense_Mutation_p.P534S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	534	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTTAGAGAATCCTTGTTCATT	0.393000													39	60					0	0	0.001485	0	0
OR6T1	219874	broad.mit.edu	37	11	123814103	123814103	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123814103G>A	ENST00000321252.2	-	1	477	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCTAGCCAGGAGGCCAGCAC	0.557000													23	18					0	0	0.001882	0	0
NFE2	4778	broad.mit.edu	37	12	54687052	54687052	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:54687052G>A	ENST00000540264.2	-	2	737	c.228C>T	c.(226-228)ttC>ttT	p.F76F	NFE2_ENST00000312156.4_Silent_p.F76F|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.F76F|NFE2_ENST00000553070.1_Silent_p.F76F			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	76	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAGGAAGTGGGAAGCCAGAAT	0.562000													33	86					0	0	0.003755	0	0
DIP2B	57609	broad.mit.edu	37	12	51108324	51108324	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:51108324C>T	ENST00000301180.5	+	23	2830	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	932						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCAACATCCTCATGTGCCCCC	0.463000													33	27					0	0	0.002836	0	0
CAMK4	814	broad.mit.edu	37	5	110820014	110820014	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:110820014G>A	ENST00000282356.4	+	11	1670	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.G424G	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	424					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGAGGATGGGATAAAGGTGG	0.537000													27	22					0	0	0.001061	0	0
MAN1A1	4121	broad.mit.edu	37	6	119515055	119515055	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:119515055G>A	ENST00000368468.3	-	9	1654	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	405					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)		ACTGATACATGATCTGGAAAG	0.388000													26	8					0	0	0.003954	0	0
FBXW12	285231	broad.mit.edu	37	3	48423247	48423247	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:48423247G>A	ENST00000296438.5	+	9	1229	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	FBXW12_ENST00000436231.1_Missense_Mutation_p.G191E|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000415155.1_Missense_Mutation_p.G278E|FBXW12_ENST00000445170.1_Missense_Mutation_p.G329E	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	348										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTGGATGGGAGCCAGTGAT	0.443000													15	38					0	0	0.004007	0	0
ZNF284	342909	broad.mit.edu	37	19	44590208	44590208	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:44590208C>T	ENST00000421176.3	+	5	793	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TCTTTGTCTTCATCAGAAAGT	0.398000													9	32					0	0	0.000443	0	0
SLC28A1	9154	broad.mit.edu	37	15	85476408	85476408	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:85476408G>A	ENST00000394573.1	+	13	1318	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.V372V|SLC28A1_ENST00000537216.1_Silent_p.V372V|SLC28A1_ENST00000286749.3_Silent_p.V372V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	372					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGCCTCTGTGATGGCTGCCC	0.567000													80	108					0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152127240	152127240	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:152127240C>T	ENST00000316073.3	-	3	2399	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	779	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						TGGTTCTGCTCGTCTTCATGG	0.458000													116	584					0	0	0.003610	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891506	2891506	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:2891506G>A	ENST00000254528.3	+	4	1540	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	461					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAATGTGACGGAGAAGAACGC	0.448000													45	138					0	0	0.003610	0	0
SETD1A	9739	broad.mit.edu	37	16	30972749	30972749	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:30972749C>T	ENST00000262519.8	+	4	1094	c.408C>T	c.(406-408)ggC>ggT	p.G136G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	136	RRM.				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						AGCACCTGGGCCTGGCCCGTG	0.587000													26	23					0	0	0.004656	0	0
SCEL	8796	broad.mit.edu	37	13	78130041	78130041	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:78130041C>T	ENST00000535157.1	+	2	201	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SCEL_ENST00000377246.3_Missense_Mutation_p.P11S|SCEL_ENST00000349847.3_Missense_Mutation_p.P11S	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	11					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAAATGTCTCCCACAGGAAA	0.353000													33	34					0	0	0.001287	0	0
NEFH	4744	broad.mit.edu	37	22	29885294	29885294	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:29885294G>A	ENST00000310624.6	+	4	1698	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	555	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CTCCAGCAAAGGAAGAGGCAA	0.572000													34	6					0	0	0.004878	0	0
RHOA	387	broad.mit.edu	37	3	49400013	49400013	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:49400013G>A	ENST00000454011.2	-	3	313	c.203C>T	c.(202-204)cCa>cTa	p.P68L	RHOA_ENST00000418115.1_Silent_p.P108P|RHOA_ENST00000422781.1_Silent_p.P108P			P61586	RHOA_HUMAN	ras homolog family member A	0					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TGGGCACGTTGGGACAGAAAT	0.458000													53	31					0	0	0.003610	0	0
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:100273819C>T	ENST00000515683.1	-	0	365				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313000													38	27					0	0	0.002222	0	0
MET	4233	broad.mit.edu	37	7	116414943	116414943	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:116414943C>T	ENST00000397752.3	+	15	3237	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	MET_ENST00000318493.6_Missense_Mutation_p.P1031S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1013					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATCAGTTTCCTAATTCATC	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				36	54					0	0	0.001706	0	0
NOS1	4842	broad.mit.edu	37	12	117665378	117665378	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:117665378G>A	ENST00000317775.6	-	23	4159	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F	NOS1_ENST00000338101.4_Silent_p.F1192F|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1158	FAD-binding FR-type.				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)	GGATAGATGGGAACTCCTCCA	0.582000													25	86					0	0	0.001271	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:127912080G>A	ENST00000451402.1	-	8	1121	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000													22	3					0	0	0.003330	0	0
SPTA1	6708	broad.mit.edu	37	1	158590251	158590251	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158590251C>T	ENST00000368148.3	-	44	6306	c.6126G>A	c.(6124-6126)gaG>gaA	p.E2042E	SPTA1_ENST00000368147.3_Silent_p.E2039E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2042					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)					CGAACAGGTCCTCAGCCTGCA	0.418000													7	36					0	0	0.003080	0	0
PDE12	201626	broad.mit.edu	37	3	57542432	57542432	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:57542432C>T	ENST00000311180.8	+	1	429	c.326C>T	c.(325-327)tCa>tTa	p.S109L	PDE12_ENST00000487257.1_Missense_Mutation_p.S109L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	109							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCGGCCTGTTCAGGGCCGGGG	0.657000													6	24					0	0	0.003080	0	0
UNC5B	219699	broad.mit.edu	37	10	73048424	73048424	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:73048424G>A	ENST00000335350.6	+	7	1417	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	UNC5B_ENST00000373192.4_Missense_Mutation_p.G334E	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	334	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCCCAGAACGGAGGCCGTGAC	0.657000													22	4					0	0	0.001882	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993370	140993370	+	Silent	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:140993370G>C	ENST00000285879.4	+	4	466	c.180G>C	c.(178-180)ggG>ggC	p.G60G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	60							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCTGAGGGGGAGGACTCCT	0.602000										HNSCC(15;0.026)			23	10					0	0	0.002780	0	0
CAMK2B	816	broad.mit.edu	37	7	44294152	44294152	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:44294152C>T	ENST00000395749.2	-	5	406	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CAMK2B_ENST00000346990.4_Silent_p.E110E|CAMK2B_ENST00000258682.6_Silent_p.E110E|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000347193.4_Silent_p.E110E|CAMK2B_ENST00000457475.1_Silent_p.E110E|CAMK2B_ENST00000440254.2_Silent_p.E110E|CAMK2B_ENST00000395747.2_Silent_p.E110E|CAMK2B_ENST00000358707.3_Silent_p.E110E|CAMK2B_ENST00000350811.3_Silent_p.E110E|CAMK2B_ENST00000353625.4_Silent_p.E110E	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	110	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGGCATCAGCCTCGCTGTAGT	0.562000													21	99					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179547573	179547573	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179547573G>A	ENST00000589042.1	-	135	33169	c.32945C>T	c.(32944-32946)tCa>tTa	p.S10982L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S10665L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S9738L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10665	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTTGTACTGAAACAGCTTC	0.333000													30	23					0	0	0.001061	0	0
FMO2	2327	broad.mit.edu	37	1	171162636	171162636	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:171162636G>A	ENST00000441535.1	+	3	412	c.295G>A	c.(295-297)Gat>Aat	p.D99N	RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.D99N|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	99					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAAAAATTTGATCTGCTAAA	0.323000													10	44					0	0	0.001855	0	0
OR2T33	391195	broad.mit.edu	37	1	248436624	248436624	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248436624G>A	ENST00000318021.2	-	1	514	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACAATATGGGAAGCTCAGG	0.562000													97	14					0	0	0.003610	0	0
NUP214	8021	broad.mit.edu	37	9	134020013	134020013	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:134020013C>T	ENST00000359428.5	+	12	1785	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000411637.2_Silent_p.S547S|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Silent_p.S547S|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	547	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTTCATTCTCCTTTGGATCAT	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								16	34					0	0	0.000958	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146236083	146236083	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:146236083C>T	ENST00000508545.2	-	2	315	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	PPP2R2B_ENST00000530902.1_Intron|PPP2R2B_ENST00000394413.3_Intron|PPP2R2B_ENST00000356826.3_Intron|PPP2R2B_ENST00000394409.3_Intron|PPP2R2B_ENST00000394414.1_Intron|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E6K|PPP2R2B_ENST00000394411.4_Intron|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000453001.1_Intron			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	17					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGTGTTTTCATCTGGATAA	0.373000													11	24					0	0	0.001855	0	0
GABRB2	2561	broad.mit.edu	37	5	160721197	160721197	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:160721197G>A	ENST00000274547.2	-	11	1647	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	GABRB2_ENST00000393959.1_Missense_Mutation_p.T477I|GABRB2_ENST00000517901.1_Missense_Mutation_p.T376I|GABRB2_ENST00000517547.1_Missense_Mutation_p.T279I|GABRB2_ENST00000353437.6_Missense_Mutation_p.T439I|GABRB2_ENST00000520240.1_Missense_Mutation_p.T439I	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	477					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTCAGGGATGGTGATTTTCAG	0.488000													9	33					0	0	0.000673	0	0
MAATS1	89876	broad.mit.edu	37	3	119462915	119462915	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:119462915G>A	ENST00000273390.5	+	14	1851	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GAGACTGCAGGAGGAGAGGAG	0.562000													34	61					0	0	0.005524	0	0
ANO1	55107	broad.mit.edu	37	11	70007353	70007353	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:70007353C>T	ENST00000355303.5	+	17	1970	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	ANO1_ENST00000531349.1_Silent_p.S264S|ANO1_ENST00000530676.1_Silent_p.S409S|ANO1_ENST00000398543.2_Silent_p.S409S|ANO1_ENST00000316296.5_Silent_p.S497S|ANO1_ENST00000538023.1_Silent_p.S555S	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	555					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCTCCCCCTCCGTGCGGTCCA	0.582000													17	51					0	0	0.001523	0	0
PTPRE	5791	broad.mit.edu	37	10	129861433	129861433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:129861433G>A	ENST00000254667.3	+	10	991	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PTPRE_ENST00000306042.5_Missense_Mutation_p.E180K|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.E238K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	238	Tyrosine-protein phosphatase 1.				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)				AAACTTGAAAGAAAGGAAAGA	0.498000													25	2					0	0	0.001271	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806364	97806364	+	Silent	SNP	C	C	T	rs147718311		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97806364C>T	ENST00000358642.2	+	1	348	c.348C>T	c.(346-348)ctC>ctT	p.L116L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AATGCTTCCTCCTGGTGATGA	0.433000													39	124					0	0	0.005524	0	0
KCNG2	26251	broad.mit.edu	37	18	77659241	77659241	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:77659241G>A	ENST00000316249.3	+	2	826	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	276					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGGCCCGGGCGGGACCAAGCT	0.716000													6	37					0	0	0.003080	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200607	47200607	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:47200607G>A	ENST00000296861.2	-	6	2255	c.1862C>T	c.(1861-1863)gCt>gTt	p.A621V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	621					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)			TTTGTCCTCAGCCTGGGGAAT	0.517000													80	130					0	0	0.003610	0	0
FNTA	2339	broad.mit.edu	37	8	42940398	42940398	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:42940398T>G	ENST00000529687.1	+	9	1548	c.660T>G	c.(658-660)aaT>aaG	p.N220K	FNTA_ENST00000302279.3_Missense_Mutation_p.N371K|FNTA_ENST00000342116.4_Missense_Mutation_p.N304K			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	371					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GCACAGAAAATGACTCACCAA	0.373000													5	36					0	0	0.001984	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789957	25789957	+	Silent	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:25789957C>G	ENST00000399878.3	-	13	2228	c.2106G>C	c.(2104-2106)ggG>ggC	p.G702G	SEL1L3_ENST00000502949.1_Silent_p.G549G|SEL1L3_ENST00000264868.5_Silent_p.G667G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	702						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CACCTTGCTGCCCCCAGAACA	0.468000													29	59					0	0	0.001271	0	0
AC010731.4	0	broad.mit.edu	37	2	207509017	207509017	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:207509017C>T	ENST00000543490.1	+	0	232																											TCACCTGCTCCCTGCTCATTG	0.527000													10	13					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179489255	179489255	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179489255C>T	ENST00000589042.1	-	242	44976	c.44752G>A	c.(44752-44754)Gat>Aat	p.D14918N	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D13277N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12350N|TTN_ENST00000460472.2_Missense_Mutation_p.D5853N|TTN_ENST00000359218.5_Missense_Mutation_p.D5978N|TTN_ENST00000342175.6_Missense_Mutation_p.D6045N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13277	Fibronectin type-III 8.						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)			GTTTTAATATCCTCTGGGGTA	0.368000													31	73					0	0	0.002445	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062262	76062262	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:76062262A>C	ENST00000260045.3	-	5	2037	c.1932T>G	c.(1930-1932)tgT>tgG	p.C644W		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	644					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGATTCTCCAACAATGAAGCT	0.453000													30	103					0	0	0.002836	0	0
HECTD4	283450	broad.mit.edu	37	12	112622400	112622400	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:112622400G>A	ENST00000550722.1	-	61	10327	c.9932C>T	c.(9931-9933)cCc>cTc	p.P3311L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P3035L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3285L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGTCTTCTCGGGCTCAACTTT	0.627000													14	30					0	0	0.003163	0	0
GRM7	2917	broad.mit.edu	37	3	7621009	7621009	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:7621009C>T	ENST00000486284.1	+	8	2690	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.P806S|GRM7_ENST00000402647.2_Missense_Mutation_p.P806S|GRM7_ENST00000357716.4_Missense_Mutation_p.P806S|GRM7_ENST00000403881.1_Missense_Mutation_p.P806S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	806					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)	TGCCTTCATTCCAATTTTTTT	0.383000													20	9					0	0	0.000958	0	0
CHD5	26038	broad.mit.edu	37	1	6181214	6181214	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:6181214C>T	ENST00000262450.3	-	33	4962	c.4863G>A	c.(4861-4863)cgG>cgA	p.R1621R	CHD5_ENST00000378021.1_Silent_p.R478R	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1621					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCCTCTGGCCGCTCCTCTC	0.657000													12	21					0	0	0.001855	0	0
EPHA6	285220	broad.mit.edu	37	3	97202883	97202883	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97202883T>G	ENST00000389672.5	+	10	2218	c.2180T>G	c.(2179-2181)aTt>aGt	p.I727S	EPHA6_ENST00000502694.1_Missense_Mutation_p.I119S|EPHA6_ENST00000514100.1_Missense_Mutation_p.I119S|EPHA6_ENST00000442602.2_Missense_Mutation_p.I93S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	632	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGAATTCGTATTGAGAGAGTC	0.358000													6	22					0	0	0.003080	0	0
SEPT12	124404	broad.mit.edu	37	16	4834003	4834003	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:4834003G>A	ENST00000268231.8	-	5	704	c.441C>T	c.(439-441)atC>atT	p.I147I	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	147					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						GCTGGCGGGTGATGAGGATCT	0.632000													23	77					0	0	0.001061	0	0
GRIK3	2899	broad.mit.edu	37	1	37271919	37271919	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:37271919C>T	ENST00000373091.3	-	14	2116	c.2100G>A	c.(2098-2100)aaG>aaA	p.K700K	GRIK3_ENST00000373093.4_Silent_p.K700K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	700					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGTGGAGATCTTGGATTTCT	0.607000													11	11					0	0	0.000673	0	0
CHIA	27159	broad.mit.edu	37	1	111857955	111857955	+	Silent	SNP	C	C	T	rs41282498		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:111857955C>T	ENST00000369740.1	+	6	481	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Silent_p.F18F|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000343320.6_Silent_p.F126F	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	126					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCATCAAATTCCTGCGCCAGT	0.547000													79	43					0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	51					0	0	0.004289	0	0
TEAD4	7004	broad.mit.edu	37	12	3103987	3103987	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:3103987C>T	ENST00000359864.2	+	3	245	c.55C>T	c.(55-57)Cct>Tct	p.P19S	TEAD4_ENST00000358409.2_Missense_Mutation_p.P19S|TEAD4_ENST00000397122.2_Intron	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	19					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCCCACCTCCCCTGAGGGGAG	0.642000													40	37					0	0	0.005524	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472618	53472618	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:53472618C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AGTAAAGTTTCCCTATGACAT	0.393000													4	10					0	0	0.000602	0	0
STX5	6811	broad.mit.edu	37	11	62592034	62592034	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:62592034C>T	ENST00000294179.3	-	9	836	c.683G>A	c.(682-684)gGt>gAt	p.G228D	STX5_ENST00000394690.1_Missense_Mutation_p.G174D|STX5_ENST00000541317.1_Missense_Mutation_p.G132D|STX5_ENST00000377897.4_Missense_Mutation_p.G228D	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	228					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CACAGCACCACCGCCTGGGGG	0.552000													36	22					0	0	0.002836	0	0
FGF5	2250	broad.mit.edu	37	4	81207688	81207688	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:81207688G>A	ENST00000312465.7	+	3	895	c.669G>A	c.(667-669)gaG>gaA	p.E223E	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	223					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCAGTCGGAGCAGCCAGAAC	0.483000													13	42					0	0	0.002450	0	0
SREBF2	6721	broad.mit.edu	37	22	42266928	42266928	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:42266928C>T	ENST00000361204.4	+	4	922	c.756C>T	c.(754-756)tcC>tcT	p.S252S		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	252	Interaction with LMNA (By similarity).				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						AGACAGATTCCCTTGTTTTGA	0.517000													132	20					0	0	0.003610	0	0
KLK7	5650	broad.mit.edu	37	19	51483560	51483560	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:51483560G>A	ENST00000391807.1	-	4	506	c.405C>T	c.(403-405)tcC>tcT	p.S135S	KLK7_ENST00000595820.1_Silent_p.S135S|KLK7_ENST00000597707.1_Silent_p.S63S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Silent_p.S22S	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	135	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GTTCGCAGCGGGAGGGCAGCC	0.607000													10	55					0	0	0.000673	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790578	133790578	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:133790578C>T	ENST00000321016.8	-	18	3272	c.3042G>A	c.(3040-3042)gaG>gaA	p.E1014E	IGSF9B_ENST00000533871.2_Silent_p.E1014E			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1014	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCCATTCTCCTCGGGGATGG	0.667000													24	56					0	0	0.002299	0	0
COL25A1	84570	broad.mit.edu	37	4	109769920	109769920	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:109769920C>T	ENST00000399132.1	-	27	1959	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	COL25A1_ENST00000399127.1_Missense_Mutation_p.E450K|COL25A1_ENST00000399126.1_Missense_Mutation_p.E477K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	477	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATTACCTGCTCTCCATCCATT	0.353000													20	54					0	0	0.001523	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125233505	125233505	+	RNA	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:125233505T>C	ENST00000439075.1	-	0	1240					NR_026876.1																						CTTCATAATCTTAAAACATAA	0.373000													87	17					0	0	0.003610	0	0
UNC13B	10497	broad.mit.edu	37	9	35295821	35295821	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:35295821C>T	ENST00000378495.3	+	8	877	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S	UNC13B_ENST00000396787.1_Missense_Mutation_p.P231S|UNC13B_ENST00000378496.4_Missense_Mutation_p.P219S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	219					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTCCCTGTGCCGGTGCGATC	0.547000													39	5					0	0	0.005524	0	0
C3orf58	205428	broad.mit.edu	37	3	143704392	143704392	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:143704392C>T	ENST00000315691.3	+	2	1200	c.665C>T	c.(664-666)cCg>cTg	p.P222L	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000495414.1_Missense_Mutation_p.P13L|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	222						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAGAGTTTTCCGTCTGATGAA	0.373000													28	76					0	0	0.005443	0	0
SLC26A8	116369	broad.mit.edu	37	6	35943221	35943221	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:35943221G>A	ENST00000490799.1	-	10	1571	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	SLC26A8_ENST00000394602.2_Silent_p.F301F|SLC26A8_ENST00000355574.2_Silent_p.F406F	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	406					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						CACAAGATCTGAAAAATGAAC	0.383000													13	27					0	0	0.003163	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:219000488C>T	ENST00000318507.2	+	3	1391	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000													24	65					0	0	0.001061	0	0
GLIS3	169792	broad.mit.edu	37	9	4286116	4286116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:4286116C>T	ENST00000381971.3	-	2	903	c.310G>A	c.(310-312)Gga>Aga	p.G104R		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	336	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GACATGCCTCCAGCCTGGGTG	0.532000													34	39					0	0	0.004289	0	0
OGDHL	55753	broad.mit.edu	37	10	50944432	50944432	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:50944432C>T	ENST00000374103.4	-	21	2810	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.E700K|OGDHL_ENST00000419399.1_Missense_Mutation_p.E852K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	909					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCACTTTCTCCTCCAGGTCC	0.632000													59	11					0	0	0.003610	0	0
MAP1B	4131	broad.mit.edu	37	5	71482544	71482544	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:71482544C>T	ENST00000296755.7	+	4	771	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	158						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCTCTTTCTCCTTCCAGAAC	0.493000													20	90					0	0	0.001882	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657765	20657765	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:20657765C>T	ENST00000428453.1	-	0	2193																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGCTCGGTCCCGATGGGTTC	0.532000													9	33					0	0	0.000443	0	0
CDH3	1001	broad.mit.edu	37	16	68721503	68721503	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:68721503C>T	ENST00000264012.4	+	12	2203	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CDH3_ENST00000581171.1_Silent_p.I498I|CDH3_ENST00000429102.2_Silent_p.I553I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCGTCAGATCACCATCTGCA	0.572000													29	65					0	0	0.002445	0	0
KRT23	25984	broad.mit.edu	37	17	39092725	39092725	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:39092725G>A	ENST00000209718.3	-	2	555	c.131C>T	c.(130-132)tCc>tTc	p.S44F	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	44	Head.					intermediate filament	structural molecule activity	p.S44F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAAGGACAGGGAGATGCGGGC	0.701000													9	45					0	0	0.000673	0	0
SCN11A	11280	broad.mit.edu	37	3	38950535	38950535	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:38950535C>T	ENST00000302328.3	-	9	1450	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E418K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E418K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E418K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	418					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)	AACATCTTTTCCTTGGCCTCT	0.512000													39	138					0	0	0.002522	0	0
ACSL6	23305	broad.mit.edu	37	5	131303677	131303677	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:131303677C>G	ENST00000379264.2	-	16	1660	c.1552G>C	c.(1552-1554)Gat>Cat	p.D518H	ACSL6_ENST00000357096.1_Missense_Mutation_p.D418H|ACSL6_ENST00000379240.1_Missense_Mutation_p.D493H|ACSL6_ENST00000296869.4_Missense_Mutation_p.D518H|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000544770.1_Missense_Mutation_p.D402H|ACSL6_ENST00000543479.1_Missense_Mutation_p.D493H|ACSL6_ENST00000379244.1_Missense_Mutation_p.D493H|ACSL6_ENST00000379249.3_Missense_Mutation_p.D493H|ACSL6_ENST00000379255.1_Missense_Mutation_p.D418H|ACSL6_ENST00000431707.1_Missense_Mutation_p.D473H|ACSL6_ENST00000379272.2_Missense_Mutation_p.D508H|ACSL6_ENST00000379246.1_Missense_Mutation_p.D504H	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	493					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTCAACATCAACGAGCTTG	0.483000													37	48					0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180660	32180660	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:32180660C>T	ENST00000375023.3	-	16	2605	c.2467G>A	c.(2467-2469)Gac>Aac	p.D823N	NOTCH4_ENST00000465528.1_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	823	EGF-like 21.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGAGGGCTGTCCTGGCAGGTT	0.592000													55	153					0	0	0.003610	0	0
PREX1	57580	broad.mit.edu	37	20	47292788	47292788	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:47292788C>T	ENST00000396220.1	-	14	1630	c.1608G>A	c.(1606-1608)ctG>ctA	p.L536L	PREX1_ENST00000371941.3_Silent_p.L536L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	536	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGTAGGTCTTCAGGTGGTAAT	0.617000													29	90					0	0	0.001061	0	0
OR8D1	283159	broad.mit.edu	37	11	124180492	124180492	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:124180492G>A	ENST00000357821.2	-	1	241	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGTACATGGGGGTGTGAAGTA	0.488000													39	30					0	0	0.001485	0	0
ZNF107	51427	broad.mit.edu	37	7	64168503	64168503	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:64168503C>T	ENST00000395391.1	+	4	3196	c.1821C>T	c.(1819-1821)ccC>ccT	p.P607P	ZNF107_ENST00000344930.3_Silent_p.P607P|ZNF107_ENST00000423627.1_Silent_p.P607P			Q9UII5	ZN107_HUMAN	zinc finger protein 107	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAGAAACCCCACAAATGTG	0.343000													22	64					0	0	0.003330	0	0
INSR	3643	broad.mit.edu	37	19	7152745	7152745	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:7152745G>A	ENST00000341500.5	-	10	2262	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	INSR_ENST00000302850.5_Silent_p.F741F	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	741					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)	ACCTGGGGACGAAAACCACGT	0.537000													65	279					0	0	0.003610	0	0
FRMD4B	23150	broad.mit.edu	37	3	69336967	69336967	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:69336967G>A	ENST00000542259.1	-	5	726	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FRMD4B_ENST00000398540.3_Missense_Mutation_p.S146L			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	146	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTTTAAAAACGATATGCTCTC	0.438000													11	9					0	0	0.001855	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236585	140236585	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140236585C>T	ENST00000307360.5	+	1	952	c.952C>T	c.(952-954)Cat>Tat	p.H318Y	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.H318Y|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATGAAATTCATGTAGATGT	0.398000													34	4					0	0	0.004289	0	0
PRSS50	29122	broad.mit.edu	37	3	46754496	46754496	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:46754496C>T	ENST00000460241.1	-	10	2486	c.816G>A	c.(814-816)gaG>gaA	p.E272E	PRSS50_ENST00000315170.7_Silent_p.E272E			Q9UI38	TSP50_HUMAN	protease, serine, 50	272	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AATTGTCACACTCTTTGTTGT	0.522000													56	142					0	0	0.003610	0	0
CPED1	79974	broad.mit.edu	37	7	120906769	120906769	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:120906769C>T	ENST00000310396.5	+	20	3007	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGATCACGTCCCCTAGAGAAT	0.398000													38	53					0	0	0.002222	0	0
C11orf40	143501	broad.mit.edu	37	11	4593483	4593483	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4593483G>A	ENST00000307616.1	-	3	349	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	117										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGAGATCCAGGAAATAGAGAT	0.458000													31	16					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179577460	179577460	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179577460C>T	ENST00000589042.1	-	94	27516	c.27292G>A	c.(27292-27294)Ggc>Agc	p.G9098S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8781S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7854S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8781	Ig-like 74.						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)			GAAGCCTTGCCAGCTTCATTG	0.378000													52	34					0	0	0.003610	0	0
NLRP6	171389	broad.mit.edu	37	11	281033	281033	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:281033C>T	ENST00000534750.1	+	4	1504	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	NLRP6_ENST00000312165.5_Silent_p.A433A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	433	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCCGGTAGCCGACGGGCCCC	0.672000													85	43					0	0	0.003610	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586595	15586595	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:15586595G>A	ENST00000292609.4	-	2	1015	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.L296F			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	296					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AAGTGGCTGAGGGATGGCCGG	0.622000													28	31					0	0	0.001512	0	0
WARS2	10352	broad.mit.edu	37	1	119575949	119575949	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:119575949G>A	ENST00000235521.4	-	6	694	c.668C>T	c.(667-669)cCt>cTt	p.P223L	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.P129L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	223					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTTGGCAGAAGGATCACGTAG	0.438000													39	123					0	0	0.001706	0	0
FAT1	2195	broad.mit.edu	37	4	187541874	187541874	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:187541874C>T	ENST00000441802.2	-	10	6075	c.5866G>A	c.(5866-5868)Gat>Aat	p.D1956N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1956	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCTGCCATCGGAAGCTCTA	0.453000										HNSCC(5;0.00058)			41	95					0	0	0.001287	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834456	101834456	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:101834456C>T	ENST00000506729.1	-	1	264	c.93G>A	c.(91-93)aaG>aaA	p.K31K	SLCO6A1_ENST00000389019.3_Silent_p.K31K|SLCO6A1_ENST00000379807.3_Silent_p.K31K|SLCO6A1_ENST00000379810.1_Silent_p.K31K|SLCO6A1_ENST00000513675.1_Silent_p.K31K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	31						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCTCCTGTCCTTAGCAGGCT	0.622000													119	59					0	0	0.003610	0	0
SEMA6A	57556	broad.mit.edu	37	5	115837929	115837929	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:115837929G>C	ENST00000343348.6	-	3	982	c.195C>G	c.(193-195)aaC>aaG	p.N65K	SEMA6A_ENST00000510263.1_Missense_Mutation_p.N65K|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.N65K	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	65	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGAGGGTTCCGTTCATGATCA	0.488000													30	97					0	0	0.002445	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032136	46032136	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:46032136C>T	ENST00000334662.2	+	1	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	40	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						ACTGGCTCCTCCTGGCAGGTG	0.642000													23	43					0	0	0.002299	0	0
NPHS2	7827	broad.mit.edu	37	1	179533850	179533850	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:179533850G>A	ENST00000367615.4	-	2	421	c.353C>T	c.(352-354)cCt>cTt	p.P118L	NPHS2_ENST00000367616.4_Missense_Mutation_p.P118L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	118					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GATGGAAAAAGGGAAGGTCAT	0.463000													9	63					0	0	0.000978	0	0
ANKRD44	91526	broad.mit.edu	37	2	198001381	198001381	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:198001381G>A	ENST00000328737.2	-	4	197	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R66C|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R41C|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R58C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R41C|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R66C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	66							protein binding	p.R41C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCATTTACACGAGCTCCTGGA	0.468000													39	21					0	0	0.001485	0	0
WNT9B	7484	broad.mit.edu	37	17	44950057	44950057	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:44950057C>T	ENST00000393461.2	+	2	305	c.252C>T	c.(250-252)ctC>ctT	p.L84L	WNT9B_ENST00000290015.2_Silent_p.L84L			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	84					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	p.L90L(1)|p.L84L(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGCGCACCTCGGCCTGCTTG	0.652000													19	34					0	0	0.000958	0	0
PTPRC	5788	broad.mit.edu	37	1	198671599	198671599	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:198671599C>T	ENST00000367376.2	+	6	688	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.H175Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	173					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						CCTTGCACACCACAGCTCTGC	0.537000													46	234					0	0	0.003610	0	0
GRIP1	23426	broad.mit.edu	37	12	66911726	66911726	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:66911726C>T	ENST00000359742.4	-	6	773	c.533G>A	c.(532-534)cGt>cAt	p.R178H	GRIP1_ENST00000398016.3_Missense_Mutation_p.R178H|GRIP1_ENST00000286445.7_Missense_Mutation_p.R178H			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	178	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACAACTGGACGAGATTTATT	0.388000													12	42					0	0	0.002450	0	0
NR5A2	2494	broad.mit.edu	37	1	200017898	200017898	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:200017898C>T	ENST00000367362.3	+	5	1308	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	NR5A2_ENST00000544748.1_Silent_p.F282F|NR5A2_ENST00000236914.3_Silent_p.F308F	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	354	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAACTCTCTTCTCCATTGTCG	0.458000													31	163					0	0	0.002445	0	0
FCGBP	8857	broad.mit.edu	37	19	40363278	40363278	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:40363278C>T	ENST00000221347.6	-	32	14799	c.14792G>A	c.(14791-14793)gGc>gAc	p.G4931D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4931	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTCGCCGTCCACGGT	0.657000													6	26					0	0	0.001984	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956272	18956272	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:18956272C>T	ENST00000302797.3	-	1	284	c.60G>A	c.(58-60)gaG>gaA	p.E20E	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	20					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						AGCAAAGAGTCTCCTCAGTTC	0.532000													55	134					0	0	0.003610	0	0
C1orf189	388701	broad.mit.edu	37	1	154173059	154173059	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:154173059C>T	ENST00000368525.3	-	3	105	c.80G>A	c.(79-81)cGa>cAa	p.R27Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATGTGAATTTCGCCACCTGCT	0.483000													50	213					0	0	0.003610	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38340576	38340576	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38340576A>T	ENST00000436615.3	+	3	582	c.92A>T	c.(91-93)gAa>gTa	p.E31V	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.E80V|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.E31V|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.E86V	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	237	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTTCAAGAGGAAGAGGGGGCC	0.602000													32	106					0	0	0.004289	0	0
GFRAL	389400	broad.mit.edu	37	6	55214901	55214901	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:55214901G>A	ENST00000340465.2	+	4	414	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	110						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAACGTGAAAGAGGATAAATT	0.289000													14	45					0	0	0.004990	0	0
HECTD4	283450	broad.mit.edu	37	12	112622399	112622399	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:112622399G>A	ENST00000550722.1	-	61	10328	c.9933C>T	c.(9931-9933)ccC>ccT	p.P3311P	HECTD4_ENST00000430131.2_Silent_p.P3035P|HECTD4_ENST00000377560.5_Silent_p.P3285P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTGTCTTCTCGGGCTCAACTT	0.627000													15	29					0	0	0.004990	0	0
OR6K3	391114	broad.mit.edu	37	1	158687515	158687515	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158687515G>A	ENST00000368146.1	-	1	438	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	OR6K3_ENST00000368145.1_Missense_Mutation_p.R131C			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATTTGATAGCGAAGAGGGTTG	0.493000													33	153					0	0	0.003271	0	0
TPP1	1200	broad.mit.edu	37	11	6637555	6637555	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:6637555A>G	ENST00000533371.1	-	7	1135	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L	TPP1_ENST00000299427.6_Missense_Mutation_p.F356L			O14773	TPP1_HUMAN	tripeptidyl peptidase I	356					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCTGAGGCGAAGAGCAGGGTG	0.567000													24	74					0	0	0.001271	0	0
WHSC1	7468	broad.mit.edu	37	4	1902443	1902443	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:1902443T>G	ENST00000503128.1	+	2	269	c.62T>G	c.(61-63)aTg>aGg	p.M21R	WHSC1_ENST00000382895.3_Missense_Mutation_p.M21R|WHSC1_ENST00000382891.5_Missense_Mutation_p.M21R|WHSC1_ENST00000382892.2_Missense_Mutation_p.M21R|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21R|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21R|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21R|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21R|WHSC1_ENST00000508803.1_Missense_Mutation_p.M21R			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	21					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGCATAAAGATGAAGCAGGCA	0.507000			T	IGH@	MM								50	118					0	0	0.003610	0	0
ARID2	196528	broad.mit.edu	37	12	46125098	46125098	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:46125098G>A	ENST00000334344.6	+	3	456		c.e3+1		ARID2_ENST00000422737.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						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)		ATTACTTGCGGTGAGTAGTAG	0.378000			"""N, S, F"""		hepatocellular carcinoma								27	23					0	0	0.005443	0	0
FIBIN	387758	broad.mit.edu	37	11	27016635	27016635	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:27016635G>A	ENST00000318627.2	+	1	1008	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	188						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGACAAATACGAGCTGCTGGC	0.517000													15	58					0	0	0.004007	0	0
IFITM3	10410	broad.mit.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637000													9	88					0	0	0.004007	0	0
SEC63	11231	broad.mit.edu	37	6	108230237	108230237	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:108230237G>A	ENST00000369002.4	-	8	806	c.627C>T	c.(625-627)ggC>ggT	p.G209G		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	209	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACCACCAAGAGCCCTAAAACA	0.383000													10	14					0	0	0.000978	0	0
S1PR1	1901	broad.mit.edu	37	1	101705413	101705413	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:101705413C>T	ENST00000305352.6	+	2	1248	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	291					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACATCCTCTTCAGAGCGGAGT	0.552000													66	154					0	0	0.003610	0	0
FREM2	341640	broad.mit.edu	37	13	39264977	39264977	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:39264977C>T	ENST00000280481.7	+	1	3712	c.3496C>T	c.(3496-3498)Cgt>Tgt	p.R1166C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1166					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)		ATTTGTATTTCGTTGTTCTGA	0.418000													66	52					0	0	0.003610	0	0
KCNH6	81033	broad.mit.edu	37	17	61615918	61615918	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:61615918C>T	ENST00000583023.1	+	8	1860	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	KCNH6_ENST00000581784.1_Missense_Mutation_p.P564S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P564S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P617S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	617					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)	CCACGCGCCGCCTGGGGACAC	0.682000													5	17					0	0	0.000602	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175678	140175678	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140175678C>T	ENST00000526136.1	+	1	1129	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R377C|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R377C	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCGGATCGCGACTCTGG	0.522000													25	35					0	0	0.003954	0	0
STON1	11037	broad.mit.edu	37	2	48808954	48808954	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:48808954G>A	ENST00000309835.3	+	1	1192	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	STON1_ENST00000404752.1_Silent_p.E394E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E394E|STON1-GTF2A1L_ENST00000405008.1_Silent_p.E394E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E394E|STON1_ENST00000406226.1_Silent_p.E394E|STON1-GTF2A1L_ENST00000402114.2_Silent_p.E394E|STON1-GTF2A1L_ENST00000394754.1_Silent_p.E394E					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTACTGTGGAGGAGGAGCTGA	0.428000													28	23					0	0	0.001061	0	0
MAGI3	260425	broad.mit.edu	37	1	114196578	114196578	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:114196578G>A	ENST00000369615.1	+	15	2629	c.2567G>A	c.(2566-2568)cGa>cAa	p.R856Q	MAGI3_ENST00000369611.4_Missense_Mutation_p.R856Q|MAGI3_ENST00000307546.9_Missense_Mutation_p.R856Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.R881Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	881					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTTGCAACGAAAAGAAAAT	0.507000													104	228					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28736122	28736122	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:28736122G>A	ENST00000257197.3	-	4	616	c.355C>T	c.(355-357)Cct>Tct	p.P119S	DSC1_ENST00000257198.5_Missense_Mutation_p.P119S|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	119					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)			CTCTTCTTAGGAGACTACATT	0.408000													21	77					0	0	0.002299	0	0
PEG3	5178	broad.mit.edu	37	19	57327995	57327995	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:57327995C>T	ENST00000326441.9	-	10	2178	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G	PEG3_ENST00000593695.1_Silent_p.G479G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.G605G|PEG3_ENST00000598410.1_Silent_p.G481G|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAAAGGTTTCCCCGCGCtcac	0.453000													28	18					0	0	0.001061	0	0
TESPA1	9840	broad.mit.edu	37	12	55368220	55368220	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55368220G>A	ENST00000449076.1	-	2	259	c.127C>T	c.(127-129)Cct>Tct	p.P43S	TESPA1_ENST00000316577.8_Missense_Mutation_p.P43S	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	43																	GAAGGCTCAGGATCTGGGACA	0.597000													3	12					0	0	0.000602	0	0
FCRL4	83417	broad.mit.edu	37	1	157551345	157551345	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:157551345G>A	ENST00000271532.1	-	7	1360	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	409						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGCCAGCAGTGAAACAGCAGG	0.587000													10	60					0	0	0.001368	0	0
SAFB2	9667	broad.mit.edu	37	19	5590305	5590305	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:5590305G>A	ENST00000252542.4	-	18	2773	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	837	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGAGGGGGCAGCCCCCGGCCT	0.706000													5	19					0	0	0.000602	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421051	55421051	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55421051C>T	ENST00000242994.3	+	2	1206	c.828C>T	c.(826-828)tcC>tcT	p.S276S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	276					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S276S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TAGAAAAATCCTACAGCTTCA	0.502000													46	157					0	0	0.002522	0	0
ZNF747	65988	broad.mit.edu	37	16	30544148	30544148	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:30544148G>A	ENST00000569360.1	-	3	837	c.665C>T	c.(664-666)tCc>tTc	p.S222F	ZNF747_ENST00000535210.1_Missense_Mutation_p.S222F|ZNF747_ENST00000568028.1_Missense_Mutation_p.S222F|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR			Q9BV97	ZN747_HUMAN	zinc finger protein 747	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						GCTCAGGGAGGAAGCGTGGCC	0.667000													3	7					0	0	0.000248	0	0
GRIA4	2893	broad.mit.edu	37	11	105769154	105769154	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:105769154G>A	ENST00000393127.2	+	7	1331		c.e7+1		GRIA4_ENST00000282499.5_Splice_Site|GRIA4_ENST00000428631.2_Splice_Site|GRIA4_ENST00000525187.1_Splice_Site|GRIA4_ENST00000530497.1_Splice_Site|GRIA4_ENST00000393125.2_Splice_Site	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCCTCCAAAGGTATTTGTTTA	0.318000													20	17					0	0	0.001523	0	0
ADAM18	8749	broad.mit.edu	37	8	39468212	39468212	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:39468212C>T	ENST00000265707.5	+	6	554	c.509C>T	c.(508-510)cCt>cTt	p.P170L	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.P170L|ADAM18_ENST00000379866.1_Missense_Mutation_p.P170L	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	170					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACAAAGTTCCTTTAAACTCA	0.328000													15	34					0	0	0.004007	0	0
LRRC41	10489	broad.mit.edu	37	1	46745898	46745898	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:46745898C>T	ENST00000343304.6	-	7	2271	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	662										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AAAAGAGCACCTCGCTCTGAC	0.473000													24	74					0	0	0.003954	0	0
ADAM18	8749	broad.mit.edu	37	8	39495990	39495990	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:39495990G>A	ENST00000265707.5	+	10	879	c.834G>A	c.(832-834)agG>agA	p.R278R	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.R254R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	278	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAGTTACAGGAAACATCCTA	0.269000													19	25					0	0	0.001216	0	0
AURKC	6795	broad.mit.edu	37	19	57746710	57746710	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:57746710C>T	ENST00000302804.7	+	7	1041	c.855C>T	c.(853-855)gcC>gcT	p.A285A	AURKC_ENST00000448930.1_Silent_p.A251A|AURKC_ENST00000415300.2_Silent_p.A266A|AURKC_ENST00000598785.1_Silent_p.A251A|AURKC_ENST00000599062.1_Silent_p.A282A	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	285	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGCCCCTGGCCCAGATCCTGA	0.592000													36	46					0	0	0.004878	0	0
PML	5371	broad.mit.edu	37	15	74290542	74290542	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:74290542C>T	ENST00000565898.1	+	2	411	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PML_ENST00000436891.3_Silent_p.F109F|PML_ENST00000569965.1_Silent_p.F109F|PML_ENST00000435786.2_Silent_p.F109F|PML_ENST00000395132.2_Silent_p.F109F|PML_ENST00000395135.3_Silent_p.F109F|PML_ENST00000359928.4_Silent_p.F109F|PML_ENST00000354026.6_Silent_p.F109F|PML_ENST00000268058.3_Silent_p.F109F|PML_ENST00000268059.6_Silent_p.F109F|PML_ENST00000564428.1_Silent_p.F109F|PML_ENST00000569477.1_Silent_p.F109F|PML_ENST00000567543.1_Silent_p.F109F|PML_ENST00000563500.1_Silent_p.F109F			P29590	PML_HUMAN	promyelocytic leukemia	109					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACGTCTTTTTCGAGAGTCTGC	0.632000			T	"""RARA, PAX5"""	"""APL, ALL"""								38	29					0	0	0.001287	0	0
TPO	7173	broad.mit.edu	37	2	1440129	1440129	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:1440129G>A	ENST00000345913.4	+	5	546	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.R152K|TPO_ENST00000329066.4_Missense_Mutation_p.R152K|TPO_ENST00000337415.3_Missense_Mutation_p.R152K|TPO_ENST00000382201.3_Missense_Mutation_p.R152K|TPO_ENST00000349624.3_Missense_Mutation_p.R152K|TPO_ENST00000382269.3_Missense_Mutation_p.R152K|TPO_ENST00000539820.1_Missense_Mutation_p.R152K|TPO_ENST00000346956.3_Missense_Mutation_p.R152K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	152					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AACAAATACAGGCCCATCACA	0.443000													20	40					0	0	0.001882	0	0
DNAH5	1767	broad.mit.edu	37	5	13876808	13876808	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13876808G>A	ENST00000265104.4	-	22	3485	c.3381C>T	c.(3379-3381)atC>atT	p.I1127I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1127	Stem (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)					TGGTGGAGTTGATAATTGTGC	0.378000									Kartagener syndrome				39	31					0	0	0.001287	0	0
CEACAM3	1084	broad.mit.edu	37	19	42311148	42311148	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:42311148G>A	ENST00000595255.1	+	3	512		c.e3-1		CEACAM3_ENST00000344550.4_Intron|CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000357396.3_Intron			P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3							integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TTTCTGCACAGCGGAGCTGCC	0.512000													29	156					0	0	0.002836	0	0
CFAP221	200373	broad.mit.edu	37	2	120383232	120383232	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:120383232A>T	ENST00000602047.1	+	16	1738	c.626A>T	c.(625-627)aAg>aTg	p.K209M	PCDP1_ENST00000413369.3_Missense_Mutation_p.K495M|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		495						cilium	calmodulin binding					Colorectal(110;0.196)					ATACTGAGAAAGATTGGCCAA	0.428000													5	22					0	0	0.001168	0	0
GHR	2690	broad.mit.edu	37	5	42718559	42718559	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:42718559G>A	ENST00000230882.4	+	10	1140	c.950G>A	c.(949-951)gGa>gAa	p.G317E	GHR_ENST00000357703.3_Missense_Mutation_p.G295E|GHR_ENST00000537449.1_Missense_Mutation_p.G130E|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	317					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCTAGGAAGGAAAATTAGAG	0.299000													37	108					0	0	0.002222	0	0
MUC16	94025	broad.mit.edu	37	19	9088939	9088939	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9088939G>A	ENST00000397910.4	-	1	3079	c.2876C>T	c.(2875-2877)tCt>tTt	p.S959F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	959	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						GGGTGCAGCAGAGTCATTAAA	0.473000													102	130					0	0	0.003610	0	0
CLPB	81570	broad.mit.edu	37	11	72145328	72145328	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:72145328G>A	ENST00000294053.3	-	1	364	c.191C>T	c.(190-192)tCc>tTc	p.S64F	CLPB_ENST00000445069.2_Intron|CLPB_ENST00000437826.2_5'UTR|CLPB_ENST00000340729.5_Missense_Mutation_p.S64F|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.S64F	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	64					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCACGTCCGGAGAACAAGGC	0.682000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	120					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123171625	123171625	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:123171625C>T	ENST00000264501.4	+	37	6192	c.5819C>T	c.(5818-5820)cCa>cTa	p.P1940L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1940L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1940L			Q2LD37	K1109_HUMAN	KIAA1109	1940					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTGATTCTCCAACCGGCAGT	0.413000													37	39					0	0	0.001287	0	0
TREML4	285852	broad.mit.edu	37	6	41197297	41197297	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:41197297C>T	ENST00000341495.2	+	3	537	c.433C>T	c.(433-435)Cca>Tca	p.P145S	TREML4_ENST00000448827.2_Missense_Mutation_p.P145S	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	145						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCCCTGGCTCCCAACAAGCAC	0.572000													36	162					0	0	0.001951	0	0
PTPRT	11122	broad.mit.edu	37	20	40877449	40877449	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:40877449C>T	ENST00000373198.3	-	15	2482	c.2247G>A	c.(2245-2247)caG>caA	p.Q749Q	PTPRT_ENST00000373201.1_Silent_p.Q730Q|PTPRT_ENST00000373190.1_Silent_p.Q730Q|PTPRT_ENST00000373187.1_Silent_p.Q730Q|PTPRT_ENST00000373193.3_Silent_p.Q730Q|PTPRT_ENST00000356100.2_Silent_p.Q749Q|PTPRT_ENST00000373184.1_Silent_p.Q730Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	730					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTTAGAATTCTGGGTGGAGG	0.502000													15	20					0	0	0.002450	0	0
MYH7B	57644	broad.mit.edu	37	20	33589068	33589068	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:33589068G>A	ENST00000262873.7	+	40	5714	c.5622G>A	c.(5620-5622)gaG>gaA	p.E1874E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1832						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGGCTGAGCTTGATGCAG	0.657000													6	17					0	0	0.001984	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117551	4117551	+	Missense_Mutation	SNP	A	A	C	rs121434498		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:4117551A>C	ENST00000262948.5	-	2	422	c.169T>G	c.(169-171)Ttt>Gtt	p.F57V	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	57			F -> C (in CFC syndrome).		activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTGAGAAAGGCTTCCAGC	0.597000													36	104					0	0	0.001485	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730513	15730513	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:15730513C>T	ENST00000441682.2	+	0	527							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCTGCCTTCCATTTCAACAT	0.527000													6	19					0	0	0.001984	0	0
TLL1	7092	broad.mit.edu	37	4	166996071	166996071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:166996071G>A	ENST00000061240.2	+	17	2877	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	TLL1_ENST00000507499.1_Missense_Mutation_p.E767K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	744	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGTCAGCACGAATGTGTCAA	0.393000													48	29					0	0	0.003610	0	0
RPF2	84154	broad.mit.edu	37	6	111346629	111346629	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:111346629C>T	ENST00000441448.2	+	10	857	c.765C>T	c.(763-765)tcC>tcT	p.S255S		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	255						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAAATATTTCCCATGATACTT	0.348000													39	4					0	0	0.001706	0	0
IL7R	3575	broad.mit.edu	37	5	35876293	35876293	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:35876293G>A	ENST00000303115.3	+	8	1214	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	362					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAAAGCTTTGGAAGAGATTCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						15	38					0	0	0.003163	0	0
IGHG2	3501	broad.mit.edu	37	14	106110956	106110956	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:106110956G>A	ENST00000390545.2	-	0	171																											CCTGAGGACTGTAGGACAGCC	0.622000													23	1					0	0	0.002299	0	0
MYO5B	4645	broad.mit.edu	37	18	47369720	47369720	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:47369720G>A	ENST00000285039.7	-	34	4801	c.4502C>T	c.(4501-4503)cCc>cTc	p.P1501L	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.P616L|MYO5B_ENST00000592688.1_Missense_Mutation_p.P71L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1501					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATGTAGGCGGGGAGACAGGG	0.557000													13	55					0	0	0.002450	0	0
MYOC	4653	broad.mit.edu	37	1	171621471	171621471	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:171621471G>A	ENST00000037502.5	-	1	340	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	94					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GCTCTCCAGGGAGCTGAGTCG	0.627000													76	30					0	0	0.003610	0	0
OR5H6	79295	broad.mit.edu	37	3	97983330	97983330	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97983330G>A	ENST00000383696.2	+	1	243	c.202G>A	c.(202-204)Gac>Aac	p.D68N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATCTGGAAAGACCCTCACCT	0.423000													129	76					0	0	0.003610	0	0
OR2L8	391190	broad.mit.edu	37	1	248112650	248112650	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248112650A>C	ENST00000357191.3	+	1	491	c.491A>C	c.(490-492)cAt>cCt	p.H164P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TATGTACTCCATATTCCTTAT	0.478000													17	241					0	0	0.006122	0	0
ABCA4	24	broad.mit.edu	37	1	94544152	94544152	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:94544152C>T	ENST00000370225.3	-	10	1436	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	ABCA4_ENST00000535735.1_Missense_Mutation_p.M450I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	450					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTACTCTGATCATGTTCATCT	0.502000													54	135					0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127827	117127827	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:117127827G>A	ENST00000310357.3	-	3	1062	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	GPRC6A_ENST00000368549.3_Silent_p.P347P|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	347					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)		GACTGTCACTGGGAAGCAAGT	0.383000													46	7					0	0	0.003214	0	0
AQP1	358	broad.mit.edu	37	7	30963205	30963205	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:30963205C>T	ENST00000311813.4	+	4	826	c.771C>T	c.(769-771)gcC>gcT	p.A257A	AQP1_ENST00000409899.1_Silent_p.A142A|AQP1_ENST00000434909.2_Silent_p.A317A|AQP1_ENST00000441328.2_Silent_p.A174A|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Silent_p.A206A|AQP1_ENST00000509504.1_Silent_p.A434A	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				ACCTGGATGCCGACGACATCA	0.637000													5	30					0	0	0.000602	0	0
C1orf127	148345	broad.mit.edu	37	1	11024187	11024187	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:11024187G>C	ENST00000377004.4	-	5	513	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	C1orf127_ENST00000377008.4_Missense_Mutation_p.Q23E	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	23										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCATTACCTGGATGAACATG	0.607000													8	36					0	0	0.004482	0	0
VWC2L	402117	broad.mit.edu	37	2	215440482	215440482	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:215440482G>T	ENST00000312504.5	+	4	1409	c.607G>T	c.(607-609)Ggg>Tgg	p.G203W	VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	203						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGTCACAACGGGGACTGGTG	0.473000													6	164					0.00198382	0.00427134	0.001984	1	0
MYO1H	283446	broad.mit.edu	37	12	109835574	109835574	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:109835574C>T	ENST00000310903.5	+	5	585	c.479C>T	c.(478-480)tCc>tTc	p.S160F	MYO1H_ENST00000431443.2_Missense_Mutation_p.S160F			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AATGACAACTCCAGCAGATTT	0.433000													6	17					0	0	0.001984	0	0
AP2A1	160	broad.mit.edu	37	19	50303356	50303356	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:50303356C>T	ENST00000354293.5	+	11	1570	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	AP2A1_ENST00000359032.5_Silent_p.I468I	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	468					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCTACAGATCGTCACCAACC	0.592000													6	28					0	0	0.001168	0	0
USP6	9098	broad.mit.edu	37	17	5072137	5072137	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:5072137G>A	ENST00000574788.1	+	35	5534	c.3304G>A	c.(3304-3306)Gaa>Aaa	p.E1102K	USP6_ENST00000250066.6_Missense_Mutation_p.E1102K|USP6_ENST00000304328.5_Missense_Mutation_p.E785K|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1102					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTTCTTCGGGAAAGTTTTGA	0.438000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								50	135					0	0	0.003610	0	0
TMEM132A	54972	broad.mit.edu	37	11	60698102	60698102	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:60698102C>T	ENST00000005286.4	+	5	1140	c.987C>T	c.(985-987)caC>caT	p.H329H	TMEM132A_ENST00000453848.2_Silent_p.H329H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	329						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCACCTGCCACCGTGCTGGGC	0.627000													15	42					0	0	0.003163	0	0
ZNF716	441234	broad.mit.edu	37	7	57510020	57510020	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:57510020G>A	ENST00000420713.1	+	1	138	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGACCCCCTGGAAGCCGAGAA	0.572000													17	16					0	0	0.001216	0	0
MFSD12	126321	broad.mit.edu	37	19	3547300	3547300	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:3547300C>T	ENST00000355415.2	-	6	1162	c.993G>A	c.(991-993)atG>atA	p.M331I	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.M331I|MFSD12_ENST00000398558.4_Missense_Mutation_p.M331I	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	331					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TGATGGGCTTCATGAGGAAGG	0.627000													39	61					0	0	0.003214	0	0
MAPK10	5602	broad.mit.edu	37	4	86985430	86985430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:86985430C>A	ENST00000395169.3	-	11	1705	c.985G>T	c.(985-987)Gaa>Taa	p.E329*	MAPK10_ENST00000395160.3_Nonsense_Mutation_p.E222*|MAPK10_ENST00000395157.3_Nonsense_Mutation_p.E222*|MAPK10_ENST00000359221.3_Nonsense_Mutation_p.E367*|MAPK10_ENST00000449047.2_Nonsense_Mutation_p.E222*|MAPK10_ENST00000395161.2_Nonsense_Mutation_p.E367*|MAPK10_ENST00000395166.1_Nonsense_Mutation_p.E329*|MAPK10_ENST00000361569.2_Nonsense_Mutation_p.E367*	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	367	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GCCTCCACTTCGGCTGGGTCA	0.443000													29	78					3.03874e-20	6.61408e-20	0.003271	1	0
KCNB2	9312	broad.mit.edu	37	8	73480294	73480294	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:73480294C>T	ENST00000523207.1	+	2	913	c.325C>T	c.(325-327)Cat>Tat	p.H109Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	109					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGGGAAACTCCATATGATGGA	0.453000													27	68					0	0	0.001061	0	0
OR51T1	401665	broad.mit.edu	37	11	4903372	4903372	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4903372C>T	ENST00000380378.1	+	1	324	c.324C>T	c.(322-324)ccC>ccT	p.P108P	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.P81P|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	81					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)		CGACCCTTCCCACTGTGCTTG	0.458000													27	45					0	0	0.001061	0	0
OR8D1	283159	broad.mit.edu	37	11	124180491	124180491	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:124180491G>A	ENST00000357821.2	-	1	242	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TAGTACATGGGGGTGTGAAGT	0.493000													37	30					0	0	0.004878	0	0
DIP2B	57609	broad.mit.edu	37	12	51108322	51108322	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:51108322C>T	ENST00000301180.5	+	23	2828	c.2794C>T	c.(2794-2796)Ctc>Ttc	p.L932F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	932						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTGCAACATCCTCATGTGCCC	0.468000													33	28					0	0	0.002836	0	0
SYNJ2	8871	broad.mit.edu	37	6	158507974	158507974	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:158507974C>T	ENST00000355585.4	+	23	3371	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L	SYNJ2_ENST00000367121.3_Missense_Mutation_p.P1099L|SYNJ2_ENST00000367112.1_Missense_Mutation_p.P184L|SYNJ2_ENST00000367122.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1099	Pro-rich.						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)		CTGTCGGTCCCCAACCGGCCT	0.652000													13	14					0	0	0.001855	0	0
CHST11	50515	broad.mit.edu	37	12	105151090	105151090	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:105151090G>A	ENST00000303694.5	+	3	1007	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CHST11_ENST00000549260.1_Missense_Mutation_p.E185K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	190					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGAGCCCTTCGAGAGGCTAGT	0.532000													11	27					0	0	0.001368	0	0
TNNC1	7134	broad.mit.edu	37	3	52485777	52485777	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:52485777G>A	ENST00000232975.3	-	4	354	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	100	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	ACATGCGGAAGAGGTCAGACA	0.557000													17	43					0	0	0.006122	0	0
TMEM248	55069	broad.mit.edu	37	7	66416045	66416045	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:66416045C>T	ENST00000341567.4	+	5	958	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_017994.4	NP_060464.1			transmembrane protein 248																		AGATTACAATCCTTTCTGGTG	0.443000													26	80					0	0	0.003954	0	0
KCNV1	27012	broad.mit.edu	37	8	110984918	110984918	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110984918C>G	ENST00000524391.1	-	3	1592	c.560G>C	c.(559-561)gGa>gCa	p.G187A	KCNV1_ENST00000297404.1_Missense_Mutation_p.G187A			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGACAAGGTCCTTGGGAGAA	0.473000													25	68					0	0	0.003330	0	0
LIPI	149998	broad.mit.edu	37	21	15561462	15561462	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:15561462T>C	ENST00000344577.2	-	2	413	c.388A>G	c.(388-390)Att>Gtt	p.I130V	LIPI_ENST00000536861.1_Missense_Mutation_p.I109V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	109					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCTACTACAATTACATTCATA	0.388000													39	25					0	0	0.004289	0	0
CFAP221	200373	broad.mit.edu	37	2	120383233	120383233	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:120383233G>A	ENST00000602047.1	+	16	1739	c.627G>A	c.(625-627)aaG>aaA	p.K209K	PCDP1_ENST00000413369.3_Silent_p.K495K|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		495						cilium	calmodulin binding					Colorectal(110;0.196)					TACTGAGAAAGATTGGCCAAG	0.428000													5	22					0	0	0.001168	0	0
TENM1	10178	broad.mit.edu	37	X	123870807	123870807	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:123870807C>T	ENST00000422452.2	-	4	839	c.776_splice	c.e4+1	p.R259_splice	TENM1_ENST00000371130.3_Splice_Site_p.R259_splice	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCTCAAGTACCTGGTCTCCAA	0.493000													74	12					0	0	0.003610	0	0
KDR	3791	broad.mit.edu	37	4	55972864	55972864	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:55972864C>T	ENST00000263923.4	-	11	1821	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	509	Ig-like C2-type 5.				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)	TTTGTTTTTTCCTTCAATTAG	0.323000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	20					0	0	0.000602	0	0
ZNF462	58499	broad.mit.edu	37	9	109688951	109688951	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:109688951C>T	ENST00000277225.5	+	3	3047	c.2758C>T	c.(2758-2760)Cac>Tac	p.H920Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.H920Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	920					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAACTTTGATCACTCGGACCT	0.488000													71	8					0	0	0.003610	0	0
ITPKC	80271	broad.mit.edu	37	19	41245275	41245275	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:41245275C>T	ENST00000263370.2	+	7	1895	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	621						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTAGGCAGCTCCCTCCTCTTC	0.632000													24	28					0	0	0.003954	0	0
NLRC3	197358	broad.mit.edu	37	16	3614585	3614585	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:3614585G>A	ENST00000301749.7	-	0	758				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCCTGGCGGGGTGCCCGCC	0.706000													16	31					0	0	0.006122	0	0
OR1L1	26737	broad.mit.edu	37	9	125424312	125424312	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:125424312C>T	ENST00000373686.1	+	1	468	c.468C>T	c.(466-468)gcC>gcT	p.A156A				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTTTCTTAGCCTTTGGAAACA	0.438000													48	73					0	0	0.003610	0	0
STAC	6769	broad.mit.edu	37	3	36545919	36545919	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:36545919C>T	ENST00000273183.3	+	7	1101	c.801C>T	c.(799-801)ttC>ttT	p.F267F	STAC_ENST00000457375.2_Silent_p.F206F|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	267					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTGATGATTTCAGAGATCCAG	0.408000													16	28					0	0	0.000958	0	0
DPPA3	359787	broad.mit.edu	37	12	7867946	7867946	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:7867946G>A	ENST00000345088.2	+	2	367	c.250G>A	c.(250-252)Gga>Aga	p.G84R		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	84						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGCAGGAGAGGAGTAAGAAC	0.493000													8	30					0	0	0.000443	0	0
DERA	51071	broad.mit.edu	37	12	16109941	16109941	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:16109941C>T	ENST00000428559.2	+	2	315	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	DERA_ENST00000532964.1_Missense_Mutation_p.R35C|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	35					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AATCCAGGCTCGCAGAACCGT	0.458000													31	19					0	0	0.003271	0	0
DCST2	127579	broad.mit.edu	37	1	155005649	155005649	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:155005649G>A	ENST00000368424.3	-	2	418	c.360C>T	c.(358-360)agC>agT	p.S120S	DCST2_ENST00000295536.5_Silent_p.S120S	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	120						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			CTACAGCCTCGCTGGCCCGGG	0.622000													10	17					0	0	0.000443	0	0
DNAH5	1767	broad.mit.edu	37	5	13692194	13692194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13692194G>A	ENST00000265104.4	-	79	13878	c.13774C>T	c.(13774-13776)Cga>Tga	p.R4592*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4592					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4592*(1)		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)					AAGTCCGTTCGAACTGGCTTC	0.468000									Kartagener syndrome				14	36					0	0	0.002450	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998608	112998608	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:112998608C>T	ENST00000271277.6	+	6	719	c.494C>T	c.(493-495)tCt>tTt	p.S165F		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	165						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAGCTCTCTAGTCAGCTG	0.443000													13	39					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9075484	9075484	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9075484C>T	ENST00000397910.4	-	3	12165	c.11962G>A	c.(11962-11964)Gaa>Aaa	p.E3988K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3990	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						ATTGCTTGTTCCCTGGTGGAG	0.488000													31	28					0	0	0.002096	0	0
AZU1	566	broad.mit.edu	37	19	830878	830878	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:830878G>A	ENST00000233997.2	+	4	552	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	177	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCCCCGAGGACCAGTGTC	0.667000													18	30					0	0	0.002299	0	0
ABI3	51225	broad.mit.edu	37	17	47299496	47299496	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:47299496C>T	ENST00000225941.1	+	7	1344	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ABI3_ENST00000419580.2_Silent_p.P276P	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	282	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CTCCTCCACCCCTGGATGGAG	0.592000										HNSCC(55;0.14)			41	68					0	0	0.003214	0	0
ZNF30	90075	broad.mit.edu	37	19	35435022	35435022	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:35435022C>T	ENST00000439785.1	+	5	1599	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZNF30_ENST00000426813.2_Silent_p.A303A|ZNF30_ENST00000601142.1_Silent_p.A384A|ZNF30_ENST00000303586.7_Silent_p.A385A|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TCAGTCGTGCCTCATATCTTG	0.478000													8	27					0	0	0.004482	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143423	61143423	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:61143423C>T	ENST00000475015.1	-	0	915				C20orf166-AS1_ENST00000412495.1_RNA																							GGGGCCTGGTCACAGCTGCTC	0.652000													29	39					0	0	0.001512	0	0
RGPD4	285190	broad.mit.edu	37	2	108487866	108487866	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:108487866G>A	ENST00000408999.3	+	20	3483	c.3406G>A	c.(3406-3408)Gat>Aat	p.D1136N	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1136N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1136	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTCAGCCAGTGATTTCTCTGA	0.433000													178	9					0	0	0.003610	0	0
PROM2	150696	broad.mit.edu	37	2	95944534	95944534	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:95944534T>C	ENST00000317620.9	+	9	1247		c.e9+2		PROM2_ENST00000317668.4_Splice_Site|PROM2_ENST00000403131.2_Splice_Site|PROM2_ENST00000542147.1_Splice_Site	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2							apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGGTGCAAGGTTAGGCCACAC	0.632000													22	36					0	0	0.003954	0	0
PDE4A	5141	broad.mit.edu	37	19	10557018	10557018	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:10557018C>T	ENST00000380702.2	+	3	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	PDE4A_ENST00000592685.1_Missense_Mutation_p.R127C|PDE4A_ENST00000440014.2_Missense_Mutation_p.R88C|PDE4A_ENST00000352831.6_Missense_Mutation_p.R149C|PDE4A_ENST00000293683.5_Missense_Mutation_p.R123C			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	149					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTTCCTGTACCGCTCAGACAG	0.662000													11	19					0	0	0.001855	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794391	15794391	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:15794391C>T	ENST00000550308.1	+	7	1116	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	CYP4F12_ENST00000324632.9_Silent_p.L246L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CATGGACTTTCTGTATTACCT	0.582000													45	53					0	0	0.003610	0	0
ESRRG	2104	broad.mit.edu	37	1	216692542	216692542	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:216692542C>T	ENST00000391890.3	-	8	1553	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	ESRRG_ENST00000361525.3_Missense_Mutation_p.E339K|ESRRG_ENST00000487276.1_Missense_Mutation_p.E339K|ESRRG_ENST00000408911.3_Missense_Mutation_p.E362K|ESRRG_ENST00000361395.2_Missense_Mutation_p.E339K|ESRRG_ENST00000366940.2_Missense_Mutation_p.E339K|ESRRG_ENST00000359162.2_Missense_Mutation_p.E339K|ESRRG_ENST00000493603.1_Missense_Mutation_p.E339K|ESRRG_ENST00000360012.3_Missense_Mutation_p.E339K|ESRRG_ENST00000366938.2_Missense_Mutation_p.E339K|ESRRG_ENST00000463665.1_Missense_Mutation_p.E300K|ESRRG_ENST00000493748.1_Missense_Mutation_p.E339K|ESRRG_ENST00000366937.1_Missense_Mutation_p.E374K	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	362					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTTCTTTTTCCAGCTTCATG	0.358000													46	11					0	0	0.003610	0	0
OTOGL	283310	broad.mit.edu	37	12	80647257	80647257	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:80647257G>A	ENST00000458043.2	+	13	1276	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D424N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCTCGTAATGGACAATGGGAC	0.328000													19	51					0	0	0.001882	0	0
TTC39C	125488	broad.mit.edu	37	18	21649157	21649157	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:21649157C>T	ENST00000317571.3	+	4	618	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	TTC39C_ENST00000304621.6_Missense_Mutation_p.R67W|TTC39C_ENST00000578150.1_Intron	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	128							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TATGGTTGATCGGCTTCAGAG	0.428000													25	99					0	0	0.002096	0	0
LRP1B	53353	broad.mit.edu	37	2	141243011	141243011	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:141243011C>G	ENST00000389484.3	-	59	10297	c.9326G>C	c.(9325-9327)aGa>aCa	p.R3109T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3109					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3109I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCAATGATTCTTTTTTCTGT	0.408000										TSP Lung(27;0.18)			13	29					0	0	0.001855	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505617	44505617	+	Silent	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:44505617T>C	ENST00000255152.2	+	2	629	c.420T>C	c.(418-420)acT>acC	p.T140T	ZSWIM3_ENST00000454862.2_Silent_p.T134T	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	140							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACCTTGACACTGCCGAGAAGT	0.522000													34	31					0	0	0.003271	0	0
DENR	8562	broad.mit.edu	37	12	123238315	123238315	+	Silent	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:123238315T>C	ENST00000280557.6	+	2	253	c.67T>C	c.(67-69)Tta>Cta	p.L23L	DENR_ENST00000455982.2_Silent_p.L23L	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	23							protein binding|translation initiation factor activity			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		CAGTGCCAAGTTAGATGCCGA	0.438000													12	31					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179614967	179614967	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179614967C>T	ENST00000360870.5	-	46	12382	c.12160G>A	c.(12160-12162)Gat>Aat	p.D4054N	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3445							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)			TCTTCCTCATCCAAGTAGTCA	0.383000													24	55					0	0	0.003954	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673327	25673327	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:25673327G>A	ENST00000382051.3	+	9	1082	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	SLC34A2_ENST00000503434.1_Silent_p.K343K|SLC34A2_ENST00000504570.1_Silent_p.K343K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	344					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGACCTACAAGGAGAACATCG	0.502000			T	ROS1	NSCLC								98	50					0	0	0.003610	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121832	62121832	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:62121832C>T	ENST00000217182.3	-	6	1194	c.1029_splice	c.e6+1	p.Q343_splice	EEF1A2_ENST00000298049.7_Splice_Site_p.Q343_splice	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	343						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGCCCCCCACCTGGGAGGTGA	0.672000													13	40					0	0	0.004990	0	0
ZNF16	7564	broad.mit.edu	37	8	146157776	146157776	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:146157776C>T	ENST00000276816.4	-	4	583	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E133K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	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)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AAGTCCCCCTCCTGGGAGAGG	0.572000													28	67					0	0	0.005443	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997664	19997664	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:19997664C>T	ENST00000391403.2	-	1	214	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	37						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAGCCGACTCGTAACTGATC	0.373000													22	30					0	0	0.002299	0	0
OR4A5	81318	broad.mit.edu	37	11	51411655	51411655	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:51411655A>T	ENST00000319760.6	-	1	793	c.741T>A	c.(739-741)ttT>ttA	p.F247L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	247					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)				AGGGTACAAAAAAGAGGACAA	0.413000													17	45					0	0	0.004007	0	0
CDON	50937	broad.mit.edu	37	11	125864879	125864879	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:125864879G>A	ENST00000392693.3	-	13	2558	c.2431C>T	c.(2431-2433)Cgt>Tgt	p.R811C	CDON_ENST00000263577.7_Missense_Mutation_p.R811C|CDON_ENST00000531738.1_Missense_Mutation_p.R188C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	811	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGATAAGGACGAGATGCTGAA	0.433000													22	51					0	0	0.003330	0	0
PLCL2	23228	broad.mit.edu	37	3	17051295	17051295	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:17051295C>T	ENST00000418129.2	+	2	544	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	PLCL2_ENST00000396755.2_Missense_Mutation_p.R27C|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.R27C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	153	Gly-rich.				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						CAAAAAGGTTCGCTCCAACTC	0.418000													17	11					0	0	0.004990	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993371	140993371	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:140993371G>A	ENST00000285879.4	+	4	467	c.181G>A	c.(181-183)Gag>Aag	p.E61K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	61							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGAGGGGGAGGACTCCTC	0.607000										HNSCC(15;0.026)			22	10					0	0	0.002299	0	0
OR4C3	256144	broad.mit.edu	37	11	48346522	48346522	+	Silent	SNP	C	C	T	rs140779640	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:48346522C>T	ENST00000319856.4	+	1	51	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	163					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						TTATGTTTCTCCTTGTCTTTA	0.373000													32	89					0	0	0.002836	0	0
ABL1	25	broad.mit.edu	37	9	133755918	133755918	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:133755918C>T	ENST00000318560.5	+	10	1926	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	515					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AACAAGGCGTCCGTGGGGCTG	0.562000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								17	17					0	0	0.000958	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256124	140256124	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140256124C>T	ENST00000398631.2	+	1	1067	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCACTGTCGCTCCCTGTG	0.517000													40	5					0	0	0.001485	0	0
ALOX12	239	broad.mit.edu	37	17	6909835	6909835	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:6909835C>T	ENST00000251535.6	+	11	1502	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	483	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ACCTCTTCTACCAAAGGGATG	0.607000													27	56					0	0	0.005443	0	0
GPR108	56927	broad.mit.edu	37	19	6733304	6733304	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6733304G>A	ENST00000264080.7	-	9	758	c.732C>T	c.(730-732)atC>atT	p.I244I	GPR108_ENST00000430424.4_Silent_p.I2I	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	244						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCTTCTCCCGGATCATCACCT	0.652000													10	42					0	0	0.000978	0	0
C3	718	broad.mit.edu	37	19	6714368	6714368	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6714368G>A	ENST00000245907.6	-	5	686	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	198					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CATACTTGACGAGTTCCGGAA	0.617000													26	43					0	0	0.001271	0	0
MYH1	4619	broad.mit.edu	37	17	10408762	10408762	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:10408762C>T	ENST00000226207.5	-	20	2335	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	747	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						CCAGGAGCTTCTCTGAAGCCT	0.413000													23	42					0	0	0.002780	0	0
OR10J3	441911	broad.mit.edu	37	1	159283492	159283492	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:159283492C>T	ENST00000332217.5	-	1	957	c.958G>A	c.(958-960)Ggc>Agc	p.G320S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGGAAAAGCCTTCACAACCT	0.398000													16	104					0	0	0.004990	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													6	22					0	0	0.001984	0	0
PRPF3	9129	broad.mit.edu	37	1	150318499	150318499	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:150318499G>A	ENST00000324862.6	+	13	1811	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.R500Q	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	549					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TCCAGAGTTCGAAATTTGAGC	0.453000													268	101					0	0	0.003610	0	0
PPP1R7	5510	broad.mit.edu	37	2	242105766	242105766	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:242105766C>T	ENST00000234038.6	+	8	1203	c.729C>T	c.(727-729)acC>acT	p.T243T	PPP1R7_ENST00000272983.8_Silent_p.T200T|PPP1R7_ENST00000407025.1_Silent_p.T243T|PPP1R7_ENST00000406106.3_Silent_p.T243T|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000404405.3_Silent_p.T237T|PPP1R7_ENST00000402734.1_Silent_p.T184T|PPP1R7_ENST00000401987.1_Silent_p.T200T	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	243						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ACCGGCTGACCAAGATCGAGG	0.507000													8	35					0	0	0.004482	0	0
NFASC	23114	broad.mit.edu	37	1	204943936	204943936	+	Missense_Mutation	SNP	C	C	T	rs149731085		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:204943936C>T	ENST00000367172.4	+	14	1871	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C	NFASC_ENST00000367170.4_Missense_Mutation_p.R515C|NFASC_ENST00000539706.1_Missense_Mutation_p.R526C|NFASC_ENST00000401399.1_Missense_Mutation_p.R515C|NFASC_ENST00000367171.4_Missense_Mutation_p.R515C|NFASC_ENST00000513543.1_Missense_Mutation_p.R526C|NFASC_ENST00000367169.4_Missense_Mutation_p.R515C|NFASC_ENST00000338586.6_Missense_Mutation_p.R515C|NFASC_ENST00000339876.6_Missense_Mutation_p.R515C|NFASC_ENST00000338515.6_Missense_Mutation_p.R515C|NFASC_ENST00000403080.1_Missense_Mutation_p.R515C|NFASC_ENST00000404907.1_Missense_Mutation_p.R526C|NFASC_ENST00000404076.1_Missense_Mutation_p.R509C|NFASC_ENST00000360049.4_Missense_Mutation_p.R526C			O94856	NFASC_HUMAN	neurofascin	515	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAACCAAGTCCGCCTGGAGGT	0.512000													10	97					0	0	0.000978	0	0
MNDA	4332	broad.mit.edu	37	1	158812064	158812064	+	Missense_Mutation	SNP	G	G	A	rs144926525		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158812064G>A	ENST00000368141.4	+	2	382	c.121G>A	c.(121-123)Gag>Aag	p.E41K	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	41	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAAATGCAAGAGGAATACAA	0.343000													68	27					0	0	0.003610	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280807	105280807	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:105280807G>A	ENST00000327674.4	-	1	578	c.243C>T	c.(241-243)tcC>tcT	p.S81S	SERPINA7_ENST00000372563.1_Silent_p.S81S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	81					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGGCCCCAAAGGAAAGCATAA	0.498000													19	2					0	0	0.000958	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500846	149500846	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:149500846G>A	ENST00000261799.4	-	17	2853	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	795	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCACTGGAGACTCGTTGAT	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								13	35					0	0	0.001368	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189528	92189528	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:92189528G>A	ENST00000256343.3	-	4	330	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	58					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAACACTGGATTTTCTTTA	0.348000													14	5					0	0	0.001855	0	0
TACC3	10460	broad.mit.edu	37	4	1742603	1742603	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:1742603C>T	ENST00000313288.4	+	13	2219	c.2113C>T	c.(2113-2115)Cta>Tta	p.L705L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	705						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCAGAAAGTTCTAAAAGAAAA	0.433000													36	29					0	0	0.002836	0	0
CSMD1	64478	broad.mit.edu	37	8	3081279	3081279	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:3081279C>T	ENST00000520002.1	-	29	5014	c.4459G>A	c.(4459-4461)Gac>Aac	p.D1487N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D1486N|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1486N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1487N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1486N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1487N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1487N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1487	CUB 9.					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)		ATGACAAAGTCCGGGTTCACT	0.428000													46	15					0	0	0.003610	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34093290	34093290	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:34093290C>T	ENST00000341394.4	+	3	423	c.234C>T	c.(232-234)taC>taT	p.Y78Y	CAPRIN1_ENST00000532820.1_Silent_p.Y78Y|CAPRIN1_ENST00000389645.3_Silent_p.Y78Y|CAPRIN1_ENST00000530820.1_Silent_p.Y78Y|CAPRIN1_ENST00000529307.1_5'UTR	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	78					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTGATGATTACCAGGAACGAA	0.328000													11	24					0	0	0.001855	0	0
HOXA3	3200	broad.mit.edu	37	7	27147911	27147911	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:27147911A>T	ENST00000396352.4	-	3	1154	c.955T>A	c.(955-957)Tgc>Agc	p.C319S	HOXA3_ENST00000317201.2_Missense_Mutation_p.C319S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	319					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGGGGTGCGCAGCTGGGCAGG	0.741000													12	13					0	0	0.001855	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004635	75004635	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:75004635G>A	ENST00000373359.2	-	1	444	c.252C>T	c.(250-252)gtC>gtT	p.V84V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	84										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGGTCATGGACCCTGAGCG	0.542000													27	0					0	0	0.002445	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180532	142180532	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:142180532G>A	ENST00000390368.2	-	0	392																											TGCTGGCACAGAAGTACACAG	0.572000													157	168					0	0	0.003610	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663112	22663112	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:22663112C>T	ENST00000426066.1	+	0	551					NR_027293.1																						TGGATAAATCCATAAAAATTG	0.289000													17	36					0	0	0.000958	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982509	7982509	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:7982509G>A	ENST00000543909.1	-	10	1194	c.435C>T	c.(433-435)atC>atT	p.I145I	SLC2A14_ENST00000535295.1_Silent_p.I36I|SLC2A14_ENST00000539924.1_Silent_p.I160I|SLC2A14_ENST00000340749.5_Silent_p.I122I|SLC2A14_ENST00000542546.1_Silent_p.I36I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Silent_p.I145I|SLC2A14_ENST00000431042.2_Silent_p.I122I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	145					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGCGGCCCAGGATCAGCATTT	0.522000													33	16					0	0	0.002836	0	0
MECOM	2122	broad.mit.edu	37	3	168833255	168833255	+	Missense_Mutation	SNP	C	C	T	rs139044661		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:168833255C>T	ENST00000464456.1	-	7	3041	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	MECOM_ENST00000460814.1_Missense_Mutation_p.G614E|MECOM_ENST00000433243.2_Missense_Mutation_p.G615E|MECOM_ENST00000392736.3_Missense_Mutation_p.G614E|MECOM_ENST00000494292.1_Missense_Mutation_p.G802E|MECOM_ENST00000264674.3_Missense_Mutation_p.G679E|MECOM_ENST00000472280.1_Missense_Mutation_p.G615E|MECOM_ENST00000468789.1_Missense_Mutation_p.G614E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	23							sequence-specific DNA binding transcription factor activity	p.G614E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GACGTTGCTTCCTTTTTTTCC	0.488000													31	15					0	0	0.001512	0	0
SFMBT2	57713	broad.mit.edu	37	10	7213013	7213013	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:7213013C>T	ENST00000361972.4	-	20	2511	c.2421G>A	c.(2419-2421)acG>acA	p.T807T	SFMBT2_ENST00000397167.1_Silent_p.T807T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	807					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						CCTCCTGTTTCGTGTCCTGCA	0.617000													27	43					0	0	0.001061	0	0
TAB1	10454	broad.mit.edu	37	22	39824104	39824104	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:39824104C>T	ENST00000216160.6	+	10	1285	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	TAB1_ENST00000331454.3_Missense_Mutation_p.S408F	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	408					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GTGACCCTCTCCCTTGTCATG	0.622000													48	4					0	0	0.003610	0	0
PLIN4	729359	broad.mit.edu	37	19	4511419	4511419	+	Silent	SNP	C	C	T	rs71263980		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:4511419C>T	ENST00000301286.3	-	3	2510	c.2511G>A	c.(2509-2511)ctG>ctA	p.L837L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	837	27 X 33 AA approximate tandem repeat.			GLKTTQNIA -> SVDTTKTVL (in Ref. 2; BAB67774).		lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGGTCGTTTTCAGCCCAGTTT	0.607000													22	84					0	0	0.003954	0	0
IL27	246778	broad.mit.edu	37	16	28515112	28515112	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:28515112C>T	ENST00000356897.1	-	3	229	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	69					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTGAGATTCCGCCTGGGGGG	0.632000													11	22					0	0	0.001368	0	0
BCAS1	8537	broad.mit.edu	37	20	52591936	52591936	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:52591936C>T	ENST00000395961.3	-	8	1340	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000371435.2_Missense_Mutation_p.E392K|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	392						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACATTCTCCTCCGCACCTGTG	0.413000													25	27					0	0	0.001271	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458861	25458861	+	RNA	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:25458861G>A	ENST00000424208.1	+	0	2694				SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGCTCAATAGGATTACGCTGA	0.493000													49	116					0	0	0.003610	0	0
SPESP1	246777	broad.mit.edu	37	15	69238462	69238462	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:69238462G>A	ENST00000310673.3	+	2	743	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	197					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TACAGAATCAGAAGATGTTCC	0.398000													56	71					0	0	0.003610	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27499704	27499704	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:27499704C>T	ENST00000296097.3	+	3	526	c.108C>T	c.(106-108)tcC>tcT	p.S36S	DNAJC5G_ENST00000404433.1_Silent_p.S36S|DNAJC5G_ENST00000402462.1_Silent_p.S36S|DNAJC5G_ENST00000406962.1_Silent_p.S36S	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	36	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAAAAATCCTACAGGTTCA	0.428000													8	24					0	0	0.004482	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834823	27834823	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:27834823G>A	ENST00000331442.3	-	1	536	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	162					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGCCGCCGCGGGCTTCTTCGC	0.597000													56	152					0	0	0.003610	0	0
EXOC6B	23233	broad.mit.edu	37	2	72786584	72786584	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:72786584G>A	ENST00000272427.6	-	8	1043	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	EXOC6B_ENST00000410104.1_Silent_p.L305L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	305					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AGACTCACCAGGACAGAATAT	0.358000													9	21					0	0	0.000673	0	0
ZNF516	9658	broad.mit.edu	37	18	74154915	74154915	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:74154915G>A	ENST00000443185.2	-	3	413	c.96C>T	c.(94-96)acC>acT	p.T32T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGTGTGGCAGGTAGCCTTGT	0.652000													7	39					0	0	0.004482	0	0
HCAR2	338442	broad.mit.edu	37	12	123187121	123187121	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:123187121G>A	ENST00000328880.5	-	1	769	c.710C>T	c.(709-711)gCc>gTc	p.A237V	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	237					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AAAGACGATGGCCACCACCAT	0.547000													16	36					0	0	0.006122	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451964	100451964	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:100451964G>A	ENST00000279907.7	-	14	3303	c.3091C>T	c.(3091-3093)Ctt>Ttt	p.L1031F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.L681F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1031										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTACTTGAAAGTATGTTTTGA	0.323000													13	45					0	0	0.001855	0	0
RSF1	51773	broad.mit.edu	37	11	77409717	77409717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:77409717G>A	ENST00000308488.6	-	7	2832	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.R592*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R813*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	844					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R844*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGTCCATCGAACTTTGCCT	0.368000													31	76					0	0	0.004289	0	0
PCED1B	91523	broad.mit.edu	37	12	47629084	47629084	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:47629084C>T	ENST00000546455.1	+	4	969	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	PCED1B_ENST00000432328.1_Missense_Mutation_p.R80C					PC-esterase domain containing 1B																		CCGTGAGGTCCGCGAGTTCCG	0.582000													22	70					0	0	0.001882	0	0
C1orf173	127254	broad.mit.edu	37	1	75037406	75037406	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:75037406C>T	ENST00000326665.5	-	14	4206	c.3988G>A	c.(3988-3990)Gag>Aag	p.E1330K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1330	Glu-rich.									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						CCCATGCCCTCATTCTTTTGT	0.557000													29	36					0	0	0.001512	0	0
ESPL1	9700	broad.mit.edu	37	12	53683298	53683298	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:53683298C>T	ENST00000257934.4	+	22	5124	c.5033C>T	c.(5032-5034)tCc>tTc	p.S1678F	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1678F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1678					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGCCTCTTTTCCTTCAGGGCT	0.597000													39	25					0	0	0.001287	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584081	11584081	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:11584081C>T	ENST00000294484.6	+	11	2583	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	PTCHD2_ENST00000389575.3_Silent_p.P815P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	815					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)		CAGGGGTCCCCTGGGCTAGCC	0.657000													12	47					0	0	0.002450	0	0
DUSP10	11221	broad.mit.edu	37	1	221875800	221875800	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:221875800G>T	ENST00000366899.3	-	4	1641	c.1403C>A	c.(1402-1404)cCg>cAg	p.P468Q	DUSP10_ENST00000544095.1_Missense_Mutation_p.P126Q|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.P126Q	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	468					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AAGGATTCTCGGTGTCACACC	0.468000													8	246					0.000442599	0.000956712	0.000443	1	0
HERC1	8925	broad.mit.edu	37	15	64005677	64005677	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:64005677G>A	ENST00000443617.2	-	23	4425	c.4338C>T	c.(4336-4338)atC>atT	p.I1446I	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1446					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACACCGATGGATCACGGAGT	0.507000													36	49					0	0	0.001706	0	0
PLXNA1	5361	broad.mit.edu	37	3	126722195	126722195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:126722195C>T	ENST00000393409.2	+	3	1400	c.1400C>T	c.(1399-1401)cCc>cTc	p.P467L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P444L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	467	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCTCAAACCCCGGTGGCCGG	0.672000													12	36					0	0	0.002450	0	0
SPEN	23013	broad.mit.edu	37	1	16263664	16263664	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:16263664C>T	ENST00000375759.3	+	12	10237	c.10033C>T	c.(10033-10035)Cct>Tct	p.P3345S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3345	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAGGGCCCTCCTCCTGAAGG	0.637000													20	64					0	0	0.001523	0	0
LRP1B	53353	broad.mit.edu	37	2	141214161	141214161	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:141214161G>A	ENST00000389484.3	-	62	10797	c.9826C>T	c.(9826-9828)Ctc>Ttc	p.L3276F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3276					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)		ATCATGCAGAGATGTTTGGAG	0.383000										TSP Lung(27;0.18)			24	39					0	0	0.004656	0	0
TEX14	56155	broad.mit.edu	37	17	56647821	56647821	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:56647821C>A	ENST00000389934.3	-	26	3979	c.3862G>T	c.(3862-3864)Gct>Tct	p.A1288S	TEX14_ENST00000240361.8_Missense_Mutation_p.A1294S|TEX14_ENST00000349033.5_Missense_Mutation_p.A1248S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1294						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGATCCAGCCCCAATAAAT	0.438000													30	91					1.12875e-08	2.44712e-08	0.001061	1	0
TRPM5	29850	broad.mit.edu	37	11	2434027	2434027	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:2434027A>C	ENST00000452833.1	-	15	2326	c.2318T>G	c.(2317-2319)cTc>cGc	p.L773R	TRPM5_ENST00000155858.6_Missense_Mutation_p.L771R|TRPM5_ENST00000528453.1_Missense_Mutation_p.L771R|TRPM5_ENST00000533060.1_Missense_Mutation_p.L771R			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	771						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGAAGTAGAGGGTGACCTC	0.622000													76	160					0	0	0.003610	0	0
PRKCA	5578	broad.mit.edu	37	17	64785059	64785059	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:64785059G>A	ENST00000413366.3	+	16	1842	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	606	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGAAAAACTGGAGAACAGGGA	0.567000													17	40					0	0	0.001216	0	0
OBSCN	84033	broad.mit.edu	37	1	228469851	228469851	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:228469851G>A	ENST00000570156.2	+	36	9776	c.9702G>A	c.(9700-9702)ggG>ggA	p.G3234G	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G2805G|OBSCN_ENST00000359599.6_Silent_p.G1652G|OBSCN_ENST00000284548.11_Silent_p.G2805G|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2268	Ig-like 32.				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)				GTGATGCCGGGGAGGTGGTCT	0.642000													6	52					0	0	0.004482	0	0
SHMT1	6470	broad.mit.edu	37	17	18233963	18233963	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:18233963G>A	ENST00000316694.3	-	10	1211	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	SHMT1_ENST00000352886.6_Silent_p.I279I|SHMT1_ENST00000354098.3_Silent_p.I320I|SHMT1_ENST00000539052.1_Silent_p.I221I	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	359					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GATCCACAAGGATCAAATGGT	0.488000													15	27					0	0	0.003163	0	0
ABCA12	26154	broad.mit.edu	37	2	215928822	215928822	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:215928822C>T	ENST00000272895.7	-	3	503	c.284G>A	c.(283-285)aGg>aAg	p.R95K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	95					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AATTCCTTTCCTACGAAGCAG	0.438000													33	77					0	0	0.004289	0	0
PDZD2	23037	broad.mit.edu	37	5	31995685	31995685	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:31995685G>A	ENST00000438447.1	+	4	1370	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E328K			O15018	PDZD2_HUMAN	PDZ domain containing 2	328					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						TTCCAAGGAGGAAGTTGGCCG	0.517000													32	121					0	0	0.002852	0	0
SNTG2	54221	broad.mit.edu	37	2	1079206	1079206	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:1079206G>A	ENST00000308624.5	+	2	204	c.75G>A	c.(73-75)acG>acA	p.T25T	SNTG2_ENST00000407292.1_Silent_p.T25T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	25					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.T25T(1)		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)		CCCTACAGACGAAAACCACTA	0.478000													15	68					0	0	0.001216	0	0
ABCA8	10351	broad.mit.edu	37	17	66871498	66871498	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:66871498C>T	ENST00000269080.2	-	35	4551	c.4414G>A	c.(4414-4416)Gat>Aat	p.D1472N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1512N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1512N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1472	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGCAGGTAATCTTTGCCAAAT	0.468000													16	45					0	0	0.004990	0	0
DNAH5	1767	broad.mit.edu	37	5	13842003	13842003	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13842003C>T	ENST00000265104.4	-	33	5386	c.5282G>A	c.(5281-5283)cGa>cAa	p.R1761Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1761	Stem (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)					TGACAGAATTCGATCATAGAT	0.328000									Kartagener syndrome				20	22					0	0	0.001523	0	0
MYO3B	140469	broad.mit.edu	37	2	171356173	171356173	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:171356173C>T	ENST00000334231.6	+	27	3171	c.3171C>T	c.(3169-3171)taC>taT	p.Y1057Y	MYO3B_ENST00000409044.3_Silent_p.Y1048Y|MYO3B_ENST00000408978.4_Silent_p.Y1048Y|MYO3B_ENST00000602629.1_Intron			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1048	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCAAATATTACCATGTTGAGC	0.393000													9	35					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179569401	179569401	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179569401G>A	ENST00000589042.1	-	105	30022	c.29798C>T	c.(29797-29799)tCg>tTg	p.S9933L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9616L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8689L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9616	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8689L(1)		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)			TTTGTACCACGAAAGCTTGAT	0.338000													11	18					0	0	0.000673	0	0
CACNG2	10369	broad.mit.edu	37	22	36960549	36960549	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:36960549C>T	ENST00000300105.6	-	4	1802	c.821G>A	c.(820-822)aGc>aAc	p.S274N		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	274					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GGGGTCCCTGCTGAGCGTGTA	0.627000													34	85					0	0	0.005524	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093698	69093698	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:69093698C>T	ENST00000332644.5	-	10	1343	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	394	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTGGCTTATTCTTTTTACCAC	0.393000													17	39					0	0	0.001523	0	0
YLPM1	56252	broad.mit.edu	37	14	75248562	75248562	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:75248562C>T	ENST00000325680.7	+	4	1940	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.P606S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCAGTTCTTCCCCCACCATC	0.597000													72	8					0	0	0.003610	0	0
DNAJC11	55735	broad.mit.edu	37	1	6738476	6738476	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:6738476C>T	ENST00000377577.5	-	3	377	c.254G>A	c.(253-255)gGa>gAa	p.G85E	DNAJC11_ENST00000542246.1_Missense_Mutation_p.G47E|DNAJC11_ENST00000349363.6_Missense_Mutation_p.G47E|DNAJC11_ENST00000294401.7_Missense_Mutation_p.G85E|DNAJC11_ENST00000377573.5_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	85					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTCCAGTCCTCTCTTCCC	0.393000													14	48					0	0	0.004007	0	0
CAPN13	92291	broad.mit.edu	37	2	30993196	30993196	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:30993196C>T	ENST00000295055.8	-	5	683	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Silent_p.L169L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	169	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGCCTTCTCCAGCAGGCAGG	0.567000													35	24					0	0	0.004289	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181945	57181945	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:57181945C>T	ENST00000504228.1	+	6	2382	c.2277C>T	c.(2275-2277)ccC>ccT	p.P759P	KIAA1211_ENST00000541073.1_Silent_p.P752P|KIAA1211_ENST00000264229.6_Silent_p.P759P			Q6ZU35	K1211_HUMAN	KIAA1211	759										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGACAGCCCCCCAGCCTCCTC	0.592000													15	30					0	0	0.002450	0	0
CR1	1378	broad.mit.edu	37	1	207751181	207751181	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:207751181C>T	ENST00000367049.4	+	29	4569	c.4569C>T	c.(4567-4569)gcC>gcT	p.A1523A	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.A1073A|CR1_ENST00000367051.1_Silent_p.A1073A|CR1_ENST00000367053.1_Silent_p.A1073A|CR1_ENST00000400960.2_Silent_p.A1073A|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1073	Sushi 24.				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						CAACCATCGCCAATGGAGATT	0.483000													17	71					0	0	0.006122	0	0
NEXN	91624	broad.mit.edu	37	1	78399027	78399027	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:78399027G>A	ENST00000330010.8	+	9	1219	c.922G>A	c.(922-924)Gga>Aga	p.G308R	NEXN_ENST00000457030.1_Missense_Mutation_p.G358R|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.G372R	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	372	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TCTTACACCGGGAAAACTGGA	0.333000													8	30					0	0	0.003080	0	0
ABLIM3	22885	broad.mit.edu	37	5	148617116	148617116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:148617116C>T	ENST00000506113.1	+	10	1476	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	ABLIM3_ENST00000508983.1_Missense_Mutation_p.H332Y|ABLIM3_ENST00000309868.7_Missense_Mutation_p.H332Y|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	332					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGCCTCATTCCAGATA	0.493000													45	68					0	0	0.003610	0	0
DDX1	1653	broad.mit.edu	37	2	15769735	15769735	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:15769735C>G	ENST00000381341.2	+	25	2274	c.1885C>G	c.(1885-1887)Cat>Gat	p.H629D	DDX1_ENST00000233084.3_Missense_Mutation_p.H629D			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	629	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				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)		GGTTTGGTACCATGTATGTAG	0.353000													13	29					0	0	0.003163	0	0
PRRG1	5638	broad.mit.edu	37	X	37312719	37312719	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:37312719C>T	ENST00000542554.1	+	5	774	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PRRG1_ENST00000449135.2_Missense_Mutation_p.P168S|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Missense_Mutation_p.P168S|PRRG1_ENST00000543642.1_Missense_Mutation_p.P168S	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	168						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CAATTGTGATCCCCCGCCAAC	0.512000													14	7					0	0	0.001855	0	0
TESK2	10420	broad.mit.edu	37	1	45813304	45813304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:45813304G>A	ENST00000372086.3	-	7	1085	c.685C>T	c.(685-687)Cga>Tga	p.R229*	TESK2_ENST00000538496.1_Nonsense_Mutation_p.R146*|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Nonsense_Mutation_p.R229*|TESK2_ENST00000341771.6_Nonsense_Mutation_p.R229*	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	229	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R213*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GGCTCATCTCGGAGAACCTCA	0.463000													30	109					0	0	0.004878	0	0
HECTD4	283450	broad.mit.edu	37	12	112669444	112669444	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:112669444G>A	ENST00000550722.1	-	39	6030	c.5635C>T	c.(5635-5637)Ctc>Ttc	p.L1879F	HECTD4_ENST00000430131.2_Missense_Mutation_p.L1603F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1853F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGACGATGAGGCCTGACTGT	0.547000													27	26					0	0	0.001271	0	0
EDEM3	80267	broad.mit.edu	37	1	184663459	184663459	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:184663459G>A	ENST00000318130.8	-	20	2803	c.2537C>T	c.(2536-2538)tCa>tTa	p.S846L	EDEM3_ENST00000367512.3_Missense_Mutation_p.S819L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	846					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGAGATAATGATTCTGGGTG	0.393000													51	12					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57769720	57769720	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:57769720C>T	ENST00000371030.2	+	1	3646	c.3646C>T	c.(3646-3648)Ctc>Ttc	p.L1216F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1216						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)					TGGTAGCAGCCTCCGAGATGA	0.622000													18	19					0	0	0.006122	0	0
PGBD4	161779	broad.mit.edu	37	15	34396452	34396452	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:34396452C>T	ENST00000397766.2	+	1	2179	c.1720C>T	c.(1720-1722)Ccg>Tcg	p.P574S		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	574										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTGTGTTGTTCCGTGCTTTGA	0.383000													30	28					0	0	0.004289	0	0
GALNT14	79623	broad.mit.edu	37	2	31133871	31133871	+	Missense_Mutation	SNP	C	C	T	rs150328877		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:31133871C>T	ENST00000349752.5	-	15	2194	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.D486N|GALNT14_ENST00000406653.1_Missense_Mutation_p.D499N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D524N|GALNT14_ENST00000420311.2_Missense_Mutation_p.D484N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	519	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATATCTGTATCGAGGCAGAGG	0.507000													50	42					0	0	0.003610	0	0
ADCY10	55811	broad.mit.edu	37	1	167791329	167791329	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:167791329C>T	ENST00000367848.1	-	30	4440	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.E1407K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E1254K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1407					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGTTGTTTTCGTATTGGTGT	0.393000													11	83					0	0	0.000978	0	0
EDC4	23644	broad.mit.edu	37	16	67915273	67915273	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:67915273C>T	ENST00000358933.5	+	20	2981	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	914	Sufficient for nuclear localization.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCAAGGGATCCCCTCGAACCT	0.562000													30	101					0	0	0.001287	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192854	132192854	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:132192854G>A	ENST00000359827.3	-	2	1561	c.599C>T	c.(598-600)tCc>tTc	p.S200F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S200F|PLXNA4_ENST00000423507.2_Missense_Mutation_p.S200F|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S200F			Q9HCM2	PLXA4_HUMAN	plexin A4	200	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTTCCGGCTGGAGATGGTGGG	0.537000													29	123					0	0	0.001512	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300637	110300637	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:110300637C>T	ENST00000369805.3	-	9	993	c.764G>A	c.(763-765)gGa>gAa	p.G255E	EPS8L3_ENST00000361852.4_Missense_Mutation_p.G254E|EPS8L3_ENST00000361965.4_Missense_Mutation_p.G254E|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	254						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)		CTCCAGCTTTCCCATGAACAG	0.547000													36	93					0	0	0.002522	0	0
STON2	85439	broad.mit.edu	37	14	81862461	81862461	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:81862461G>A	ENST00000555447.1	-	4	562	c.150C>T	c.(148-150)tcC>tcT	p.S50S	STON2_ENST00000267540.2_Silent_p.S50S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	50					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTTCTCCCCGGAGGAGCTCT	0.577000													24	2					0	0	0.002299	0	0
ABCC5	10057	broad.mit.edu	37	3	183639172	183639172	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:183639172G>A	ENST00000334444.6	-	30	4470	c.4230C>T	c.(4228-4230)acC>acT	p.T1410T	ABCC5_ENST00000265586.6_Silent_p.T1367T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1410	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGACCGATGGGGTGTCAAACT	0.557000													17	40					0	0	0.006122	0	0
FUT9	10690	broad.mit.edu	37	6	96651602	96651602	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:96651602T>C	ENST00000302103.5	+	3	897	c.571T>C	c.(571-573)Tgg>Cgg	p.W191R		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	191					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATTGGTGTGCTGGGTTGTGAG	0.453000													8	18					0	0	0.003080	0	0
DPEP3	64180	broad.mit.edu	37	16	68014054	68014054	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:68014054G>A	ENST00000268793.4	-	1	678	c.305C>T	c.(304-306)aCc>aTc	p.T102I	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	77					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AAGGTCCAGGGTTTTGGGGGT	0.682000													13	55					0	0	0.004007	0	0
OR6C2	341416	broad.mit.edu	37	12	55846762	55846762	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55846762C>T	ENST00000322678.1	+	1	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GCTGCATCTTCATCTATATCA	0.423000													27	64					0	0	0.005443	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884076	19884076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:19884076G>A	ENST00000300571.2	-	2	283	c.92C>T	c.(91-93)gCc>gTc	p.A31V	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A31V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A31V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A57V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A31V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	31										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGATGTGCTGGCGTTTTCAGA	0.597000													25	38					0	0	0.002780	0	0
IP6K2	51447	broad.mit.edu	37	3	48725997	48725997	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:48725997G>A	ENST00000328631.5	-	6	1213	c.990C>T	c.(988-990)tcC>tcT	p.S330S		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	330					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TGACCAGCAGGGAGCTTGAGT	0.567000													19	40					0	0	0.001523	0	0
CDH8	1006	broad.mit.edu	37	16	61935354	61935354	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:61935354C>T	ENST00000577390.1	-	3	1230	c.276G>A	c.(274-276)ggG>ggA	p.G92G	CDH8_ENST00000299345.6_Silent_p.G92G|CDH8_ENST00000577730.1_Silent_p.G92G|CDH8_ENST00000584337.1_Silent_p.G92G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTTTTTGCTCCCAGGATCCA	0.353000													17	47					0	0	0.000958	0	0
MGAM	8972	broad.mit.edu	37	7	141747669	141747669	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:141747669G>A	ENST00000475668.2	+	22	2637	c.2583G>A	c.(2581-2583)acG>acA	p.T861T	MGAM_ENST00000549489.2_Silent_p.T861T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	861	Maltase.				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)	ATGGGGAAACGAAGGGTGAGC	0.458000													10	18					0	0	0.000673	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718366	103718366	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:103718366G>A	ENST00000245312.3	-	1	830	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	78					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGAGGGGCATGATTCCAAACT	0.527000													29	48					0	0	0.001271	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674000	70674000	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:70674000C>T	ENST00000260126.3	-	3	1724	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.D340N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.D340N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	340						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAACGAGGGTCATTCTGGTCA	0.353000													44	34					0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	151067891	151067891	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:151067891C>T	ENST00000474524.1	+	15	2228	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Silent_p.L590L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	730					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAATCCTTCTCTATGGAGTCG	0.423000													77	164					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9066420	9066420	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9066420G>A	ENST00000397910.4	-	3	21229	c.21026C>T	c.(21025-21027)tCc>tTc	p.S7009F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7011	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						TGTTCTTGTGGATATTTCTGG	0.517000													144	194					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152847283	152847283	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:152847283G>A	ENST00000367255.5	-	5	758	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	SYNE1_ENST00000367253.4_Missense_Mutation_p.L53F|SYNE1_ENST00000466159.2_Missense_Mutation_p.L53F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L53F|SYNE1_ENST00000413186.2_Missense_Mutation_p.L53F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L53F|SYNE1_ENST00000367248.3_Missense_Mutation_p.L53F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L53F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L53F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	53	Actin-binding.|CH 1.				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)		TCTTCAAAAAGATCGTCCACC	0.423000										HNSCC(10;0.0054)			41	10					0	0	0.003610	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71170824	71170824	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:71170824T>C	ENST00000234396.4	+	2	228	c.155T>C	c.(154-156)gTg>gCg	p.V52A	AC007040.7_ENST00000422761.1_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V52A|AC007040.7_ENST00000447639.1_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	52					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGGCCCCTGGTGGTGCTGGAC	0.627000													25	18					0	0	0.004656	0	0
PCSK9	255738	broad.mit.edu	37	1	55518010	55518010	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:55518010G>A	ENST00000302118.5	+	4	873	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000543384.1_5'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	195	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGACCACCGGGAAATCGAGGG	0.592000													173	136					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21033336	21033336	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:21033336G>A	ENST00000261383.3	-	40	5732	c.5733C>T	c.(5731-5733)atC>atT	p.I1911I	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1911					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGCAAGGTGGATGGGAGATG	0.473000													17	46					0	0	0.004007	0	0
MRO	83876	broad.mit.edu	37	18	48331632	48331632	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:48331632G>A	ENST00000428869.2	-	6	579	c.321C>T	c.(319-321)atC>atT	p.I107I	MRO_ENST00000436348.2_Silent_p.I121I|MRO_ENST00000431965.2_Silent_p.I121I|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000588444.1_Silent_p.I107I|MRO_ENST00000398439.3_Silent_p.I107I|MRO_ENST00000256425.2_Silent_p.I107I			Q9BYG7	MSTRO_HUMAN	maestro	107						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TACTCTCATGGATGACTTCCA	0.448000													36	38					0	0	0.003755	0	0
NLRP6	171389	broad.mit.edu	37	11	281032	281032	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:281032C>T	ENST00000534750.1	+	4	1503	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	NLRP6_ENST00000312165.5_Missense_Mutation_p.A433V	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	433	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTCCGGTAGCCGACGGGCCC	0.672000													85	44					0	0	0.003610	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246199	145246199	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:145246199C>T	ENST00000377976.1	-	2	428	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	143										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGAGAATTTTCCTCACAAAAT	0.428000													52	9					0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7649493	7649493	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:7649493C>T	ENST00000359156.4	-	5	1217	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	CD163_ENST00000396620.3_Missense_Mutation_p.E339K|CD163_ENST00000432237.2_Missense_Mutation_p.E339K|CD163_ENST00000541972.1_Missense_Mutation_p.E327K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	339	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAGCAGGTTCATGTCCCTGG	0.468000													16	40					0	0	0.004007	0	0
ZNF365	22891	broad.mit.edu	37	10	64159307	64159307	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:64159307C>T	ENST00000395254.3	+	5	1263	c.983C>T	c.(982-984)tCg>tTg	p.S328L	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACCCGCATTCGGTATGTAAC	0.493000													88	12					0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181705457	181705457	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:181705457G>A	ENST00000526775.1	+	21	3417	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E	CACNA1E_ENST00000357570.5_Silent_p.E1054E|CACNA1E_ENST00000360108.3_Silent_p.E1084E|CACNA1E_ENST00000367570.1_Silent_p.E1103E|CACNA1E_ENST00000367567.4_Silent_p.E710E|CACNA1E_ENST00000367573.2_Silent_p.E1103E|CACNA1E_ENST00000358338.5_Silent_p.E1035E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1103					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAGGCAGAGATCAGAgagg	0.498000													14	10					0	0	0.004007	0	0
SEC1P	653677	broad.mit.edu	37	19	49183688	49183688	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:49183688C>T	ENST00000430145.2	+	0	775					NR_004401.2																						ACCGCCACATCCCGGGGCGCT	0.652000													9	33					0	0	0.000443	0	0
MFSD12	126321	broad.mit.edu	37	19	3547298	3547298	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:3547298T>C	ENST00000355415.2	-	6	1164	c.995A>G	c.(994-996)aAg>aGg	p.K332R	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.K332R|MFSD12_ENST00000398558.4_Missense_Mutation_p.K332R	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	332					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GTTGATGGGCTTCATGAGGAA	0.627000													37	64					0	0	0.002522	0	0
GUCA2A	2980	broad.mit.edu	37	1	42628612	42628612	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:42628612C>T	ENST00000357001.2	-	3	318	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	105					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACAGATTTCACATGTGCCC	0.622000													33	23					0	0	0.005524	0	0
SATB2	23314	broad.mit.edu	37	2	200188594	200188594	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:200188594G>C	ENST00000443023.1	-	8	2762	c.1297C>G	c.(1297-1299)Caa>Gaa	p.Q433E	SATB2_ENST00000260926.5_Missense_Mutation_p.Q492E|SATB2_ENST00000428695.1_Missense_Mutation_p.Q374E|SATB2_ENST00000457245.1_Missense_Mutation_p.Q492E|SATB2_ENST00000417098.1_Missense_Mutation_p.Q492E			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	492						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCTCCTGTTGGATCTCGTCA	0.483000													29	58					0	0	0.001271	0	0
OR2T27	403239	broad.mit.edu	37	1	248814140	248814140	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248814140C>T	ENST00000344889.3	-	1	45	c.46G>A	c.(46-48)Ggt>Agt	p.G16S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGAACAAACCCAGAAGGATA	0.453000													8	75					0	0	0.000978	0	0
PDZD2	23037	broad.mit.edu	37	5	32087979	32087979	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:32087979C>T	ENST00000438447.1	+	20	4813	c.4425C>T	c.(4423-4425)gtC>gtT	p.V1475V	PDZD2_ENST00000282493.3_Silent_p.V1475V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1475					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						CCGAACCAGTCCCGGGGGGCC	0.677000													9	17					0	0	0.004482	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768016	31768016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:31768016G>A	ENST00000240587.4	-	2	3010	c.2683C>T	c.(2683-2685)Cag>Tag	p.Q895*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	895					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGTTTGACTGGCGGCCCTTC	0.612000													16	47					0	0	0.003163	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599960	64599960	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64599960G>A	ENST00000342711.5	-	27	3026	c.3027C>T	c.(3025-3027)acC>acT	p.T1009T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1009	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCAGGACAGGGGTAGCCGAGA	0.592000													17	27					0	0	0.000958	0	0
OR5I1	10798	broad.mit.edu	37	11	55703609	55703609	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55703609C>T	ENST00000301532.3	-	1	267	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTTGTTCTCCGAGAGGAAA	0.408000													8	13					0	0	0.003080	0	0
ARHGAP32	9743	broad.mit.edu	37	11	129034227	129034227	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:129034227G>A	ENST00000310343.9	-	2	211	c.212C>T	c.(211-213)aCt>aTt	p.T71I	ARHGAP32_ENST00000524655.1_5'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	71					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						TGCGCTAAGAGTTTCTTCCCA	0.358000													5	3					0	0	0.001168	0	0
DNAH3	55567	broad.mit.edu	37	16	21060892	21060892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:21060892C>T	ENST00000261383.3	-	31	4458	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1487K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1487	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGTTACCTCGATCCTGTTG	0.502000													41	36					0	0	0.001485	0	0
KIF18B	146909	broad.mit.edu	37	17	43010091	43010091	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:43010091G>A	ENST00000587309.1	-	9	1211	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	KIF18B_ENST00000590129.1_Silent_p.P405P|KIF18B_ENST00000593135.1_Silent_p.P396P|KIF18B_ENST00000339151.4_Silent_p.P396P|KIF18B_ENST00000438933.2_Silent_p.P396P	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCTGTGGTGGGGGCTGGCCTC	0.637000													38	103					0	0	0.002222	0	0
FARP2	9855	broad.mit.edu	37	2	242402023	242402023	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:242402023C>T	ENST00000264042.3	+	15	1843	c.1673C>T	c.(1672-1674)aCc>aTc	p.T558I	FARP2_ENST00000373287.4_Missense_Mutation_p.T558I|FARP2_ENST00000545004.1_Missense_Mutation_p.T558I	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	558	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GAAGTTATTACCGTGGTACGA	0.358000													11	49					0	0	0.000978	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253710	32253710	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:32253710G>A	ENST00000332378.4	-	1	164	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	45						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTCTGGAAGGAACTGGGCAA	0.582000													52	7					0	0	0.003610	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364737	117364737	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:117364737G>A	ENST00000160373.3	-	19	4402	c.4311C>T	c.(4309-4311)tcC>tcT	p.S1437S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1437								p.S1437S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGAAACTATGGATAAAGGGA	0.443000													18	28					0	0	0.001882	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142198044	142198044	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:142198044C>T	ENST00000471935.1	-	0	25																											TTTGCCCAATCAGGGTCACTG	0.567000													25	28					0	0	0.002096	0	0
SPZ1	84654	broad.mit.edu	37	5	79617198	79617198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:79617198G>A	ENST00000296739.4	+	1	1409	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GTACATTTTGGAAAAAAGACA	0.358000													26	54					0	0	0.004656	0	0
CNTN2	6900	broad.mit.edu	37	1	205041641	205041641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:205041641G>A	ENST00000331830.4	+	21	3046	c.2762G>A	c.(2761-2763)tGg>tAg	p.W921*		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	921	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACATCTCCTGGACTTTCTCA	0.542000													14	80					0	0	0.004007	0	0
DNAH9	1770	broad.mit.edu	37	17	11711058	11711058	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:11711058C>T	ENST00000262442.3	+	44	8498	c.8430C>T	c.(8428-8430)atC>atT	p.I2810I	DNAH9_ENST00000454412.2_Silent_p.I2810I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2810	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGCCATATCAATCGCATCT	0.537000													51	35					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179702444	179702444	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179702444C>T	ENST00000420890.2	-	23	3619	c.3502G>A	c.(3502-3504)Ggc>Agc	p.G1168S	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G593S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	593							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)			CCATTGATGCCCAAAAGATCT	0.468000													54	48					0	0	0.003610	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242255	87242255	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:87242255G>A	ENST00000297524.3	-	1	355	c.252C>T	c.(250-252)ctC>ctT	p.L84L	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.L84L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	84						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGTATCTCTTGAGAAAATAGT	0.488000													15	25					0	0	0.004007	0	0
MICAL2	9645	broad.mit.edu	37	11	12277215	12277215	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:12277215G>A	ENST00000256194.4	+	23	3161	c.2873G>A	c.(2872-2874)gGa>gAa	p.G958E	MICAL2_ENST00000537344.1_Missense_Mutation_p.G768E|MICAL2_ENST00000342902.5_Missense_Mutation_p.G937E|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Missense_Mutation_p.G768E	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	958						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTGTCCAGCGGAATAGGGGCT	0.547000													11	3					0	0	0.000978	0	0
TACC2	10579	broad.mit.edu	37	10	123845170	123845170	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:123845170C>T	ENST00000369005.1	+	4	3495	c.3155C>T	c.(3154-3156)gCt>gTt	p.A1052V	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1052V|TACC2_ENST00000334433.3_Missense_Mutation_p.A1052V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1052V|TACC2_ENST00000515273.1_Missense_Mutation_p.A1052V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1052						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACTCAGTAGCTCTCCTGGAT	0.617000													27	5					0	0	0.005443	0	0
ITGAL	3683	broad.mit.edu	37	16	30510543	30510543	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:30510543C>T	ENST00000356798.6	+	16	2161	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	ITGAL_ENST00000433423.2_Missense_Mutation_p.P57S|ITGAL_ENST00000358164.5_Missense_Mutation_p.P578S|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	661					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GTCTCTCATCCCCCAGTTCCA	0.507000													47	45					0	0	0.003610	0	0
PLCG2	5336	broad.mit.edu	37	16	81979868	81979868	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:81979868G>A	ENST00000359376.3	+	31	3784	c.3570_splice	c.e31+1	p.L1190_splice		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1190					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGCCAGTCCTGGTGAGTGGAG	0.527000													19	54					0	0	0.000958	0	0
PGGT1B	5229	broad.mit.edu	37	5	114577267	114577267	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:114577267G>A	ENST00000419445.1	-	3	316	c.296C>T	c.(295-297)tCa>tTa	p.S99L	PGGT1B_ENST00000379615.3_Missense_Mutation_p.S99L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	99					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	ACCCAGGTATGAAGAGCCTCG	0.353000													13	16					0	0	0.003163	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27499703	27499703	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:27499703C>T	ENST00000296097.3	+	3	525	c.107C>T	c.(106-108)tCc>tTc	p.S36F	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.S36F|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.S36F|DNAJC5G_ENST00000406962.1_Missense_Mutation_p.S36F	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	36	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.S36F(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAAAAAATCCTACAGGTTC	0.428000													8	25					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463818	25463818	+	RNA	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:25463818C>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.532000													148	102					0	0	0.003610	0	0
NCF4	4689	broad.mit.edu	37	22	37271732	37271732	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:37271732C>T	ENST00000397147.4	+	8	849	c.665C>T	c.(664-666)tCc>tTc	p.S222F	NCF4_ENST00000248899.6_Missense_Mutation_p.S222F	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	222	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTCCCTCTCTCCTTCGTGAAG	0.582000													65	8					0	0	0.003610	0	0
TEAD4	7004	broad.mit.edu	37	12	3103986	3103986	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:3103986C>T	ENST00000359864.2	+	3	244	c.54C>T	c.(52-54)tcC>tcT	p.S18S	TEAD4_ENST00000358409.2_Silent_p.S18S|TEAD4_ENST00000397122.2_Intron	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	18					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCCCACCTCCCCTGAGGGGA	0.642000													41	36					0	0	0.001287	0	0
CACNG6	59285	broad.mit.edu	37	19	54515427	54515427	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:54515427G>A	ENST00000252729.2	+	4	1357	c.767G>A	c.(766-768)gGg>gAg	p.G256E	CACNG6_ENST00000352529.1_Missense_Mutation_p.G185E|CACNG6_ENST00000346968.2_Missense_Mutation_p.G210E	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	256						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCCAAGCGGGGGCACCGGGCC	0.642000													30	110					0	0	0.002445	0	0
LHFPL5	222662	broad.mit.edu	37	6	35782489	35782489	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:35782489C>T	ENST00000360215.1	+	2	956	c.579C>T	c.(577-579)tcC>tcT	p.S193S	LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000373853.1_Silent_p.S193S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	193						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCATCCTCTCCTTCCTGGCCT	0.612000													18	45					0	0	0.006122	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484880	97484880	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:97484880C>T	ENST00000376705.2	+	2	868	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	282						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGATGAGCTGCCTACCTGCTA	0.557000													15	31					0	0	0.002450	0	0
CCDC178	374864	broad.mit.edu	37	18	30672827	30672827	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:30672827C>T	ENST00000383096.3	-	21	2468	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Silent_p.E762E|CCDC178_ENST00000583930.1_Silent_p.E762E|CCDC178_ENST00000406524.2_Silent_p.E762E|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000579947.1_Silent_p.E762E|CCDC178_ENST00000300227.8_Silent_p.E724E					coiled-coil domain containing 178																		GCTGTTGATACTCTTGAGCTA	0.264000													30	37					0	0	0.003271	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410864	59410864	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:59410864G>A	ENST00000301645.3	-	2	382	c.245C>T	c.(244-246)cCc>cTc	p.P82L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	82					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTATGACAAGGGATTTGTGAT	0.368000									Neonatal Giant Cell Hepatitis				52	56					0	0	0.003610	0	0
ARL14	80117	broad.mit.edu	37	3	160395290	160395290	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:160395290C>T	ENST00000320767.2	+	1	343	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	52					small GTPase mediated signal transduction	intracellular	GTP binding	p.I52I(1)		lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TGGAAATGATCGAGTTGGAAA	0.438000													26	58					0	0	0.001786	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269996	150269996	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:150269996G>A	ENST00000255945.2	+	3	1013	c.838G>A	c.(838-840)Gag>Aag	p.E280K	GIMAP4_ENST00000461940.1_Missense_Mutation_p.E294K|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	280							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGCAAATGGAGAAGAAACT	0.448000													13	16					0	0	0.001368	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808179	8808179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:8808179G>C	ENST00000447110.1	-	5	451	c.327C>G	c.(325-327)taC>taG	p.Y109*	PIK3R5_ENST00000581552.1_Nonsense_Mutation_p.Y109*|PIK3R5_ENST00000584803.1_Nonsense_Mutation_p.Y109*	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	109					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGAACCGGTGGTAGGTGCTGG	0.552000													53	37					0	0	0.003610	0	0
LLGL2	3993	broad.mit.edu	37	17	73539582	73539582	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:73539582G>A	ENST00000392550.3	+	2	192	c.75_splice	c.e2+1	p.K25_splice	LLGL2_ENST00000167462.5_Splice_Site_p.K25_splice|LLGL2_ENST00000578363.1_Splice_Site_p.K25_splice|LLGL2_ENST00000577200.1_Splice_Site_p.K25_splice|LLGL2_ENST00000375227.4_Splice_Site_p.K25_splice	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	25					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTTAACAAGgtaagttagg	0.567000													21	35					0	0	0.001523	0	0
FREM1	158326	broad.mit.edu	37	9	14805029	14805029	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:14805029G>A	ENST00000380881.4	-	20	4214	c.3399C>T	c.(3397-3399)tcC>tcT	p.S1133S	FREM1_ENST00000380880.3_Silent_p.S1132S|FREM1_ENST00000422223.2_Silent_p.S1132S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1132					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)		GTATCTCCAAGGAGTGATGCT	0.418000													43	51					0	0	0.001706	0	0
HERC1	8925	broad.mit.edu	37	15	64005676	64005676	+	Missense_Mutation	SNP	G	G	A	rs7162519		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:64005676G>A	ENST00000443617.2	-	23	4426	c.4339C>T	c.(4339-4341)Cat>Tat	p.H1447Y	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1447			H -> N (in dbSNP:rs7162519).		protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACACCGATGGATCACGGAG	0.507000													37	47					0	0	0.001951	0	0
MYH13	8735	broad.mit.edu	37	17	10267766	10267766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:10267766G>A	ENST00000418404.3	-	2	245	c.82C>T	c.(82-84)Caa>Taa	p.Q28*	MYH13_ENST00000570743.1_Nonsense_Mutation_p.Q28*|MYH13_ENST00000252172.4_Nonsense_Mutation_p.Q28*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	28	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACGATTTTGAGCCTCGATT	0.468000													8	7					0	0	0.004482	0	0
ZFHX3	463	broad.mit.edu	37	16	72991901	72991901	+	Missense_Mutation	SNP	C	C	T	rs147160019		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:72991901C>T	ENST00000268489.5	-	2	2816	c.2144G>A	c.(2143-2145)cGa>cAa	p.R715Q	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	715					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)				GCTCTCGCCTCGTGCCAGCCG	0.587000													32	83					0	0	0.002096	0	0
CD40LG	959	broad.mit.edu	37	X	135732472	135732472	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:135732472G>A	ENST00000370629.2	+	2	260	c.204G>A	c.(202-204)acG>acA	p.T68T	CD40LG_ENST00000370628.2_Silent_p.T68T	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	68					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)	TCATGAAAACGATACAGAGAT	0.353000									Immune Deficiency with Hyper-IgM				45	5					0	0	0.002222	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698255	17698255	+	Silent	SNP	A	A	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:17698255A>T	ENST00000399080.2	-	1	1451	c.1428T>A	c.(1426-1428)acT>acA	p.T476T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	476										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGCCAAACAGTCGTTATTA	0.338000													8	25					0	0	0.003080	0	0
ACSM1	116285	broad.mit.edu	37	16	20634825	20634825	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:20634825C>T	ENST00000219151.4	-	14	1880	c.670G>A	c.(670-672)Gag>Aag	p.E224K	ACSM1_ENST00000520010.1_Missense_Mutation_p.E573K|ACSM1_ENST00000307493.4_Missense_Mutation_p.E573K			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	573					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGACCAGTCTCCTTTTTCCGA	0.493000													54	37					0	0	0.003610	0	0
CTSV	1515	broad.mit.edu	37	9	99795232	99795232	+	Silent	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:99795232C>T	ENST00000259470.5	-	8	1253	c.1004G>A	c.(1003-1005)tGa>tAa	p.*335*	CTSV_ENST00000538255.1_Silent_p.*335*	NM_001333.3	NP_001324.2			cathepsin V																		TCCATCAGCTCACACATTGGG	0.468000													37	5					0	0	0.004878	0	0
ESCO1	114799	broad.mit.edu	37	18	19116057	19116057	+	Silent	SNP	G	G	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:19116057G>A	ENST00000269214.5	-	10	3070	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	711					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CATTGGAAATGAAGAGAAGTG	0.363000													36	131					0	0	0.001485	0	0
OR8D2	283160	broad.mit.edu	37	11	124189174	124189174	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:124189174C>T	ENST00000357438.2	-	1	1010	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGACTGCCTTCCCCTAGTCAT	0.398000													26	64					0	0	0.003954	0	0
ZNF621	285268	broad.mit.edu	37	3	40571799	40571802	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:40571799_40571802delTCAG	ENST00000339296.5	+	4	703_706	c.251_254delTCAG	c.(250-255)atfs	p.IS84fs	ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000310898.1_Frame_Shift_Del_p.IS84fs|ZNF621_ENST00000403205.2_Frame_Shift_Del_p.IS84fs	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CTGAGAGGCATCAGTCAAGGTGAG	0.505													17	64	---	---	---	---					
DST	667	broad.mit.edu	37	6	56471405	56471406	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:56471405_56471406insC	ENST00000370754.5	-	39	7920_7921	c.7921_7922insG	c.(7921-7923)accfs	p.T2641fs	DST_ENST00000312431.6_Frame_Shift_Ins_p.T2463fs|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Frame_Shift_Ins_p.T2463fs|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Frame_Shift_Ins_p.T2137fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.T2463fs			Q03001	DYST_HUMAN	dystonin	2463					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCAACTGGTGCCCCCTGGGGA	0.401													58	106	---	---	---	---					
DACH1	1602	broad.mit.edu	37	13	72053340	72053340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:72053340delT	ENST00000305425.4	-	8	2259	c.1837delA	c.(1837-1839)cafs	p.T613fs	DACH1_ENST00000313174.7_Frame_Shift_Del_p.T465fs|DACH1_ENST00000354591.4_Frame_Shift_Del_p.T411fs|DACH1_ENST00000359684.2_Frame_Shift_Del_p.T665fs	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	663					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCTCAAGTGTTTCCCTTAGT	0.333													14	55	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50666299	50666300	+	Frame_Shift_Ins	INS	-	-	CACGT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:50666299_50666300insCACGT	ENST00000268459.3	+	9	1027_1028	c.803_804insCACGT	c.(802-804)tacfs	p.Y268fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	268					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ATAGAAAACTACACGTCCCAAT	0.599													8	28	---	---	---	---					
PIPOX	51268	broad.mit.edu	37	17	27380135	27380135	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:27380135delC	ENST00000323372.4	+	3	787	c.461delC	c.(460-462)gcfs	p.A154fs	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	154					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCATATAAGGCCCTCAGAGCC	0.562													18	48	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:43052773_43052775delGCT	ENST00000316099.3	+	8	1097_1099	c.1008_1010delGCT	c.(1006-1011)gag>ga	p.EL336del	HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	336					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576													10	369	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898665	42898666	+	RNA	INS	-	-	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:42898665_42898666insC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCCATATGGTGCCCCCCCCCCA	0.589													3	4	---	---	---	---