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
POMC	5443	broad.mit.edu	37	2	25383955	25383955	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:25383955C>A	ENST00000405623.1	-	3	1254	c.799G>T	c.(799-801)Gag>Tag	p.E267*	POMC_ENST00000395826.2_Nonsense_Mutation_p.E267*|POMC_ENST00000264708.3_Nonsense_Mutation_p.E267*|POMC_ENST00000380794.1_Nonsense_Mutation_p.E267*			P01189	COLI_HUMAN	proopiomelanocortin	267					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TGCCCTCACTCGCCCTTCTTG	0.657000													19	70					8.34094e-07	1.12664e-06	1	1	0
BCR	613	broad.mit.edu	37	22	23603639	23603639	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:23603639A>T	ENST00000305877.8	+	4	2415	c.1664A>T	c.(1663-1665)gAg>gTg	p.E555V	BCR_ENST00000359540.3_Missense_Mutation_p.E555V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	555	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GAGCTCTACGAGATCCACAAG	0.587000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								20	111					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571172	71571172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:71571172C>A	ENST00000395275.2	-	4	740	c.352G>T	c.(352-354)Gag>Tag	p.E118*	CALN1_ENST00000405452.2_Nonsense_Mutation_p.E76*|CALN1_ENST00000329008.5_Nonsense_Mutation_p.E76*|CALN1_ENST00000395276.2_Nonsense_Mutation_p.E76*|CALN1_ENST00000431984.1_Nonsense_Mutation_p.E76*|CALN1_ENST00000412588.1_Nonsense_Mutation_p.E118*	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	76						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATGGCCAGCTCCACCTCGCTT	0.602000													13	35					0.00010058	0.000121409	1	1	0
ORC4	5000	broad.mit.edu	37	2	148705695	148705695	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:148705695T>A	ENST00000535373.1	-	10	1119	c.687A>T	c.(685-687)atA>atT	p.I229I	ORC4_ENST00000264169.2_Silent_p.I229I|ORC4_ENST00000392858.1_Silent_p.I229I|ORC4_ENST00000540442.1_Silent_p.I155I|ORC4_ENST00000536575.1_Silent_p.I145I|ORC4_ENST00000542387.1_Silent_p.I12I|ORC4_ENST00000392857.4_Silent_p.I229I	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	229					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						GTTCTTTAAATATTTTAACAT	0.333000													9	87					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691887	30691887	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:30691887G>T	ENST00000295754.5	+	3	771	c.389G>T	c.(388-390)gGt>gTt	p.G130V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.G155V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	130					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AAAAAGCCTGGTGAGACTTTC	0.443000													28	124					2.12542e-12	3.46384e-12	1	1	0
TTC3	7267	broad.mit.edu	37	21	38573834	38573834	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr21:38573834C>G	ENST00000399017.2	+	46	8784	c.6037C>G	c.(6037-6039)Ccc>Gcc	p.P2013A	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.P2013A|TTC3_ENST00000354749.2_Missense_Mutation_p.P2013A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	2013					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGAGGCTGGCCCAGTCAGAA	0.507000													8	73					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518189	85518189	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:85518189A>T	ENST00000393217.2	+	17	3960	c.3899A>T	c.(3898-3900)gAa>gTa	p.E1300V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1300										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAGAAGAGAGAAGACAGCAAG	0.413000													29	316					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54974129	54974129	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:54974129G>T	ENST00000217109.4	+	5	1104	c.752G>T	c.(751-753)tGt>tTt	p.C251F	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	251					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			ACCTTTCAATGTTTTGTCTCT	0.403000													44	217					3.43241e-23	6.32699e-23	1	1	0
FBLN1	2192	broad.mit.edu	37	22	45959018	45959018	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:45959018G>C	ENST00000402984.3	+	16	2141	c.2038G>C	c.(2038-2040)Gtg>Ctg	p.V680L	FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.V642L|FBLN1_ENST00000442170.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	660					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGTGGGGTGGTGGCCCTCAC	0.647000													7	93					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369880	86369880	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:86369880C>T	ENST00000400286.2	-	2	1362	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	255	LRRCT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GAGTATACTTCCTTTAAAAAA	0.403000													7	115					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611788	179611788	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:179611788T>A	ENST00000360870.5	-	46	15561	c.15339A>T	c.(15337-15339)gcA>gcT	p.A5113A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1220	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)			ATCTCTCTAGTGCCTCCCCTG	0.483000													23	139					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062383	194062383	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:194062383G>T	ENST00000323830.3	-	2	1138	c.1049C>A	c.(1048-1050)aCg>aAg	p.T350K	CPN2_ENST00000429275.1_Missense_Mutation_p.T350K	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	350					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GTGCAGCGCCGTAAGGTTGTT	0.572000													15	67					0.00316338	0.00354715	1	1	0
TSPAN17	26262	broad.mit.edu	37	5	176083119	176083119	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:176083119T>G	ENST00000298564.10	+	3	448	c.299T>G	c.(298-300)cTc>cGc	p.L100R	TSPAN17_ENST00000310032.8_Missense_Mutation_p.L208R|TSPAN17_ENST00000515708.1_Missense_Mutation_p.L208R|TSPAN17_ENST00000508164.1_Missense_Mutation_p.L208R|TSPAN17_ENST00000405525.2_Missense_Mutation_p.L208R|TSPAN17_ENST00000503045.1_Missense_Mutation_p.L185R			Q96FV3	TSN17_HUMAN	tetraspanin 17	208						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGTCCGGCTCAAACTGGTG	0.597000													10	58					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7728045	7728045	+	Splice_Site	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:7728045C>T	ENST00000486284.1	+	10	2974	c.2698_splice	c.e10-1	p.N900_splice	GRM7_ENST00000402647.2_Splice_Site_p.N900_splice|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000403881.1_Intron	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	900					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)	TTCCTGTAGACTGTATACCAC	0.328000													7	65					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155796655	155796655	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:155796655C>G	ENST00000437809.1	-	3	792	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q	GON4L_ENST00000368331.1_Missense_Mutation_p.E224Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E224Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E224Q|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	224					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCACCATCTTCTATCTCTTCC	0.408000													11	129					0	0	1	0	0
CYCS	54205	broad.mit.edu	37	7	25163458	25163458	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:25163458C>A	ENST00000305786.2	-	3	349	c.180G>T	c.(178-180)tgG>tgT	p.W60C	CYCS_ENST00000409764.1_Missense_Mutation_p.W60C|CYCS_ENST00000409409.1_Missense_Mutation_p.W60C	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	60					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TATCCTCTCCCCAGATGATGC	0.388000													57	150					3.21867e-24	5.98414e-24	1	1	0
LIMCH1	22998	broad.mit.edu	37	4	41615569	41615569	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:41615569C>T	ENST00000313860.7	+	7	627	c.573C>T	c.(571-573)ctC>ctT	p.L191L	LIMCH1_ENST00000514096.1_Silent_p.L44L|LIMCH1_ENST00000511496.1_Silent_p.L32L|LIMCH1_ENST00000381753.4_Silent_p.L37L|LIMCH1_ENST00000509277.1_Silent_p.L37L|LIMCH1_ENST00000509454.1_Silent_p.L39L|LIMCH1_ENST00000509638.1_Silent_p.L32L|LIMCH1_ENST00000503057.1_Silent_p.L32L|LIMCH1_ENST00000396595.3_Silent_p.L37L|LIMCH1_ENST00000512946.1_Silent_p.L191L|LIMCH1_ENST00000508501.1_Silent_p.L191L|LIMCH1_ENST00000512820.1_Silent_p.L191L|LIMCH1_ENST00000512632.1_Silent_p.L191L|LIMCH1_ENST00000513024.1_Silent_p.L32L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	191					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						GCGACTCCCTCTCTCCTCCTC	0.542000													7	70					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203459	26203459	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:26203459C>A	ENST00000264712.3	-	1	1907	c.1328G>T	c.(1327-1329)cGc>cTc	p.R443L	KIF3C_ENST00000405914.1_Missense_Mutation_p.R443L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	443					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCGGGCGGTGGTTGTT	0.617000													17	134					2.48551e-13	4.13399e-13	1	1	0
MYH9	4627	broad.mit.edu	37	22	36690172	36690172	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:36690172C>A	ENST00000216181.5	-	28	4033	c.3803G>T	c.(3802-3804)cGc>cTc	p.R1268L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1268					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCTCTGTGCGCACGCGCTC	0.667000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	83					0.000274275	0.000323235	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38229405	38229405	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:38229405C>T	ENST00000379705.3	-	7	2561	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	TRPC4_ENST00000379681.3_Silent_p.L568L|TRPC4_ENST00000338947.5_Silent_p.L395L|TRPC4_ENST00000379673.2_Silent_p.L568L|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Silent_p.L568L|TRPC4_ENST00000379679.1_Silent_p.L395L|TRPC4_ENST00000447043.1_Silent_p.L568L|TRPC4_ENST00000355779.2_Silent_p.L568L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	568					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACAGGGACTGCAGTGTCTCAA	0.333000													3	25					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517994	176517994	+	Silent	SNP	G	G	A	rs139194967		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:176517994G>A	ENST00000292408.4	+	5	737	c.492G>A	c.(490-492)gcG>gcA	p.A164A	FGFR4_ENST00000292410.3_Silent_p.A164A|FGFR4_ENST00000393637.1_Silent_p.A164A|FGFR4_ENST00000393648.2_Silent_p.A164A|FGFR4_ENST00000502906.1_Silent_p.A164A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	164	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CAGTACCTGCGGGGAACACCG	0.607000										TSP Lung(9;0.080)			9	47					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184535	19184535	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:19184535A>T	ENST00000275461.3	-	1	509	c.451T>A	c.(451-453)Tcc>Acc	p.S151T	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	151	Helix-loop-helix motif.				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						GTCATGAAGGAGATATAGACG	0.582000													6	69					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56699131	56699131	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:56699131T>A	ENST00000389934.3	-	5	551	c.434A>T	c.(433-435)cAg>cTg	p.Q145L	TEX14_ENST00000349033.5_Missense_Mutation_p.Q145L|TEX14_ENST00000240361.8_Missense_Mutation_p.Q145L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	145						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)					GGCACAGCGCTGCATGAACTC	0.552000													27	60					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30977173	30977173	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:30977173C>A	ENST00000295055.8	-	9	1100	c.924G>T	c.(922-924)cgG>cgT	p.R308R	CAPN13_ENST00000534090.2_Silent_p.R308R	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	308	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)					CGCCATCTTCCCGTTTCTTAT	0.448000													6	21					8.12818e-05	9.82979e-05	1	1	0
GIMAP6	474344	broad.mit.edu	37	7	150325213	150325213	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:150325213G>C	ENST00000328902.5	-	3	689	c.473C>G	c.(472-474)aCc>aGc	p.T158S	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	158							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGATGGTGTGACCCAG	0.622000													13	159					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117769036	117769036	+	Translation_Start_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:117769036G>T	ENST00000317775.6	-	0	524				NOS1_ENST00000344089.3_De_novo_Start_InFrame	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)						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)	CGTCAGCTCAGCGTCACCCAC	0.582000													4	11					0.00909568	0.00984098	1	1	0
CMTR2	55783	broad.mit.edu	37	16	71318473	71318473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:71318473C>A	ENST00000338099.5	-	3	1687	c.1351G>T	c.(1351-1353)Gaa>Taa	p.E451*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E451*			Q8IYT2	FTSJ1_HUMAN		451						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAAGGGCTTCTAGCATCTTC	0.343000													17	66					0.000422831	0.000494705	1	1	0
PSG7	5676	broad.mit.edu	37	19	43433615	43433615	+	RNA	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:43433615G>T	ENST00000406070.2	-	0	784				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGGGTGACTGGGTCACTGCGG	0.527000													69	396					2.92363e-43	5.59642e-43	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984987	140984987	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:140984987G>T	ENST00000298296.1	+	7	1443	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	MAGEC3_ENST00000536088.1_Missense_Mutation_p.E183D|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E183D|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E103D|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E183D	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	481	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGGCAGAGATGCTGACGA	0.453000													23	143					3.83957e-06	4.9684e-06	1	1	0
IFNE	338376	broad.mit.edu	37	9	21481558	21481558	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:21481558G>T	ENST00000448696.3	-	1	754	c.136C>A	c.(136-138)Caa>Aaa	p.Q46K	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	46			Q -> H (in dbSNP:rs1125488).		defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GACAAGGTTTGCAACTTATTC	0.413000													17	77					3.41278e-10	5.17112e-10	1	1	0
TESPA1	9840	broad.mit.edu	37	12	55356745	55356745	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:55356745C>A	ENST00000524622.1	-	7	1184	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	TESPA1_ENST00000449076.1_Missense_Mutation_p.D313Y|TESPA1_ENST00000316577.8_Missense_Mutation_p.D313Y|TESPA1_ENST00000531122.1_Missense_Mutation_p.D175Y|TESPA1_ENST00000532804.1_Missense_Mutation_p.D175Y	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	313																	ACAACTTGGTCCAAACTGTTC	0.527000													4	60					1	1	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26153001	26153001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:26153001G>T	ENST00000381655.2	+	21	1973	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.E571*|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	571					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATATATGGAGGAAACATTATG	0.383000													11	60					2.68362e-12	4.36257e-12	1	1	0
PDSS1	23590	broad.mit.edu	37	10	27009245	27009245	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:27009245G>A	ENST00000376215.5	+	6	619	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	PDSS1_ENST00000376203.5_Missense_Mutation_p.R189Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	189					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	p.R189Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GCAAGTTCTCGAAGAGGAAAA	0.423000													12	215					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55902186	55902186	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:55902186T>G	ENST00000388975.3	-	6	768	c.652A>C	c.(652-654)Aat>Cat	p.N218H		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	218					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCCATTGCTAATCAAT	0.363000													10	72					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299906	112299906	+	Silent	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:112299906A>G	ENST00000492406.1	+	6	1225	c.942A>G	c.(940-942)gcA>gcG	p.A314A	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	314						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TTGTAACTGCATTCCAGGGCC	0.438000													12	102					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101477465	101477465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:101477465C>T	ENST00000392979.3	+	15	1661	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	ANO4_ENST00000299222.9_Intron|ANO4_ENST00000392977.3_Nonsense_Mutation_p.R469*|ANO4_ENST00000550015.1_Intron	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	469						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAAGAAATACGACCCCAGTT	0.378000										HNSCC(74;0.22)			12	161					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8469800	8469800	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:8469800G>C	ENST00000389737.4	+	9	1654	c.1654G>C	c.(1654-1656)Ggt>Cgt	p.G552R	TRMT44_ENST00000513449.2_Missense_Mutation_p.G311R	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		TGGCAGTGCTGGTCACTGTGA	0.637000													7	39					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10263288	10263288	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:10263288G>C	ENST00000280326.4	+	10	1780	c.1360G>C	c.(1360-1362)Gca>Cca	p.A454P	CCT5_ENST00000515390.1_Missense_Mutation_p.A399P|CCT5_ENST00000515676.1_Missense_Mutation_p.A416P|CCT5_ENST00000506600.1_Missense_Mutation_p.A361P|CCT5_ENST00000503026.1_Missense_Mutation_p.A433P	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	454					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GTTTGCCGACGCACTGGAGGT	0.537000													7	102					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114948266	114948266	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:114948266A>G	ENST00000358465.2	-	15	2617	c.2534T>C	c.(2533-2535)aTg>aCg	p.M845T	TRIM33_ENST00000369543.2_Missense_Mutation_p.M845T|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.M477T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	845					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTTCATTCATATCTGCAGG	0.478000			T	RET	papillary thyroid								10	163					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2951886	2951886	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:2951886T>A	ENST00000416614.2	-	8	1122	c.1057A>T	c.(1057-1059)Agt>Tgt	p.S353C	NOP14_ENST00000314262.6_Missense_Mutation_p.S353C|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.S353C|NOP14_ENST00000398071.4_Missense_Mutation_p.S353C|NOP14-AS1_ENST00000503709.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	353					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCAGGGTCACTGGCTTCCTTG	0.552000													44	199					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067722	175067722	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:175067722G>T	ENST00000239462.4	+	9	2223	c.2110G>T	c.(2110-2112)Gcc>Tcc	p.A704S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	704	Fibronectin type-III 5.				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)		CGACACCAAGGCCCAGACAGG	0.572000													13	84					9.31168e-06	1.18131e-05	1	1	0
CAPN13	92291	broad.mit.edu	37	2	30977172	30977172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:30977172C>A	ENST00000295055.8	-	9	1101	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	CAPN13_ENST00000534090.2_Nonsense_Mutation_p.E309*	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	309	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)					TCGCCATCTTCCCGTTTCTTA	0.448000													6	20					8.12818e-05	9.82979e-05	1	1	0
RHO	6010	broad.mit.edu	37	3	129251386	129251386	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:129251386A>T	ENST00000296271.3	+	4	801	c.707A>T	c.(706-708)cAg>cTg	p.Q236L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	236					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GCCGCTGCCCAGCAGCAGGAG	0.647000													11	57					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111749950	111749950	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:111749950C>A	ENST00000261726.6	+	16	2101	c.1947C>A	c.(1945-1947)gaC>gaA	p.D649E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	649						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTCAGACGACGCCATCAAGA	0.622000													4	30					0.00909568	0.00984098	1	1	0
LVRN	206338	broad.mit.edu	37	5	115351445	115351445	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:115351445G>T	ENST00000357872.4	+	18	2863	c.2739G>T	c.(2737-2739)tgG>tgT	p.W913C	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		913					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TCAACAACTGGCAAGCTGTGA	0.428000													9	95					0.00621372	0.00686054	1	1	0
TRPM5	29850	broad.mit.edu	37	11	2441552	2441552	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:2441552G>A	ENST00000452833.1	-	4	563	c.555C>T	c.(553-555)ttC>ttT	p.F185F	TRPM5_ENST00000155858.6_Silent_p.F183F|TRPM5_ENST00000528453.1_Silent_p.F183F|TRPM5_ENST00000533060.1_Silent_p.F183F			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	183						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)		CCACCAGGATGAAGTGGGAGA	0.667000													5	83					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067886	106067886	+	RNA	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:106067886G>T	ENST00000390540.2	-	0	499																											CAGAGAGCGTGAGGGTGGTGG	0.622000													7	88					0.00198382	0.00224002	1	1	0
TMEM55A	55529	broad.mit.edu	37	8	92030658	92030658	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:92030658C>T	ENST00000285419.3	-	4	760	c.446G>A	c.(445-447)gGt>gAt	p.G149D	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	149						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GACCCTTGTACCTTCTGGTTG	0.423000													89	214					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443733	158443733	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:158443733A>T	ENST00000243349.7	-	2	630	c.270T>A	c.(268-270)gaT>gaA	p.D90E	ACVR1C_ENST00000348328.5_Missense_Mutation_p.D90E|ACVR1C_ENST00000409680.3_Missense_Mutation_p.D40E|ACVR1C_ENST00000335450.7_Missense_Mutation_p.D90E	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	90					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGTTGCAAAAATCTGTGAAGC	0.398000													33	205					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79465219	79465219	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:79465219T>A	ENST00000507668.2	-	6	852	c.702A>T	c.(700-702)ggA>ggT	p.G234G	SERINC5_ENST00000512972.2_Silent_p.G234G|SERINC5_ENST00000512721.1_Silent_p.G234G|SERINC5_ENST00000509193.1_Silent_p.G234G	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	234					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CTCCATTTACTCCCAGCAGAA	0.418000													7	111					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30433133	30433133	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:30433133C>A	ENST00000358117.5	-	6	889	c.766_splice	c.e6-1	p.G256_splice	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	256					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GATGCCATAACCTGTGGGGAG	0.438000													7	55					0.0293803	0.030759	1	1	0
HIST1H4D	8360	broad.mit.edu	37	6	26189155	26189155	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:26189155G>A	ENST00000340756.2	-	1	149	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CCTCATAAATGAGGCCAGAAA	0.542000													18	81					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462724	5462724	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:5462724G>A	ENST00000380211.1	-	1	20	c.21C>T	c.(19-21)acC>acT	p.T7T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGAAGGGGGTGCCATTGA	0.507000													5	87					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564488	117564488	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:117564488A>T	ENST00000256652.4	+	7	2369	c.2311A>T	c.(2311-2313)Agc>Tgc	p.S771C	CD101_ENST00000369470.1_Missense_Mutation_p.S771C	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	771	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTGGAAGACAGCGATCGGGG	0.443000													16	113					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233700	21233700	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:21233700G>T	ENST00000233242.1	-	26	6167	c.6040C>A	c.(6040-6042)Ctg>Atg	p.L2014M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2014					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGTCAGCCAGAGTTCGTCCA	0.423000													28	181					1.55811e-20	2.8238e-20	1	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75898316	75898316	+	Silent	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:75898316T>C	ENST00000262207.4	+	2	562	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	32						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGCCACTTTATTGGAGAAACT	0.468000													51	114					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2027014	2027014	+	Splice_Site	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:2027014G>A	ENST00000262113.4	+	12	1603	c.1462_splice	c.e12+1	p.A488_splice	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	488					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGGTTACAAGGTAAGCTGCT	0.552000													10	141					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9491821	9491821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9491821C>T	ENST00000434737.2	+	5	870	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000589262.1_Nonsense_Mutation_p.Q272*|ZNF177_ENST00000446085.4_3'UTR			Q13360	ZN177_HUMAN	zinc finger protein 177	280					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TTTGTCCCTTCAGAACTGTGT	0.433000													14	104					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991850	52991850	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:52991850T>C	ENST00000371544.3	-	2	365	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K35E|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.K35E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	35					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTCTAGCTTTCAATGTTTGA	0.284000													11	36					0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225155412	225155412	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:225155412A>G	ENST00000366850.3	+	7	890	c.682A>G	c.(682-684)Ata>Gta	p.I228V	DNAH14_ENST00000439375.2_Intron|DNAH14_ENST00000430092.1_Intron|DNAH14_ENST00000400952.3_Intron|DNAH14_ENST00000366848.1_Missense_Mutation_p.I228V|DNAH14_ENST00000366849.1_Intron	NM_144989.2	NP_659426.2	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	0					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGCAGTTTATATATAAGAATC	0.269000													24	70					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043340	35043340	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:35043340G>A	ENST00000312292.5	+	2	761	c.714G>A	c.(712-714)agG>agA	p.R238R	C9orf131_ENST00000421362.2_Silent_p.R190R|C9orf131_ENST00000354479.5_Silent_p.R165R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	238										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCTACCTAGGTCCAACCTGT	0.537000													44	174					0	0	1	0	0
LIN7B	64130	broad.mit.edu	37	19	49619582	49619582	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:49619582C>T	ENST00000221459.2	+	4	335	c.291C>T	c.(289-291)ccC>ccT	p.P97P	LIN7B_ENST00000391864.3_Intron	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	97	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TGGAGCTACCCAAGACGGATG	0.612000													8	33					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45595767	45595767	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:45595767C>A	ENST00000336156.4	-	8	1067	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	KIAA0930_ENST00000251993.7_Missense_Mutation_p.E339D|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Missense_Mutation_p.E300D|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E316D	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	334							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CACCGTCGTCCTCCCGGAAGA	0.572000													15	143					7.93312e-07	1.07379e-06	1	1	0
HTR2C	3358	broad.mit.edu	37	X	114141858	114141858	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:114141858C>T	ENST00000276198.1	+	6	1985	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	HTR2C_ENST00000371951.1_Silent_p.T419T|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	419					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ATCGGCATACCAATGAACCGG	0.458000													10	228					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408562	40408562	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:40408562G>A	ENST00000221347.6	-	8	4284	c.4277C>T	c.(4276-4278)tCt>tTt	p.S1426F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1426	VWFD 3.					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)			CAGGCAGGGAGAGTCGGGCAC	0.627000													16	77					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121229085	121229085	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:121229085T>A	ENST00000264233.5	-	11	1745	c.1617A>T	c.(1615-1617)atA>atT	p.I539I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	539	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCACCAACTATTATCTGAA	0.433000								DNA polymerases (catalytic subunits)					13	86					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987493	61987493	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:61987493G>A	ENST00000450719.3	-	3	455	c.218C>T	c.(217-219)cCt>cTt	p.P73L	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.P84L|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000392824.4_3'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGGGCTTCCAGGATTGGGGAC	0.552000													12	135					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108138873	108138873	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:108138873G>T	ENST00000370056.4	-	25	2585	c.2311C>A	c.(2311-2313)Cat>Aat	p.H771N	VAV3_ENST00000415432.2_Missense_Mutation_p.H211N|VAV3_ENST00000544443.1_Missense_Mutation_p.H175N|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.H771N	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	771					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCAGCTGAATGTTCTGGCTCC	0.403000													11	171					4.68919e-08	6.75703e-08	1	1	0
TMEM196	256130	broad.mit.edu	37	7	19765298	19765298	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:19765298G>T	ENST00000405844.1	-	3	993	c.298C>A	c.(298-300)Cta>Ata	p.L100I	TMEM196_ENST00000405764.3_Missense_Mutation_p.L100I|TMEM196_ENST00000493519.1_Missense_Mutation_p.L32I|TMEM196_ENST00000422233.1_Missense_Mutation_p.L32I|TMEM196_ENST00000433641.1_Missense_Mutation_p.L32I			Q5HYL7	TM196_HUMAN	transmembrane protein 196	106						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						AGTGGGTATAGGGAGGAAGTT	0.507000													23	139					5.26018e-13	8.70418e-13	1	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3806019	3806019	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:3806019T>A	ENST00000440314.2	-	4	620	c.147A>T	c.(145-147)ctA>ctT	p.L49L	EFCAB4B_ENST00000444507.1_Silent_p.L49L|EFCAB4B_ENST00000252322.1_Silent_p.L49L	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	49					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCAGCATGACTAGCTGGCCCG	0.597000													7	74					0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54529059	54529059	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:54529059C>A	ENST00000373968.3	-	3	385	c.321G>T	c.(319-321)ctG>ctT	p.L107L	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	107					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTGAGGCAGCCAGGCTACTAT	0.398000													25	137					4.59853e-10	6.93531e-10	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75601758	75601758	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:75601758G>T	ENST00000549446.1	-	2	686	c.6C>A	c.(4-6)ggC>ggA	p.G2G	KCNC2_ENST00000341669.3_Silent_p.G2G|KCNC2_ENST00000393288.2_Silent_p.G2G|KCNC2_ENST00000548513.1_Silent_p.G2G|KCNC2_ENST00000298972.1_Silent_p.G2G|KCNC2_ENST00000550433.1_Silent_p.G2G|KCNC2_ENST00000350228.2_Silent_p.G2G|KCNC2_ENST00000540018.1_Silent_p.G2G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	2					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TCTCGATCTTGCCCATCTCTG	0.587000													11	66					3.07112e-06	3.98199e-06	1	1	0
TCL6	27004	broad.mit.edu	37	14	96134502	96134502	+	RNA	SNP	A	A	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:96134502A>C	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTATGATCACAAATGTTTCAA	0.448000			T	TRA@	T-ALL								13	113					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216258142	216258142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:216258142C>A	ENST00000366943.2	-	25	5451	c.5065G>T	c.(5065-5067)Gaa>Taa	p.E1689*	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.E1689*|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1689	Laminin G-like 1.				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)		TCCAGAGGTTCCCAAATAGCT	0.423000										HNSCC(13;0.011)			43	132					4.01765e-15	6.89502e-15	1	1	0
DGKB	1607	broad.mit.edu	37	7	14724898	14724898	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:14724898G>T	ENST00000403951.2	-	10	1220	c.801C>A	c.(799-801)ggC>ggA	p.G267G	DGKB_ENST00000444700.2_Silent_p.G260G|DGKB_ENST00000407950.1_Silent_p.G260G|DGKB_ENST00000399322.3_Silent_p.G267G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Silent_p.G267G|DGKB_ENST00000406247.3_Silent_p.G267G|DGKB_ENST00000402815.1_Silent_p.G267G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	267					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCTTCCCCACGCCAATCAGCA	0.493000													8	78					0.000274275	0.000323235	1	1	0
CHD8	57680	broad.mit.edu	37	14	21899264	21899264	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:21899264G>A	ENST00000399982.2	-	1	603	c.539C>T	c.(538-540)gCc>gTc	p.A180V	CHD8_ENST00000557364.1_Missense_Mutation_p.A180V|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	180					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATACCTTGGGCCTGAATTTG	0.562000													3	26					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175742	79175742	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:79175742G>T	ENST00000554719.1	+	4	776	c.285G>T	c.(283-285)atG>atT	p.M95I	NRXN3_ENST00000335750.5_Missense_Mutation_p.M95I|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTAAACGTATGGGCTCCATCT	0.517000													10	107					3.86212e-05	4.75055e-05	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30934582	30934582	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:30934582A>T	ENST00000355537.3	+	2	260	c.113A>T	c.(112-114)cAg>cTg	p.Q38L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCTGCACCAGATCACCTCC	0.667000													17	122					0	0	1	0	0
MIR492	574449	broad.mit.edu	37	12	95228192	95228192	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:95228192C>A	ENST00000385303.1	+	0	19					NR_030171.1																						GCCACTACTACAGGACCATCG	0.567000													7	63					1.06961e-07	1.51763e-07	1	1	0
LRRTM1	347730	broad.mit.edu	37	2	80529584	80529584	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:80529584G>T	ENST00000295057.3	-	2	2017	c.1361C>A	c.(1360-1362)cCa>cAa	p.P454Q	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P454Q|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	454						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGGCTGGCTGGGAAACACTT	0.572000										HNSCC(69;0.2)			10	64					0.38729	0.392754	1	1	0
SLC35F2	54733	broad.mit.edu	37	11	107677513	107677513	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:107677513C>A	ENST00000525071.1	-	7	1092	c.504G>T	c.(502-504)gtG>gtT	p.V168V	SLC35F2_ENST00000375682.4_Silent_p.V121V|SLC35F2_ENST00000525815.1_Silent_p.V168V|SLC35F2_ENST00000265836.7_Silent_p.V20V|SLC35F2_ENST00000429869.1_Silent_p.V168V			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	168					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GACAGACAGCCACGGCGATGA	0.473000													18	77					3.57192e-18	6.36649e-18	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140968057	140968057	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:140968057G>T	ENST00000277549.5	+	33	4942		c.e33+1		CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTTCAAGGTGGGCCAGGC	0.652000													30	86					8.88839e-20	1.60189e-19	1	1	0
PCNX	22990	broad.mit.edu	37	14	71492888	71492888	+	Missense_Mutation	SNP	G	G	C	rs144712112		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:71492888G>C	ENST00000304743.2	+	14	3684	c.3238G>C	c.(3238-3240)Ggt>Cgt	p.G1080R	PCNX_ENST00000238570.5_Missense_Mutation_p.G1080R|PCNX_ENST00000439984.3_Missense_Mutation_p.G969R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1080						integral to membrane		p.G1080>?(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATATGTTGCGGTCTTATTTG	0.348000													8	103					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73030462	73030462	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:73030462C>A	ENST00000313375.3	-	2	386	c.339G>T	c.(337-339)aaG>aaT	p.K113N	MLXIPL_ENST00000414749.2_Missense_Mutation_p.K113N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.K113N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.K113N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.K113N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.K113N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	113					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCAGAGCAGCTTGAGGCCTT	0.572000													22	62					1.64293e-13	2.73963e-13	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55036733	55036733	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:55036733G>T	ENST00000417545.2	+	5	680	c.594G>T	c.(592-594)ctG>ctT	p.L198L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	182						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGTCCGTGCTGCTGCACATGC	0.478000													7	49					5.18039e-06	6.66345e-06	1	1	0
GLDC	2731	broad.mit.edu	37	9	6620208	6620208	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:6620208C>A	ENST00000321612.6	-	3	596	c.446G>T	c.(445-447)cGg>cTg	p.R149L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	149					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTAAGTTCCGCAAAATCGT	0.443000													34	114					6.02501e-08	8.66263e-08	1	1	0
MUT	4594	broad.mit.edu	37	6	49408046	49408046	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:49408046C>T	ENST00000274813.3	-	11	1956	c.1829G>A	c.(1828-1830)cGt>cAt	p.R610H		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	610					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCGACCTTCACGTTCCATGAA	0.353000													18	91					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944871	4944871	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:4944871G>T	ENST00000321961.2	-	1	766	c.699C>A	c.(697-699)caC>caA	p.H233Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCGCTCCTGGTGGGAGGCAA	0.552000													18	92					2.35188e-11	3.74795e-11	1	1	0
NRG3	10718	broad.mit.edu	37	10	84745032	84745032	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:84745032C>A	ENST00000372142.2	+	11	1445	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	NRG3_ENST00000556918.1_Missense_Mutation_p.Q418K|NRG3_ENST00000404547.1_Missense_Mutation_p.Q612K|NRG3_ENST00000404576.2_Missense_Mutation_p.Q392K|NRG3_ENST00000545131.1_Missense_Mutation_p.Q238K|NRG3_ENST00000372141.2_Missense_Mutation_p.Q588K|NRG3_ENST00000537893.1_Missense_Mutation_p.Q238K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	612					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AACCTGCCTGCAAATGCCAGG	0.453000													52	136					6.31075e-24	1.16993e-23	1	1	0
CRB2	286204	broad.mit.edu	37	9	126132439	126132439	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:126132439C>A	ENST00000373631.3	+	7	1108	c.1107C>A	c.(1105-1107)caC>caA	p.H369Q	CRB2_ENST00000373629.2_Missense_Mutation_p.H37Q|CRB2_ENST00000359999.3_Missense_Mutation_p.H369Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	369	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCTGCCTGCACGGCGGAACCT	0.597000													6	94					0.0293803	0.030759	1	1	0
FNDC3B	64778	broad.mit.edu	37	3	172025188	172025188	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:172025188G>T	ENST00000336824.4	+	10	1196	c.1097G>T	c.(1096-1098)tGc>tTc	p.C366F	FNDC3B_ENST00000415807.2_Missense_Mutation_p.C366F|FNDC3B_ENST00000416957.1_Missense_Mutation_p.C366F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	366	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AAGGGATCCTGCTCCGAGCCT	0.498000													23	84					2.32416e-17	4.09736e-17	1	1	0
SHC2	25759	broad.mit.edu	37	19	422251	422251	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:422251C>A	ENST00000264554.6	-	11	1514	c.1515G>T	c.(1513-1515)ggG>ggT	p.G505G		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	505	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGAAGTCCCCGTCAGCTC	0.697000													3	30					1	1	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686013	125686013	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:125686013G>T	ENST00000371126.1	-	1	821	c.579C>A	c.(577-579)caC>caA	p.H193Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	193										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCAGTCCTTGTGGCCATGGC	0.677000													8	39					0.000442599	0.000515039	1	1	0
FAM69B	138311	broad.mit.edu	37	9	139616663	139616663	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:139616663G>A	ENST00000371691.1	+	2	1231	c.132G>A	c.(130-132)gcG>gcA	p.A44A	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Silent_p.A131A			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	131						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GGTCGGATGCGGCCCCCCGGC	0.632000													6	57					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121158875	121158875	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:121158875T>A	ENST00000264233.5	-	27	7481	c.7353A>T	c.(7351-7353)ccA>ccT	p.P2451P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2451					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTTGATTCCTGGCAAATATC	0.343000								DNA polymerases (catalytic subunits)					13	70					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945880	150945880	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:150945880G>A	ENST00000261800.5	-	1	2625	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	871	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCCCCAGTGAGAGGGTGGA	0.562000													16	84					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167571239	167571239	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:167571239C>T	ENST00000366834.1	-	1	578	c.81G>A	c.(79-81)ctG>ctA	p.L27L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	27						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCAGCAGACCCAGCCCACACT	0.662000													8	31					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118466	58118466	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:58118466G>A	ENST00000373944.3	-	7	681	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000318387.2_Missense_Mutation_p.L95F|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000395405.1_Missense_Mutation_p.L215F			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	215					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GTATACAGAAGCTGGAGGAAG	0.522000													8	87					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579442	55579442	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:55579442C>A	ENST00000333973.2	+	1	589	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTAGGATCCCCTTCTATAGA	0.453000													16	238					1.62849e-17	2.88667e-17	1	1	0
MYH7	4625	broad.mit.edu	37	14	23902775	23902775	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:23902775C>A	ENST00000355349.3	-	3	329	c.167G>T	c.(166-168)gGt>gTt	p.G56V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	56	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACTTTGCCACCCTCTCGAGA	0.567000													9	109					6.42651e-13	1.058e-12	1	1	0
TMEFF2	23671	broad.mit.edu	37	2	193059097	193059097	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:193059097T>G	ENST00000409056.3	-	1	153	c.154A>C	c.(154-156)Acc>Ccc	p.T52P	TMEFF2_ENST00000272771.5_Missense_Mutation_p.T52P|TMEFF2_ENST00000392314.1_Missense_Mutation_p.T52P			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	52						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTCCAGCCGGTGGGCGTTTGG	0.597000													19	126					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686366	125686366	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:125686366G>C	ENST00000371126.1	-	1	468	c.226C>G	c.(226-228)Cgg>Ggg	p.R76G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	76										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCGTAGCCCCGCAGCTCGCCA	0.677000													19	87					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70918305	70918305	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:70918305G>T	ENST00000334414.6	-	33	6615	c.6571C>A	c.(6571-6573)Caa>Aaa	p.Q2191K	RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q1883K|PTPRB_ENST00000550358.1_Missense_Mutation_p.Q2103K|RP11-588H23.3_ENST00000549359.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q1883K|PTPRB_ENST00000261266.5_Missense_Mutation_p.Q1973K|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q1883K|RP11-588H23.3_ENST00000547656.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1973					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTTTTCTTGTTCACTCCGT	0.433000													8	39					1.12685e-05	1.42397e-05	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25482500	25482500	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:25482500G>T	ENST00000329474.6	+	12	1258	c.890G>T	c.(889-891)aGt>aTt	p.S297I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	297					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TCCTCTTTAAGTATTCAATTT	0.303000													6	32					0.0215528	0.0227111	1	1	0
FA2H	79152	broad.mit.edu	37	16	74750325	74750325	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:74750325A>C	ENST00000219368.3	-	6	1028	c.959T>G	c.(958-960)tTt>tGt	p.F320C	FA2H_ENST00000544337.1_Missense_Mutation_p.F107C	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	320					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CGGCGAGCCAAAGTGCAGGTA	0.592000													8	26					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287446	16287446	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:16287446C>G	ENST00000343518.6	-	1	491	c.440G>C	c.(439-441)aGg>aCg	p.R147T		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	147								p.R147K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCCGCTCCCCCTGCAGCAGGG	0.587000													21	348					0	0	1	0	0
TMEM68	137695	broad.mit.edu	37	8	56663648	56663648	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:56663648T>C	ENST00000434581.2	-	5	761	c.562A>G	c.(562-564)Agg>Ggg	p.R188G	TMEM68_ENST00000519784.1_Missense_Mutation_p.R74G|TMEM68_ENST00000334667.2_Missense_Mutation_p.R188G|TMEM68_ENST00000523073.1_Missense_Mutation_p.R74G			Q96MH6	TMM68_HUMAN	transmembrane protein 68	188						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TGGCCACTCCTCAGAATTTCA	0.408000													13	180					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188626	140188626	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140188626G>T	ENST00000530339.1	+	1	1854	c.1854G>T	c.(1852-1854)gcG>gcT	p.A618A	PCDHA4_ENST00000356878.4_Silent_p.A618A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A618A	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGCGCGCGCATCCCGT	0.672000													13	100					1.61879e-10	2.49371e-10	1	1	0
PGBD5	79605	broad.mit.edu	37	1	230472947	230472947	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:230472947T>A	ENST00000321327.2	-	6	1071	c.1072A>T	c.(1072-1074)Agc>Tgc	p.S358C	PGBD5_ENST00000391860.1_Missense_Mutation_p.S213C|PGBD5_ENST00000525115.1_Missense_Mutation_p.S259C			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	259						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CGGCACAGGCTCCTGGCCACC	0.547000													8	77					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	175995688	175995688	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:175995688C>G	ENST00000510636.1	+	4	408	c.134C>G	c.(133-135)gCc>gGc	p.A45G	CDHR2_ENST00000261944.5_Missense_Mutation_p.A45G|CDHR2_ENST00000506348.1_Missense_Mutation_p.A45G	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	45	Cadherin 1.				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						GGTGCCCAGGCCTTCTGGTTG	0.627000													14	63					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141242990	141242990	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:141242990T>A	ENST00000287008.3	-	3	3053	c.2906A>T	c.(2905-2907)tAt>tTt	p.Y969F	PCDH1_ENST00000394536.3_Missense_Mutation_p.Y969F|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.Y947F|PCDH1_ENST00000456271.1_Missense_Mutation_p.Y957F|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	969					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTTAGAGCGATAGTGGCGGCC	0.622000													5	14					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171431738	171431738	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:171431738C>A	ENST00000356327.5	-	9	926	c.856G>T	c.(856-858)Gtg>Ttg	p.V286L	PLD1_ENST00000342215.6_Missense_Mutation_p.V286L|PLD1_ENST00000340989.4_Missense_Mutation_p.V286L|PLD1_ENST00000351298.4_Missense_Mutation_p.V286L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	286	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCTTCCCCACCTTAATTTTG	0.348000													14	111					0.000219431	0.000261459	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162459369	162459369	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:162459369C>T	ENST00000306100.5	-	10	1697	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	FSTL5_ENST00000536695.1_Missense_Mutation_p.V420M|FSTL5_ENST00000427802.2_Missense_Mutation_p.V420M|FSTL5_ENST00000379164.4_Missense_Mutation_p.V420M	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	421	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTCATCCACTCCTGCTTCA	0.428000													42	233					0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509377	22509377	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:22509377C>A	ENST00000390448.3	+	0	384																											AAGACTCAGCCACTTATCTCT	0.478000													8	28					7.48243e-07	1.0235e-06	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165218838	165218838	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:165218838G>C	ENST00000342310.3	-	4	685	c.303C>G	c.(301-303)atC>atG	p.I101M	LMX1A_ENST00000367893.4_Missense_Mutation_p.I101M|LMX1A_ENST00000294816.2_Missense_Mutation_p.I101M	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	101	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CATTGGGAGCGATGGCCTCGA	0.537000													4	40					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66935728	66935728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:66935728C>A	ENST00000359742.4	-	3	379	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	GRIP1_ENST00000286445.7_Nonsense_Mutation_p.E47*|GRIP1_ENST00000398016.3_Nonsense_Mutation_p.E47*			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	47					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)		CCCTTGAATTCCTCTGTTAAA	0.433000													50	200					8.94452e-30	1.67742e-29	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22161201	22161201	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:22161201G>A	ENST00000374695.3	-	77	10770	c.10691C>T	c.(10690-10692)aCa>aTa	p.T3564I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3564	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTGGGATTGTGTGGTGCCAGC	0.612000													15	53					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37693266	37693266	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:37693266C>T	ENST00000412232.2	+	13	2041	c.2028C>T	c.(2026-2028)acC>acT	p.T676T	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	676					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGTGGCCACCCCCGTCATCT	0.647000													10	74					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112688182	112688182	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:112688182C>A	ENST00000550722.1	-	25	3674		c.e25-1		HECTD4_ENST00000377560.5_Splice_Site|HECTD4_ENST00000430131.2_Splice_Site	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCACTGGCACCTGAGCAGACA	0.498000													6	71					0.00116845	0.00133331	1	1	0
OR10A2	341276	broad.mit.edu	37	11	6891001	6891001	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:6891001C>A	ENST00000307322.4	+	1	78	c.16C>A	c.(16-18)Ctg>Atg	p.L6M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTCTCTTCCCTGCCTACTGA	0.443000													21	310					1.87028e-06	2.47459e-06	1	1	0
CNPY1	285888	broad.mit.edu	37	7	155301645	155301645	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:155301645G>T	ENST00000321736.5	-	2	250	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K	CNPY1_ENST00000406197.1_Missense_Mutation_p.Q30K	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	30										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTAAATTCTTGGTATATTTTG	0.393000													5	100					0.184627	0.188711	1	1	0
FBN2	2201	broad.mit.edu	37	5	127664437	127664437	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:127664437G>C	ENST00000508053.1	-	40	5396	c.4422C>G	c.(4420-4422)tgC>tgG	p.C1474W	FBN2_ENST00000507835.1_Missense_Mutation_p.C324W|FBN2_ENST00000508989.1_Missense_Mutation_p.C1441W|FBN2_ENST00000262464.4_Missense_Mutation_p.C1474W			P35556	FBN2_HUMAN	fibrillin 2	1474	EGF-like 24; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTCACACTCGCAGCGATATG	0.473000													8	58					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899928	112899928	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:112899928C>A	ENST00000374530.3	+	8	2284	c.2104C>A	c.(2104-2106)Ctt>Att	p.L702I	AKAP2_ENST00000434623.2_Missense_Mutation_p.L560I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L702I|AKAP2_ENST00000510514.5_Missense_Mutation_p.L702I|AKAP2_ENST00000555236.1_Missense_Mutation_p.L702I|AKAP2_ENST00000374525.1_Missense_Mutation_p.L560I|AKAP2_ENST00000259318.7_Missense_Mutation_p.L471I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		471							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCAAGAGGAGCTTGACTCTGG	0.517000													15	135					6.31663e-08	9.06177e-08	1	1	0
TCF4	6925	broad.mit.edu	37	18	52924593	52924593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:52924593C>A	ENST00000354452.3	-	14	1710	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*	TCF4_ENST00000537856.3_Nonsense_Mutation_p.G237*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.G343*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.G364*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.G237*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.G343*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.G296*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.G237*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.G367*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.G367*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.G307*|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564999.1_Nonsense_Mutation_p.G367*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.G469*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.G342*|TCF4_ENST00000561831.3_Nonsense_Mutation_p.G207*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.G296*|TCF4_ENST00000543082.1_Nonsense_Mutation_p.G325*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.G207*|TCF4_ENST00000570287.2_Nonsense_Mutation_p.G207*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.G307*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.G373*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.G343*	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	367					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAGGCCTGTCCTCCATTTCTA	0.408000													26	130					7.76418e-22	1.42711e-21	1	1	0
TLL1	7092	broad.mit.edu	37	4	166929120	166929120	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:166929120G>T	ENST00000061240.2	+	7	1484	c.837G>T	c.(835-837)atG>atT	p.M279I	TLL1_ENST00000507499.1_Missense_Mutation_p.M279I|TLL1_ENST00000513213.1_Missense_Mutation_p.M279I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	279	Metalloprotease (By similarity).				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)		TTCTGAAGATGGAGCCTGGAG	0.413000													9	111					2.17888e-05	2.72676e-05	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47532110	47532110	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr21:47532110G>T	ENST00000300527.4	+	3	437	c.333G>T	c.(331-333)ccG>ccT	p.P111P	COL6A2_ENST00000357838.4_Silent_p.P111P|COL6A2_ENST00000397763.1_Silent_p.P111P|COL6A2_ENST00000310645.5_Silent_p.P111P|COL6A2_ENST00000409416.1_Silent_p.P111P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	111	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCAGCCCACCGGGCAGCGACC	0.652000													7	53					2.7689e-08	4.02579e-08	1	1	0
PSG4	5672	broad.mit.edu	37	19	43708377	43708377	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:43708377G>A	ENST00000405312.3	-	2	328	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	PSG4_ENST00000244295.9_Missense_Mutation_p.P31S|PSG4_ENST00000433626.2_Missense_Mutation_p.P31S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	31					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCAGTTGTGGGCGGATTCCAG	0.473000													13	105					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228195496	228195496	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:228195496G>A	ENST00000353339.3	+	4	634	c.193G>A	c.(193-195)Gga>Aga	p.G65R	MFF_ENST00000354503.6_Missense_Mutation_p.G39R|MFF_ENST00000392059.1_Missense_Mutation_p.G65R|MFF_ENST00000337110.7_Missense_Mutation_p.G39R|MFF_ENST00000409616.1_Missense_Mutation_p.G39R|MFF_ENST00000409565.1_Missense_Mutation_p.G39R|MFF_ENST00000524634.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.G39R|MFF_ENST00000349901.7_Missense_Mutation_p.G39R	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	65						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTGGAACAAGGATTCCAAGA	0.428000													14	62					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137778408	137778408	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:137778408C>G	ENST00000350339.2	+	6	592	c.578C>G	c.(577-579)gCg>gGg	p.A193G	FCN2_ENST00000291744.6_Missense_Mutation_p.A231G	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	231	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GAGGGCAGTGCGGGTGAGTGT	0.582000													26	106					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868603	97868603	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:97868603C>A	ENST00000437310.1	+	1	434	c.374C>A	c.(373-375)gCc>gAc	p.A125D		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	125					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						CGCTATGTAGCCATATGCAAA	0.398000													51	263					2.9001e-28	5.42302e-28	1	1	0
USP7	7874	broad.mit.edu	37	16	8997213	8997213	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:8997213T>C	ENST00000344836.4	-	16	1949	c.1751A>G	c.(1750-1752)tAc>tGc	p.Y584C	USP7_ENST00000381886.4_Missense_Mutation_p.Y568C|USP7_ENST00000535863.1_Missense_Mutation_p.Y485C	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	584					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTCTTCATCGTACATGTCATT	0.423000													9	53					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181977	57181977	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:57181977G>T	ENST00000504228.1	+	6	2414	c.2309G>T	c.(2308-2310)gGg>gTg	p.G770V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G770V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G763V			Q6ZU35	K1211_HUMAN	KIAA1211	770										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)					CGCGAGCTCGGGAAGGGTCCG	0.592000													12	76					6.72482e-11	1.05606e-10	1	1	0
FCRLA	84824	broad.mit.edu	37	1	161682974	161682974	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:161682974C>A	ENST00000540926.1	+	6	1195	c.902C>A	c.(901-903)cCg>cAg	p.P301Q	FCRLA_ENST00000350710.3_Missense_Mutation_p.P77Q|FCRLA_ENST00000546024.1_Missense_Mutation_p.P223Q|FCRLA_ENST00000540521.1_Missense_Mutation_p.P178Q|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000236938.6_Missense_Mutation_p.P312Q|FCRLA_ENST00000367957.2_Missense_Mutation_p.P172Q|FCRLA_ENST00000294796.4_Missense_Mutation_p.P161Q|FCRLA_ENST00000367949.2_Missense_Mutation_p.P128Q|FCRLA_ENST00000367950.1_Missense_Mutation_p.P88Q|FCRLA_ENST00000367953.3_Missense_Mutation_p.P301Q|FCRLA_ENST00000367959.2_Missense_Mutation_p.P318Q|FCRLA_ENST00000349527.4_Missense_Mutation_p.P200Q|FCRLA_ENST00000309691.6_Missense_Mutation_p.P206Q			Q7L513	FCRLA_HUMAN	Fc receptor-like A	295	Pro-rich.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCTCTGCCTCCGCCGCCAACC	0.572000													24	104					2.89027e-11	4.57214e-11	1	1	0
NRK	203447	broad.mit.edu	37	X	105179267	105179267	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:105179267A>T	ENST00000428173.2	+	21	3911	c.3608A>T	c.(3607-3609)cAc>cTc	p.H1203L	NRK_ENST00000243300.9_Missense_Mutation_p.H1202L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1202							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						CCACTAATCCACATGTATGAA	0.393000										HNSCC(51;0.14)			8	87					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89974244	89974244	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:89974244C>A	ENST00000402938.3	-	8	1106	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	GABRR2_ENST00000602399.1_Missense_Mutation_p.D350Y			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	350					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGGTAGATGTCCACGGCCTTG	0.592000													10	63					1.08611e-07	1.53431e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9014602	9014602	+	Silent	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9014602C>G	ENST00000397910.4	-	31	38576	c.38373G>C	c.(38371-38373)ctG>ctC	p.L12791L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12793	SEA 5.			Missing (in Ref. 3; AAK74120).	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						TCAGCTGGCTCAGCTCCCAGT	0.552000													15	185					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100365	110100365	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:110100365C>A	ENST00000518632.1	+	2	975	c.624C>A	c.(622-624)acC>acA	p.T208T	TRHR_ENST00000311762.2_Silent_p.T208T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	208						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCCTGGCTACCGTCCTCTATG	0.388000													32	81					3.80469e-20	6.87608e-20	1	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277145	71277145	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:71277145G>A	ENST00000398531.1	+	1	537	c.512G>A	c.(511-513)aGc>aAc	p.S171N	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.S123N	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	171	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						tgccagtccagctgctgtgtc	0.622000													35	185					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26506850	26506850	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:26506850C>A	ENST00000376261.3	+	3	719	c.216C>A	c.(214-216)gcC>gcA	p.A72A	GAD2_ENST00000259271.3_Silent_p.A72A	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	72					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ggAAGGCCGCCTGCGCCTGCG	0.692000													25	46					1.64293e-13	2.73963e-13	1	1	0
C9	735	broad.mit.edu	37	5	39311243	39311243	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:39311243C>A	ENST00000263408.4	-	7	1202	c.1107G>T	c.(1105-1107)cgG>cgT	p.R369R		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	369	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCATACCTTTCCGCTTCATGG	0.373000													27	105					4.22769e-11	6.67151e-11	1	1	0
MBD4	8930	broad.mit.edu	37	3	129158650	129158650	+	Silent	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:129158650C>G	ENST00000429544.2	-	1	222	c.27G>C	c.(25-27)ctG>ctC	p.L9L	MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000249910.1_Silent_p.L9L|MBD4_ENST00000503197.1_Silent_p.L9L|MBD4_ENST00000507208.1_Silent_p.L9L|MBD4_ENST00000393278.2_Silent_p.L9L	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	9					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CCCCCAGACTCAGACTCTCCA	0.652000								Base excision repair (BER), DNA glycosylases					3	18					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196616	55196616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:55196616G>A	ENST00000340465.2	+	2	212	c.126G>A	c.(124-126)tgG>tgA	p.W42*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	42						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)			AACATGCTTGGAGAGTAATGG	0.328000													8	56					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249616	110249616	+	Silent	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:110249616G>C	ENST00000374672.4	-	3	1532	c.1059C>G	c.(1057-1059)ccC>ccG	p.P353P		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	353	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GCATCTGATCGGGCAGGAAGG	0.647000													3	23					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103377	53103377	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:53103377G>T	ENST00000408890.4	+	1	29	c.13G>T	c.(13-15)Gct>Tct	p.A5S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	5										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCGCTGCAGCTCCGGCCGA	0.701000													6	12					0.0215528	0.0227111	1	1	0
FLG	2312	broad.mit.edu	37	1	152276706	152276706	+	Silent	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:152276706A>T	ENST00000368799.1	-	3	10691	c.10656T>A	c.(10654-10656)tcT>tcA	p.S3552S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3552	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)			ACCACCTCTCAGAGTCTTCTG	0.582000									Ichthyosis				160	405					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51638314	51638314	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:51638314G>T	ENST00000375695.2	+	4	532	c.379G>T	c.(379-381)Gcc>Tcc	p.A127S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A71S|MAGED1_ENST00000375722.1_Missense_Mutation_p.A71S|MAGED1_ENST00000326587.7_Missense_Mutation_p.A71S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	71					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TTCAGCAGCTGCCGCTAGGCC	0.532000										Multiple Myeloma(10;0.10)			3	28					0.150653	0.154719	1	1	0
ACAP1	9744	broad.mit.edu	37	17	7246853	7246853	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:7246853G>T	ENST00000158762.3	+	6	706	c.500G>T	c.(499-501)cGg>cTg	p.R167L	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	167	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCTGGGTACCGGGGACGGGCA	0.652000													9	77					3.09899e-07	4.30267e-07	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40397449	40397449	+	Silent	SNP	C	C	A	rs137879982		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:40397449C>A	ENST00000542756.1	-	6	2018	c.1995G>T	c.(1993-1995)ccG>ccT	p.P665P	SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.P662P|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.P665P|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Silent_p.P670P|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Silent_p.P670P			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	670					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGAGAGAATCGGATGTTCTC	0.423000													13	68					4.3838e-07	6.04759e-07	1	1	0
GRM5	2915	broad.mit.edu	37	11	88386527	88386527	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:88386527C>A	ENST00000418177.2	-	4	1323	c.956G>T	c.(955-957)cGa>cTa	p.R319L	GRM5_ENST00000393297.1_Missense_Mutation_p.R319L|GRM5_ENST00000305447.4_Missense_Mutation_p.R319L|GRM5_ENST00000305432.5_Missense_Mutation_p.R319L|GRM5_ENST00000455756.2_Missense_Mutation_p.R319L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	319					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AACAGCTTCTCGCTGATATCC	0.453000													12	66					1.5842e-08	2.31895e-08	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225652093	225652093	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:225652093A>T	ENST00000409592.3	-	49	5535	c.5422T>A	c.(5422-5424)Tac>Aac	p.Y1808N	DOCK10_ENST00000258390.7_Missense_Mutation_p.Y1814N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1814	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACACACATGTATAGCTGCTCC	0.423000													48	281					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833515	176833515	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:176833515C>G	ENST00000367654.2	-	23	3827	c.3814G>C	c.(3814-3816)Gac>Cac	p.D1272H	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.D1264H			O14525	ASTN1_HUMAN	astrotactin 1	1272					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						TCCGCCCAGTCAAGTCCGTAG	0.567000													7	145					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32421568	32421568	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:32421568C>A	ENST00000332351.3	-	6	1308	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	WT1_ENST00000379079.2_Missense_Mutation_p.D130Y|WT1_ENST00000530998.1_Missense_Mutation_p.D113Y|WT1_ENST00000448076.3_Missense_Mutation_p.D342Y	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	274			M -> R (in DDS).		adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGTGGTTATCGCTCTCGTAC	0.542000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				5	41					0.014758	0.0158086	1	1	0
TNN	63923	broad.mit.edu	37	1	175054578	175054578	+	Silent	SNP	G	G	A	rs143851746	by1000genomes	TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:175054578G>A	ENST00000239462.4	+	6	1385	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	424	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)		TCACGGTGGTGCCCATGAGAG	0.567000													3	26					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038705	75038705	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:75038705G>T	ENST00000326665.5	-	14	2907	c.2689C>A	c.(2689-2691)Cag>Aag	p.Q897K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	897	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						TCTAAACCCTGTTCCCCTTCA	0.507000													53	305					1.73933e-33	3.29048e-33	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2048736	2048736	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:2048736G>T	ENST00000262113.4	+	20	2652	c.2511G>T	c.(2509-2511)gtG>gtT	p.V837V	MYOM2_ENST00000523438.1_Silent_p.V262V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	837	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGGCCCCTGTGTACTCCGGCA	0.547000													5	60					0.014758	0.0158086	1	1	0
BPI	671	broad.mit.edu	37	20	36952440	36952440	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:36952440G>T	ENST00000262865.4	+	8	1026	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	313					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GACCCTTAGAGATGACATGGT	0.527000													5	46					0.184627	0.188711	1	1	0
LILRA4	23547	broad.mit.edu	37	19	54850362	54850362	+	Translation_Start_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:54850362C>A	ENST00000291759.4	-	1	59	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	1						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GAATGAGGGTCATGGCATCTC	0.587000													5	86					3.59834e-05	4.44298e-05	1	1	0
NCAN	1463	broad.mit.edu	37	19	19338191	19338191	+	Missense_Mutation	SNP	G	G	C	rs150327139		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:19338191G>C	ENST00000252575.5	+	8	1805	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	NCAN_ENST00000538881.1_Missense_Mutation_p.E39Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	588					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCTGGAGCTAGAGAAAGCCGA	0.677000													10	78					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136657	40136657	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:40136657G>T	ENST00000278198.2	-	2	3149	c.1186C>A	c.(1186-1188)Cat>Aat	p.H396N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H396N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H396N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H396N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	396	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TACGCCCCATGTGTCATGACT	0.468000													29	202					3.99451e-17	7.02295e-17	1	1	0
ZXDA	7789	broad.mit.edu	37	X	57935970	57935970	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:57935970C>A	ENST00000358697.4	-	1	1097	c.885G>T	c.(883-885)caG>caT	p.Q295H		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	295	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GCCTCTGGCCCTGGCTGCTGC	0.632000													3	26					1	1	1	1	0
IFRD2	7866	broad.mit.edu	37	3	50329971	50329971	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:50329971G>T	ENST00000336089.4	-	3	286	c.286_splice	c.e3-1	p.A96_splice	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	101							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGGCGGCTAGCTGCGCGTAG	0.657000													4	41					0.00909568	0.00984098	1	1	0
GAD2	2572	broad.mit.edu	37	10	26506849	26506849	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:26506849C>A	ENST00000376261.3	+	3	718	c.215C>A	c.(214-216)gCc>gAc	p.A72D	GAD2_ENST00000259271.3_Missense_Mutation_p.A72D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	72					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	cggAAGGCCGCCTGCGCCTGC	0.692000													25	45					1.64293e-13	2.73963e-13	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3238886	3238886	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:3238886G>T	ENST00000217939.6	-	5	4994	c.4840C>A	c.(4840-4842)Cta>Ata	p.L1614I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1614						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGTTGGTAGGATGGGTTTG	0.507000													34	195					4.62619e-21	8.43139e-21	1	1	0
TRPC4AP	26133	broad.mit.edu	37	20	33609144	33609144	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:33609144G>A	ENST00000252015.2	-	9	1156	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P317L|TRPC4AP_ENST00000451813.1_Intron|TRPC4AP_ENST00000539834.1_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	356	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCTGGAGGAGGGAACACAAT	0.537000													9	55					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	224188	224188	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:224188C>A	ENST00000382743.4	-	5	961	c.859G>T	c.(859-861)Gtg>Ttg	p.V287L	SIRT3_ENST00000532956.1_Intron|SIRT3_ENST00000529382.1_Missense_Mutation_p.V145L|SIRT3_ENST00000524564.1_Missense_Mutation_p.V223L|SIRT3_ENST00000525319.1_Missense_Mutation_p.V206L	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	287	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCGGGCTTCACAACGCCGGTG	0.582000													10	42					0.00621372	0.00686054	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160763720	160763720	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:160763720T>A	ENST00000274547.2	-	7	815	c.598A>T	c.(598-600)Aca>Tca	p.T200S	GABRB2_ENST00000520240.1_Missense_Mutation_p.T200S|GABRB2_ENST00000517547.1_Missense_Mutation_p.T40S|GABRB2_ENST00000353437.6_Missense_Mutation_p.T200S|GABRB2_ENST00000517901.1_Missense_Mutation_p.T137S|GABRB2_ENST00000393959.1_Missense_Mutation_p.T200S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	200					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)	GTTACTCCTGTTACTGCATTA	0.368000													15	94					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37853203	37853203	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:37853203G>T	ENST00000324411.4	+	6	775	c.506G>T	c.(505-507)gGc>gTc	p.G169V	HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000589392.1_Missense_Mutation_p.G151V|HKR1_ENST00000392153.3_Missense_Mutation_p.G150V|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.G108V	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCTTTAGTGGCAAAGCAGAA	0.458000													7	56					2.0095e-06	2.63721e-06	1	1	0
SS18L1	26039	broad.mit.edu	37	20	60738638	60738638	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:60738638G>T	ENST00000331758.3	+	6	707	c.681G>T	c.(679-681)atG>atT	p.M227I	SS18L1_ENST00000370848.4_Missense_Mutation_p.M230I|SS18L1_ENST00000421564.1_Missense_Mutation_p.M227I	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	227	Gln-rich.|Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCAGCATGATGGGGCAGCGGC	0.721000			T	SSX1	synovial sarcoma								6	22					4.096e-09	6.05048e-09	1	1	0
TMEM260	54916	broad.mit.edu	37	14	57083905	57083905	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:57083905A>G	ENST00000261556.6	+	9	1068	c.946A>G	c.(946-948)Aga>Gga	p.R316G	TMEM260_ENST00000538838.1_Missense_Mutation_p.R316G|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		TTGTAGGGACAGACAGAATCC	0.259000													13	43					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210942	59210942	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:59210942G>A	ENST00000302030.2	+	1	326	c.301G>A	c.(301-303)Gct>Act	p.A101T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGTGGGCTGTGCTGCTCAGTT	0.493000													19	182					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745853	77745853	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:77745853G>T	ENST00000409088.3	-	3	1556	c.1142C>A	c.(1141-1143)cCt>cAt	p.P381H	LRRTM4_ENST00000409282.1_Missense_Mutation_p.P382H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P382H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P381H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P381H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	381						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GATAATCAGAGGTTTCTGGGG	0.483000													6	55					0.0215528	0.0227111	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50955097	50955097	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:50955097C>A	ENST00000374103.4	-	9	1230	c.1145G>T	c.(1144-1146)cGt>cTt	p.R382L	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173L|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					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						GGCATCTCCACGGTAGAACTG	0.642000													8	111					0.00621372	0.00686054	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1615916	1615916	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:1615916G>T	ENST00000381580.1	-	4	1158	c.979C>A	c.(979-981)Cct>Act	p.P327T	SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.P360T|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	360	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.P360T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACCTCACCAGGGGTAGCATCT	0.438000													17	56					5.01169e-05	6.15288e-05	1	1	0
PSG8	440533	broad.mit.edu	37	19	43259277	43259277	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:43259277G>T	ENST00000404209.4	-	4	947	c.851C>A	c.(850-852)cCc>cAc	p.P284H	PSG8_ENST00000306511.4_Missense_Mutation_p.P284H|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.P191H|PSG8_ENST00000406636.3_Missense_Mutation_p.P162H	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	284	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTTTACCCTGGGACTGACCGG	0.463000													43	247					2.53126e-37	4.81684e-37	1	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993594	96993594	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:96993594G>C	ENST00000361124.4	+	1	1660	c.1249G>C	c.(1249-1251)Gtg>Ctg	p.V417L	ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.V401L|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.V409L|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.V401L	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	409						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGAAGCTGGTGGGGCGCTT	0.592000													25	96					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26220606	26220606	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:26220606G>T	ENST00000405154.2	+	4	1297	c.1098G>T	c.(1096-1098)gaG>gaT	p.E366D	RASSF8_ENST00000381352.3_Missense_Mutation_p.E366D|RASSF8_ENST00000282884.9_Missense_Mutation_p.E366D|RASSF8_ENST00000541490.1_Missense_Mutation_p.E366D|RASSF8_ENST00000542865.1_Missense_Mutation_p.E366D	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	366					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TGCCAGCGGAGCCCATTGAAA	0.428000													58	75					8.81991e-31	1.65886e-30	1	1	0
ITGB6	3694	broad.mit.edu	37	2	161051903	161051903	+	Silent	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:161051903T>G	ENST00000283249.2	-	4	807	c.570A>C	c.(568-570)ccA>ccC	p.P190P	ITGB6_ENST00000409872.1_Silent_p.P190P|ITGB6_ENST00000428609.2_Silent_p.P148P|ITGB6_ENST00000409967.2_Silent_p.P190P|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	190	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAATTTCTTCTGGTGTTGTTT	0.448000													5	80					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117630	37117630	+	Silent	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:37117630C>G	ENST00000435416.1	+	3	2323	c.828C>G	c.(826-828)ctC>ctG	p.L276L	ZNF382_ENST00000423582.1_Silent_p.L228L|ZNF382_ENST00000439428.1_Silent_p.L276L|ZNF382_ENST00000292928.2_Silent_p.L277L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L277L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGAAATTCCTCTGCAGAAAGC	0.408000													19	165					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772716	27772716	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr15:27772716G>T	ENST00000333743.6	+	8	1257	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	335					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GATGGAGTATGCCACCCTCAA	0.547000													5	27					0.000602214	0.000697017	1	1	0
TNN	63923	broad.mit.edu	37	1	175067503	175067503	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:175067503G>T	ENST00000239462.4	+	9	2004	c.1891G>T	c.(1891-1893)Gtg>Ttg	p.V631L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	631	Fibronectin type-III 5.				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)		GACTGACCGGGTGACAGAGAA	0.537000													57	169					1.73933e-33	3.29048e-33	1	1	0
ZBTB47	92999	broad.mit.edu	37	3	42705736	42705736	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:42705736G>C	ENST00000457842.3	+	6	2171	c.762G>C	c.(760-762)aaG>aaC	p.K254N	ZBTB47_ENST00000232974.6_Missense_Mutation_p.K630N|ZBTB47_ENST00000505904.1_Missense_Mutation_p.K176N	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CAGGAGAGAAGCCGTACATCT	0.677000													5	39					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213556	9213556	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9213556G>C	ENST00000305456.2	-	1	426	c.427C>G	c.(427-429)Cgc>Ggc	p.R143G		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCCACATAGCGGTCATAGGCC	0.498000													11	78					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156711055	156711055	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:156711055G>A	ENST00000264424.8	+	5	569	c.487G>A	c.(487-489)Gac>Aac	p.D163N	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.D95N|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.D143N|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.D95N|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.D185N|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.D163N|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.D95N	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	163					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACTGAAATAGACATGAAGGT	0.368000													17	89					0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118899022	118899022	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:118899022C>A	ENST00000545985.1	-	4	1019	c.263G>T	c.(262-264)gGc>gTc	p.G88V	SLC37A4_ENST00000538950.1_Missense_Mutation_p.G15V|SLC37A4_ENST00000330775.7_Missense_Mutation_p.G88V|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.G88V	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	88			G -> D (in GSD1B).		glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GTTGACCAGGCCAACCAGGAG	0.577000													3	10					0.004672	0.00519379	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56313106	56313106	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:56313106C>A	ENST00000443188.1	-	7	2714		c.e7-1		NLRP11_ENST00000589093.1_Splice_Site|NLRP11_ENST00000589824.2_Splice_Site|NLRP11_ENST00000360133.3_Splice_Site|NLRP11_ENST00000592953.1_Splice_Site	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAGGACAACCTGTGGAAGAC	0.448000													10	57					0.000442599	0.000515039	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745854	77745854	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:77745854G>T	ENST00000409088.3	-	3	1555	c.1141C>A	c.(1141-1143)Cct>Act	p.P381T	LRRTM4_ENST00000409282.1_Missense_Mutation_p.P382T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P382T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P381T|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P381T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	381						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATAATCAGAGGTTTCTGGGGA	0.478000													6	52					0.0215528	0.0227111	1	1	0
FAM114A2	10827	broad.mit.edu	37	5	153406750	153406750	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:153406750C>T	ENST00000351797.4	-	7	851	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	FAM114A2_ENST00000520313.1_Missense_Mutation_p.E189K|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E259K|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E259K	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	259							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						ATTTCACTTTCTTGGGAAAGC	0.383000													15	67					0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481533	21481533	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:21481533A>G	ENST00000448696.3	-	1	779	c.161T>C	c.(160-162)cTa>cCa	p.L54P	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	54					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						CCTGTGTGGTAGACACTGCTG	0.403000													15	65					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147063199	147063199	+	Splice_Site	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:147063199G>A	ENST00000370467.3	+	1	351	c.277_splice	c.e1+1	p.G93_splice		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	93						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGCTCCGGTGAGTGCTG	0.607000													29	115					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1545401	1545401	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:1545401G>T	ENST00000262319.6	+	3	669	c.390G>T	c.(388-390)gaG>gaT	p.E130D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	130						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCCTGCGCGAGGGCCGGCTGG	0.687000													3	10					1	1	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204587305	204587305	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:204587305T>A	ENST00000367175.1	-	1	4028	c.1816A>T	c.(1816-1818)Acc>Tcc	p.T606S	LRRN2_ENST00000367177.3_Missense_Mutation_p.T606S|LRRN2_ENST00000367176.3_Missense_Mutation_p.T606S			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	606					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCAACTGGGTGTGGGCATCA	0.622000													11	33					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32620403	32620403	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:32620403A>T	ENST00000266086.4	-	13	1527	c.1516T>A	c.(1516-1518)Tat>Aat	p.Y506N	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	506					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTGTTCCATAAGCAAACTCT	0.438000													4	62					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118723759	118723759	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:118723759C>A	ENST00000371527.1	-	2	2281	c.1629G>T	c.(1627-1629)gaG>gaT	p.E543D	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.E543D|NKRF_ENST00000542113.1_Missense_Mutation_p.E558D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	543					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTTTGTAAGCCTCCTCTGCTG	0.433000													14	336					9.31168e-06	1.18131e-05	1	1	0
MBL2	4153	broad.mit.edu	37	10	54528052	54528052	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:54528052G>T	ENST00000373968.3	-	4	656	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	198	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTTCCTGTCAGATCCACAAAC	0.478000													74	404					3.86735e-44	7.42485e-44	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158224786	158224786	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:158224786C>T	ENST00000296526.7	+	3	637	c.312C>T	c.(310-312)tgC>tgT	p.C104C	GRIA2_ENST00000264426.9_Silent_p.C104C|GRIA2_ENST00000393815.2_Silent_p.C57C|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000449365.1_Silent_p.C57C|GRIA2_ENST00000507898.1_Silent_p.C57C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	104					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.C104C(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CATCATTTTGCGGAACACTCC	0.433000													19	186					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119077	3119077	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:3119077C>A	ENST00000304094.1	+	1	163	c.163C>A	c.(163-165)Ctt>Att	p.L55I		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGATGTTCGCCTTCACAACCC	0.463000													16	276					1.00905e-13	1.69572e-13	1	1	0
FGG	2266	broad.mit.edu	37	4	155533354	155533354	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:155533354C>A	ENST00000404648.3	-	3	363		c.e3-1		FGG_ENST00000405164.1_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000336098.3_Splice_Site	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AATAACTACCCTGAAAATATA	0.323000													4	34					0.150653	0.154719	1	1	0
C9orf84	158401	broad.mit.edu	37	9	114454122	114454122	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:114454122G>C	ENST00000394779.3	-	23	4070	c.3826C>G	c.(3826-3828)Cag>Gag	p.Q1276E	C9orf84_ENST00000318737.4_Missense_Mutation_p.Q1315E|C9orf84_ENST00000374287.3_Missense_Mutation_p.Q1315E|C9orf84_ENST00000394777.4_Missense_Mutation_p.Q1241E	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1315										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						GCAGTCTGCTGTGCACCATAT	0.378000													12	116					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134010561	134010561	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:134010561G>T	ENST00000338492.4	+	6	741	c.577G>T	c.(577-579)Gcc>Tcc	p.A193S	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A116S|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A116S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	193					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGACCTGGGGGCCTTGGCCCA	0.687000													6	18					0.0215528	0.0227111	1	1	0
CDH18	1016	broad.mit.edu	37	5	19747265	19747265	+	Silent	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:19747265A>T	ENST00000507958.1	-	6	1299	c.309T>A	c.(307-309)atT>atA	p.I103I	CDH18_ENST00000511273.1_Silent_p.I103I|CDH18_ENST00000274170.4_Silent_p.I103I|CDH18_ENST00000382275.1_Silent_p.I103I|CDH18_ENST00000506372.1_Silent_p.I103I|CDH18_ENST00000502796.1_Silent_p.I103I			Q13634	CAD18_HUMAN	cadherin 18, type 2	103	Cadherin 1.				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)					TGGTATCGTCAATGATAAATA	0.433000													11	133					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851311	234851311	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:234851311G>T	ENST00000324695.4	+	6	658	c.618G>T	c.(616-618)gaG>gaT	p.E206D	TRPM8_ENST00000355722.4_Missense_Mutation_p.E156D|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.E129D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	206						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGAGTTCAGAGGAGAATATTG	0.547000													21	136					1.87028e-06	2.47459e-06	1	1	0
DUSP22	56940	broad.mit.edu	37	6	311963	311963	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:311963G>T	ENST00000419235.2	+	3	216		c.e3+1		DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000605035.1_Splice_Site|DUSP22_ENST00000344450.5_Splice_Site|DUSP22_ENST00000605863.1_Intron			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TATGTTGGAGGTAAGAGAGCA	0.512000													6	57					1.6384e-10	2.51792e-10	1	1	0
ABL2	27	broad.mit.edu	37	1	179078092	179078092	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:179078092G>A	ENST00000502732.1	-	12	2513	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	ABL2_ENST00000344730.3_Intron|ABL2_ENST00000512653.1_Silent_p.A755A|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000367623.4_Silent_p.A749A|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000408940.3_Silent_p.A734A|ABL2_ENST00000511413.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	770	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGTCATCACTGGCTGTGGGTT	0.527000			T	ETV6	AML								35	178					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18330504	18330504	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:18330504A>T	ENST00000396253.3	-	5	720	c.258T>A	c.(256-258)tgT>tgA	p.C86*	HPS5_ENST00000531848.1_Nonsense_Mutation_p.C86*|HPS5_ENST00000438420.2_Nonsense_Mutation_p.C86*|HPS5_ENST00000349215.3_Nonsense_Mutation_p.C200*	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	200						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTCAGTGTCACACAAGAAGG	0.398000									Hermansky-Pudlak syndrome				15	58					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131557572	131557572	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:131557572G>T	ENST00000306010.7	+	4	506	c.474G>T	c.(472-474)gcG>gcT	p.A158A		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	158										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CCAAAGCCGCGCGAGCAGTGG	0.562000								Direct reversal of damage					40	98					7.63091e-17	1.33799e-16	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70249928	70249928	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:70249928G>T	ENST00000342771.4	+	16	2468	c.2146_splice	c.e16-1	p.G716_splice	AUTS2_ENST00000406775.2_Splice_Site_p.G692_splice	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	716										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACTTAACAGGTGCTGCACAC	0.498000													10	78					0.0581538	0.0604911	1	1	0
SERPINA3	12	broad.mit.edu	37	14	95081396	95081396	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:95081396C>A	ENST00000553947.1	+	5	1581	c.693C>A	c.(691-693)gtC>gtA	p.V231V	SERPINA3_ENST00000393078.3_Silent_p.V206V|SERPINA3_ENST00000393080.4_Silent_p.V206V|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Silent_p.V206V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	206					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CAATGATGGTCCTGGTGAATT	0.473000													11	122					2.27111e-07	3.16683e-07	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64675246	64675246	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:64675246C>A	ENST00000421419.2	-	17	2595	c.2481G>T	c.(2479-2481)aaG>aaT	p.K827N	ATG2A_ENST00000377264.3_Missense_Mutation_p.K827N			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	827							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGTAGACCTCCTTGCTGGGCA	0.642000													3	30					6.4e-05	7.81455e-05	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57437123	57437123	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:57437123C>T	ENST00000442789.2	-	12	1199	c.912G>A	c.(910-912)gaG>gaA	p.E304E	MYO1A_ENST00000300119.3_Silent_p.E304E|MYO1A_ENST00000544473.1_Silent_p.E142E	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	304	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGCCCACCATCTCCCCAATCT	0.488000													19	83					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190203601	190203601	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:190203601C>G	ENST00000367462.3	-	5	856	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E107Q	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		209						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTCCGTGTTTCTGTTACCTGG	0.388000													5	89					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3801726	3801726	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:3801726C>A	ENST00000262367.5	-	20	4589		c.e20+1		CREBBP_ENST00000382070.3_Splice_Site	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.?(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGTACTTACGTCTGGGGCT	0.488000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	36					0.0215528	0.0227111	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8524982	8524982	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:8524982C>A	ENST00000381196.4	-	15	1165	c.622G>T	c.(622-624)Gtt>Ttt	p.V208F	PTPRD_ENST00000397611.3_Missense_Mutation_p.V205F|PTPRD_ENST00000486161.1_Missense_Mutation_p.V208F|PTPRD_ENST00000537002.1_Missense_Mutation_p.V205F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V208F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V202F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V199F|PTPRD_ENST00000360074.4_Missense_Mutation_p.V199F|PTPRD_ENST00000397617.3_Missense_Mutation_p.V202F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V208F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V208F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	208	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGGTGGCAACACACTCATAT	0.463000										TSP Lung(15;0.13)			70	197					4.09166e-32	7.71809e-32	1	1	0
GABRR2	2570	broad.mit.edu	37	6	89974245	89974245	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:89974245C>A	ENST00000402938.3	-	8	1105	c.972G>T	c.(970-972)gtG>gtT	p.V324V	GABRR2_ENST00000602399.1_Silent_p.V349V			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	349					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GGTAGATGTCCACGGCCTTGA	0.592000													10	64					1.08611e-07	1.53431e-07	1	1	0
FLG	2312	broad.mit.edu	37	1	152276900	152276900	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:152276900G>T	ENST00000368799.1	-	3	10497	c.10462C>A	c.(10462-10464)Caa>Aaa	p.Q3488K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3488	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q3488K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACGAGTTTGTCTGCTGGCA	0.557000									Ichthyosis				168	478					2.00539e-72	3.8847e-72	1	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269721	150269721	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:150269721C>G	ENST00000255945.2	+	3	738	c.563C>G	c.(562-564)gCg>gGg	p.A188G	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.A202G	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	188							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)		CGCTACTGTGCGTTAAACAAC	0.527000													10	142					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514753	157514753	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:157514753C>A	ENST00000361835.3	-	4	584	c.427G>T	c.(427-429)Gca>Tca	p.A143S	FCRL5_ENST00000368190.3_Missense_Mutation_p.A143S|FCRL5_ENST00000368189.3_Missense_Mutation_p.A143S|FCRL5_ENST00000368191.3_Missense_Mutation_p.A58S|FCRL5_ENST00000356953.4_Missense_Mutation_p.A143S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	143						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)				TTAAGGAATGCCAGGACATTA	0.418000													46	166					6.87076e-12	1.10857e-11	1	1	0
OTOF	9381	broad.mit.edu	37	2	26705354	26705354	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:26705354C>G	ENST00000272371.2	-	14	1625	c.1499G>C	c.(1498-1500)cGa>cCa	p.R500P	OTOF_ENST00000403946.3_Missense_Mutation_p.R500P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	500	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCGAGTCTCGGATCTGCAC	0.557000													13	115					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33370043	33370043	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:33370043C>T	ENST00000374796.2	-	4	2686	c.116G>A	c.(115-117)aGt>aAt	p.S39N	NCOA6_ENST00000359003.2_Missense_Mutation_p.S39N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	39	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AATACTATCACTTTTTGTGTC	0.343000													11	69					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157076	145157076	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:145157076G>C	ENST00000558170.2	-	8	2862	c.1678C>G	c.(1678-1680)Cgt>Ggt	p.R560G	ZEB2_ENST00000409487.3_Missense_Mutation_p.R560G|ZEB2_ENST00000303660.4_Missense_Mutation_p.R560G|ZEB2_ENST00000539609.3_Missense_Mutation_p.R536G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	560						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTAAAGTACGTAGCTTCTCT	0.393000													14	154					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033435	37033435	+	Silent	SNP	A	A	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:37033435A>C	ENST00000322716.5	-	1	1360	c.1134T>G	c.(1132-1134)ctT>ctG	p.L378L		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	378						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CAAAGTCACAAAGCCATTGTT	0.403000													53	323					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049680	9049680	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9049680C>G	ENST00000397910.4	-	5	32154	c.31951G>C	c.(31951-31953)Gca>Cca	p.A10651P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10653	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A6284S(1)|p.A10651S(1)		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						GGGGTCAGTGCATCTAGTTCA	0.473000													9	84					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231036426	231036426	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:231036426C>A	ENST00000258381.6	-	17	1950	c.1873G>T	c.(1873-1875)Ggc>Tgc	p.G625C	SP110_ENST00000358662.4_Intron	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	605	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AATGGGATGCCCGTAAAAAAG	0.433000													8	95					0.000157383	0.000187873	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35966465	35966465	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:35966465C>A	ENST00000297866.5	+	4	618	c.552C>A	c.(550-552)ccC>ccA	p.P184P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	184										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCCAATTACCCATCCTCATTT	0.403000													23	154					1.9806e-07	2.77971e-07	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55698960	55698960	+	Silent	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:55698960C>G	ENST00000376350.3	-	14	2509	c.2487G>C	c.(2485-2487)ctG>ctC	p.L829L	PTPRH_ENST00000263434.5_Silent_p.L651L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	829	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGTGGCCCACCAGGGAGAGTT	0.597000													9	89					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882044	68882044	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:68882044G>C	ENST00000303786.3	+	3	938	c.518G>C	c.(517-519)cGg>cCg	p.R173P	PROKR1_ENST00000394342.2_Missense_Mutation_p.R173P			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	173						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGAGACCACGGATGAAGTGC	0.522000													28	121					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825613	64825613	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:64825613C>T	ENST00000358658.3	-	2	322	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	NAALADL1_ENST00000340252.4_Missense_Mutation_p.A99T|NAALADL1_ENST00000339885.2_Missense_Mutation_p.A99T|NAALADL1_ENST00000355721.3_Missense_Mutation_p.A99T|NAALADL1_ENST00000356632.3_Missense_Mutation_p.A99T|NAALADL1_ENST00000355369.2_Missense_Mutation_p.A99T	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	99					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TACGTGGAGGCCTCGGCCGAG	0.667000													13	71					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562145	11562145	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:11562145G>T	ENST00000294484.6	+	2	1234	c.1096_splice	c.e2+1	p.G366_splice	PTCHD2_ENST00000389575.3_Splice_Site_p.G366_splice	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	366					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)		GGACATCCGGGGTGAGCCGCC	0.647000													12	25					2.61681e-11	4.1599e-11	1	1	0
KLHL5	51088	broad.mit.edu	37	4	39098377	39098377	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:39098377G>T	ENST00000261425.3	+	7	1331	c.1179G>T	c.(1177-1179)atG>atT	p.M393I	KLHL5_ENST00000359687.2_Missense_Mutation_p.M439I|KLHL5_ENST00000381930.3_Missense_Mutation_p.M439I|KLHL5_ENST00000508137.2_Missense_Mutation_p.M252I|KLHL5_ENST00000504108.1_Missense_Mutation_p.M439I|KLHL5_ENST00000261426.5_Missense_Mutation_p.M378I	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	439						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AACTCATTATGGAAGCAATGA	0.373000													8	99					0.00307968	0.00345929	1	1	0
AQR	9716	broad.mit.edu	37	15	35174838	35174838	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr15:35174838T>A	ENST00000156471.5	-	27	3255	c.3030A>T	c.(3028-3030)gaA>gaT	p.E1010D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1010						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGCTCTGAATTCCTATGGAA	0.378000													21	73					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229519	140229519	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140229519G>T	ENST00000378122.3	+	1	2163	c.1439G>T	c.(1438-1440)cGg>cTg	p.R480L	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R480L|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTGCGCGGGACGCTGAC	0.657000													33	154					6.00712e-18	1.06775e-17	1	1	0
FRY	10129	broad.mit.edu	37	13	32731475	32731475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:32731475G>T	ENST00000380250.3	+	16	2213	c.1717G>T	c.(1717-1719)Gaa>Taa	p.E573*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTGATAAAGAAGTAGGAAG	0.358000													15	92					2.32078e-09	3.44392e-09	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539573	56539573	+	Silent	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:56539573C>G	ENST00000390649.3	+	7	1974	c.1974C>G	c.(1972-1974)ccC>ccG	p.P658P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	658						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)		GTCCCGTTCCCCTGGGGGTGA	0.582000													15	87					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72310318	72310318	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:72310318A>G	ENST00000579490.1	+	12	2087	c.1952A>G	c.(1951-1953)gAa>gGa	p.E651G	DNAI2_ENST00000307504.5_Silent_p.G399G|DNAI2_ENST00000311014.6_Missense_Mutation_p.E594G|DNAI2_ENST00000446837.2_Missense_Mutation_p.E594G|DNAI2_ENST00000582036.1_Missense_Mutation_p.E582G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	594					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						gcagcgggggaagaaggggat	0.562000									Kartagener syndrome				6	77					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95750595	95750595	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:95750595T>C	ENST00000416240.2	-	18	2129	c.1939A>G	c.(1939-1941)Aca>Gca	p.T647A	SLC25A13_ENST00000542654.1_Missense_Mutation_p.T538A|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000265631.5_Missense_Mutation_p.T646A	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	646					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCTGCAAATGTAGCAACTGCC	0.468000													6	101					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157073704	157073704	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:157073704C>A	ENST00000265007.6	-	3	1669	c.1328G>T	c.(1327-1329)cGc>cTc	p.R443L	SOX30_ENST00000311371.5_Missense_Mutation_p.R443L|SOX30_ENST00000519442.1_Missense_Mutation_p.R138L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	443					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTAGGTGAGCGGTAAGGATA	0.393000													17	145					2.35188e-11	3.74795e-11	1	1	0
GPAT2	150763	broad.mit.edu	37	2	96690230	96690230	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:96690230G>T	ENST00000434632.1	-	16	2073	c.1614C>A	c.(1612-1614)caC>caA	p.H538Q	GPAT2_ENST00000377137.3_Missense_Mutation_p.H538Q|GPAT2_ENST00000453542.1_Missense_Mutation_p.H467Q|GPAT2_ENST00000359548.4_Missense_Mutation_p.H538Q			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	538					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTTGTGCCAGGTGTGTGAGGC	0.662000													12	70					3.07112e-06	3.98199e-06	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105819895	105819895	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:105819895G>T	ENST00000353479.5	-	14	1413	c.1123C>A	c.(1123-1125)Cct>Act	p.P375T	COL17A1_ENST00000369733.3_Missense_Mutation_p.P375T|COL17A1_ENST00000393211.3_Missense_Mutation_p.P375T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	375	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATGCTGGCAGGGGAGGCTGTA	0.517000													22	61					8.10497e-08	1.1576e-07	1	1	0
NUCB1	4924	broad.mit.edu	37	19	49404089	49404089	+	Silent	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:49404089G>C	ENST00000405315.4	+	2	370	c.36G>C	c.(34-36)ctG>ctC	p.L12L	NUCB1_ENST00000407032.1_Silent_p.L12L|NUCB1_ENST00000263273.5_Silent_p.L12L|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	12						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCCTCCTTctgttgccgctgc	0.647000													4	44					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897767	104897767	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:104897767G>A	ENST00000507740.1	+	2	600	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000436393.2_Missense_Mutation_p.V92M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V122M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V314M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	345	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATGAGGATGTGGAAAGCAG	0.423000										HNSCC(12;0.0054)			7	90					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840085	57840085	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:57840085G>T	ENST00000321545.4	+	4	1600	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GATTCACACTGGGGAGAAGCC	0.493000													13	65					1.61879e-10	2.49371e-10	1	1	0
GDF9	2661	broad.mit.edu	37	5	132197389	132197389	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:132197389A>T	ENST00000378673.2	-	3	2123	c.1257T>A	c.(1255-1257)tgT>tgA	p.C419*	GDF9_ENST00000296875.2_Nonsense_Mutation_p.C419*			O60383	GDF9_HUMAN	growth differentiation factor 9	419					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGCAGGTACACATGACGGTC	0.483000													21	124					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170537532	170537532	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:170537532C>A	ENST00000447353.1	-	2	384	c.279G>T	c.(277-279)tgG>tgT	p.W93C		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		ATGTATTAGTCCAGTGTTTTA	0.378000													23	138					1.55469e-16	2.71129e-16	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31692433	31692433	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:31692433T>A	ENST00000319386.3	+	14	3674	c.2681T>A	c.(2680-2682)gTc>gAc	p.V894D	CCDC129_ENST00000407970.3_Missense_Mutation_p.V1042D|CCDC129_ENST00000409210.1_Missense_Mutation_p.V950D|CCDC129_ENST00000451887.2_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1042										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GATGCAGATGTCTTCCTCTAG	0.433000													60	127					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	422252	422252	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:422252C>A	ENST00000264554.6	-	11	1513	c.1514G>T	c.(1513-1515)gGg>gTg	p.G505V		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	505	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAAGTCCCCGTCAGCTCG	0.697000													3	30					1	1	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133381391	133381391	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:133381391T>C	ENST00000204726.3	-	7	2066	c.1508A>G	c.(1507-1509)aAc>aGc	p.N503S	GOLGA3_ENST00000537452.1_Missense_Mutation_p.N503S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.N503S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.N503S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N503S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	503					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGCAAGTCGTTGTTGGACGA	0.587000													7	95					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39382780	39382780	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:39382780G>A	ENST00000545653.1	-	9	1748	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	DAB2_ENST00000509337.1_Silent_p.S406S|DAB2_ENST00000320816.6_Silent_p.S427S|DAB2_ENST00000339788.6_Intron	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	427					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TAATGGCTATGGAGTCATGTG	0.502000													37	105					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32841377	32841377	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:32841377C>A	ENST00000380250.3	+	55	8513	c.8017C>A	c.(8017-8019)Cag>Aag	p.Q2673K	FRY_ENST00000542859.1_Missense_Mutation_p.Q43K	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.Q2673K(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCCGCCTTTCAGCCCGCAGC	0.542000													13	139					1.61879e-10	2.49371e-10	1	1	0
SYT8	90019	broad.mit.edu	37	11	1858270	1858270	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:1858270C>A	ENST00000341958.3	+	7	1176	c.874C>A	c.(874-876)Ccc>Acc	p.P292T	SYT8_ENST00000381968.3_Missense_Mutation_p.P306T|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	306	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACGGCGGCCCCCTACTTCAA	0.617000													7	81					0.000157383	0.000187873	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70478695	70478695	+	Silent	SNP	C	C	A	rs149111202	by1000genomes	TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:70478695C>A	ENST00000310961.5	+	14	1492	c.1074C>A	c.(1072-1074)cgC>cgA	p.R358R	LRRC7_ENST00000035383.5_Silent_p.R353R|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	353						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						TGTCTCTACGCTCCAACAAAT	0.313000													21	149					2.79863e-10	4.27055e-10	1	1	0
CFP	5199	broad.mit.edu	37	X	47487552	47487552	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:47487552C>A	ENST00000247153.3	-	4	593	c.352G>T	c.(352-354)Ggg>Tgg	p.G118W	CFP_ENST00000480317.1_5'UTR|CFP_ENST00000396992.3_Missense_Mutation_p.G118W|CFP_ENST00000377005.2_Missense_Mutation_p.G118W	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	118	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TCCAGGGTCCCAGGTGCCACC	0.657000													9	43					3.86212e-05	4.75055e-05	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024694	55024694	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:55024694G>T	ENST00000324000.3	+	3	2887	c.853G>T	c.(853-855)Gtc>Ttc	p.V285F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	285					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AATGCAACATGTCAACAGGTG	0.403000													13	144					0.00136819	0.00155849	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11676247	11676247	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:11676247C>G	ENST00000423059.3	-	2	783	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	178						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCTTGGGCTCAAAGTACTCA	0.512000										HNSCC(18;0.044)			29	79					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619554	52619554	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:52619554T>G	ENST00000600228.1	-	4	1124	c.863A>C	c.(862-864)cAg>cCg	p.Q288P	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATGAATTCTCTGATGAACTGC	0.398000													8	101					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45595766	45595766	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:45595766C>A	ENST00000336156.4	-	8	1068	c.1003G>T	c.(1003-1005)Gac>Tac	p.D335Y	KIAA0930_ENST00000251993.7_Missense_Mutation_p.D340Y|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Missense_Mutation_p.D301Y|KIAA0930_ENST00000443310.3_Missense_Mutation_p.D317Y	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	335							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCACCGTCGTCCTCCCGGAAG	0.567000													14	143					9.31168e-06	1.18131e-05	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173996700	173996700	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:173996700G>T	ENST00000457714.1	+	6	1338	c.909G>T	c.(907-909)tgG>tgT	p.W303C	NLGN1_ENST00000401917.3_Missense_Mutation_p.W343C|NLGN1_ENST00000545397.1_Missense_Mutation_p.W303C|NLGN1_ENST00000361589.4_Missense_Mutation_p.W303C|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	320					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTTCCAGCTGGGCTGTTAGTT	0.398000													14	97					4.36969e-10	6.60558e-10	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136086	64136086	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:64136086C>T	ENST00000395254.3	+	2	414	c.134C>T	c.(133-135)gCc>gTc	p.A45V	ZNF365_ENST00000395255.3_Missense_Mutation_p.A45V|ZNF365_ENST00000410046.3_Missense_Mutation_p.A45V|ZNF365_ENST00000466727.1_Intron	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)					TCCTTGAGGGCCCATCTGGAG	0.502000													12	63					0	0	1	0	0
ZNF674	641339	broad.mit.edu	37	X	46360723	46360723	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:46360723C>A	ENST00000523374.1	-	6	511	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	ZNF674_ENST00000414387.2_Missense_Mutation_p.D95Y	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						AGAAATTTGTCTTGGCTTTCC	0.363000													14	261					7.93312e-07	1.07379e-06	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21936088	21936088	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:21936088C>A	ENST00000542643.2	-	16	1353	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.D351Y|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.D351Y|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.D415Y|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.D382Y	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	351	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ACAGCGGGGTCCGGGAGGGGG	0.617000													14	148					0.000151284	0.000181935	1	1	0
SOX30	11063	broad.mit.edu	37	5	157065288	157065288	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:157065288G>T	ENST00000265007.6	-	4	2171	c.1830C>A	c.(1828-1830)ttC>ttA	p.F610L	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.F305L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	610	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGAAAAGAGAATCTTGGTG	0.483000													14	72					7.93312e-07	1.07379e-06	1	1	0
CCNYL2	414194	broad.mit.edu	37	10	42928803	42928803	+	RNA	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:42928803C>G	ENST00000483242.3	-	0	698					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						CAGTAGATACCTGAAGGGGAA	0.343000													9	50					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188280	57188280	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:57188280G>T	ENST00000331162.4	-	5	1112	c.842C>A	c.(841-843)tCc>tAc	p.S281Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S281Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGTGCTGAGGAGCGCCTAAA	0.458000													35	77					7.11191e-15	1.21409e-14	1	1	0
ADCY8	114	broad.mit.edu	37	8	131861946	131861946	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:131861946G>T	ENST00000286355.5	-	10	4406	c.2314C>A	c.(2314-2316)Cgg>Agg	p.R772R	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	772					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R772W(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAGTTTTCCGGAGGATGAGG	0.448000										HNSCC(32;0.087)			10	96					4.84862e-15	8.29909e-15	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587148	55587148	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:55587148C>A	ENST00000333976.4	+	1	63	c.43C>A	c.(43-45)Ctc>Atc	p.L15I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACGTTCACCCTCTTGGGCTT	0.428000													13	97					7.93312e-07	1.07379e-06	1	1	0
KBTBD3	143879	broad.mit.edu	37	11	105924887	105924887	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:105924887C>A	ENST00000526793.1	-	3	688	c.529G>T	c.(529-531)Gta>Tta	p.V177L	KBTBD3_ENST00000531837.1_Missense_Mutation_p.V177L|KBTBD3_ENST00000534815.1_Missense_Mutation_p.V98L	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	173	BACK.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TGATGTTGTACAAAGTGTAAT	0.289000													8	35					0.000157383	0.000187873	1	1	0
CATSPERB	79820	broad.mit.edu	37	14	92150224	92150224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:92150224C>A	ENST00000256343.3	-	11	1084	c.928G>T	c.(928-930)Gaa>Taa	p.E310*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	310					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)				AATTTACCTTCAAAGTGCTCT	0.308000													5	68					1.23904e-05	1.55662e-05	1	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140746036	140746036	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140746036G>T	ENST00000518069.1	+	1	2139	c.2139G>T	c.(2137-2139)gtG>gtT	p.V713V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_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)			TGCTGCTGGTGCTCAGACTGA	0.622000													39	317					8.69298e-16	1.50787e-15	1	1	0
GRB10	2887	broad.mit.edu	37	7	50737540	50737540	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:50737540T>A	ENST00000403097.1	-	6	1145	c.365A>T	c.(364-366)cAg>cTg	p.Q122L	GRB10_ENST00000401949.1_Missense_Mutation_p.Q128L|GRB10_ENST00000407526.1_Missense_Mutation_p.Q70L|GRB10_ENST00000402578.1_Missense_Mutation_p.Q70L|GRB10_ENST00000402497.1_Missense_Mutation_p.Q70L|GRB10_ENST00000335866.3_Missense_Mutation_p.Q70L|GRB10_ENST00000406641.1_Missense_Mutation_p.Q70L|GRB10_ENST00000357271.5_Missense_Mutation_p.Q128L|GRB10_ENST00000439599.1_Missense_Mutation_p.Q122L|GRB10_ENST00000398812.2_Missense_Mutation_p.Q128L|GRB10_ENST00000398810.2_Missense_Mutation_p.Q70L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	128					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCTAAACTGCTGGTCTTCCTC	0.577000									Russell-Silver syndrome				6	37					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156784816	156784816	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:156784816G>T	ENST00000537611.2	-	2	177	c.131C>A	c.(130-132)tCc>tAc	p.S44Y	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	44						integral to membrane|plasma membrane											AAAGGAAGTGGAGATGGCAAA	0.453000													8	125					0.000157383	0.000187873	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27804710	27804710	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:27804710C>T	ENST00000261716.3	+	5	857	c.338C>T	c.(337-339)tCg>tTg	p.S113L	TAOK1_ENST00000536202.1_Missense_Mutation_p.S113L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	113	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATCTGCTTCGGATTTACTA	0.204000													6	29					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24830861	24830861	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:24830861G>T	ENST00000379068.3	+	29	3220	c.3177G>T	c.(3175-3177)aaG>aaT	p.K1059N	POLA1_ENST00000379059.3_Missense_Mutation_p.K1053N			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1053					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGAAAAAAAAGAAGTACGCTG	0.388000													6	130					3.59834e-05	4.44298e-05	1	1	0
TAB3	257397	broad.mit.edu	37	X	30852176	30852176	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:30852176G>T	ENST00000378933.1	-	7	2159	c.1982C>A	c.(1981-1983)gCt>gAt	p.A661D	TAB3_ENST00000378932.2_Missense_Mutation_p.A633D|TAB3_ENST00000378930.3_Missense_Mutation_p.A661D|TAB3_ENST00000288422.2_Missense_Mutation_p.A661D	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	661	Poly-Ala.				activation of MAPK 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|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACCATCTGCAGCTGCTGCCTG	0.433000													4	47					2.56e-06	3.33935e-06	1	1	0
CHUK	1147	broad.mit.edu	37	10	101961868	101961868	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:101961868C>G	ENST00000370397.7	-	14	1632	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	516					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		ATGGCCTTTTCTTCCATTTCT	0.323000													7	66					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31388716	31388716	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:31388716A>T	ENST00000328111.2	+	18	2302	c.1981A>T	c.(1981-1983)Agg>Tgg	p.R661W	DNMT3B_ENST00000456297.2_Missense_Mutation_p.R565W|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R653W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R641W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R641W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R599W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R641W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	661					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATCCAGCCAGGAAAGGCCT	0.542000													32	150					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047172	220047172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:220047172G>T	ENST00000430297.2	+	9	1589	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	485	Poly-Glu.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGAAGAAGAGGCACTCAC	0.612000													16	97					1.3612e-06	1.82718e-06	1	1	0
LOC349160	349160	broad.mit.edu	37	7	136849018	136849018	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:136849018C>A	ENST00000439694.1	-	0	164				AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA																							GCTTCCTGACCGGGAAAACAG	0.537000													13	52					5.50884e-06	7.03001e-06	1	1	0
SMG7	9887	broad.mit.edu	37	1	183515282	183515282	+	Missense_Mutation	SNP	C	C	G	rs114197007	by1000genomes	TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:183515282C>G	ENST00000367537.3	+	18	2696	c.2501C>G	c.(2500-2502)cCt>cGt	p.P834R	SMG7_ENST00000508461.1_Missense_Mutation_p.P809R|SMG7_ENST00000515829.2_Missense_Mutation_p.P805R|SMG7_ENST00000347615.2_Missense_Mutation_p.P851R|SMG7_ENST00000507469.1_Missense_Mutation_p.P805R|SMG7_ENST00000456731.2_Missense_Mutation_p.P763R			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	851	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAATGAAGCCTTTTCCCATG	0.453000													10	102					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580787	11580787	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:11580787C>G	ENST00000294484.6	+	10	2382	c.2244C>G	c.(2242-2244)agC>agG	p.S748R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S748R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	748					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)		TGTTCGCCAGCCGGCTCCGCC	0.652000													5	39					0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716496	49716496	+	Translation_Start_Site	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr15:49716496T>A	ENST00000267843.4	+	2	613	c.2T>A	c.(1-3)aTg>aAg	p.M1K	FGF7_ENST00000560270.1_Start_Codon_SNP_p.M1K|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	1					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	TACACTATAATGCACAAATGG	0.383000													30	190					0	0	1	0	0
APOC2	344	broad.mit.edu	37	19	45452002	45452002	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:45452002C>G	ENST00000585786.1	+	2	293	c.100C>G	c.(100-102)Ccg>Gcg	p.P34A	APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.P111A|APOC4-APOC2_ENST00000252490.4_Missense_Mutation_p.P34A|APOC4-APOC2_ENST00000419266.2_3'UTR|APOC4-APOC2_ENST00000591597.1_3'UTR|APOC2_ENST00000590360.1_Missense_Mutation_p.P34A					apolipoprotein C-II											kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GATGCCTAGCCCGACCTTCCT	0.607000													24	90					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79432749	79432749	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:79432749G>T	ENST00000554719.1	+	9	2149	c.1658_splice	c.e9+1	p.G553_splice	NRXN3_ENST00000335750.5_Splice_Site_p.G553_splice	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	146					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGTCAAGGGGTAAGTAGAA	0.418000													11	204					2.27111e-07	3.16683e-07	1	1	0
NAV3	89795	broad.mit.edu	37	12	78513132	78513132	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:78513132C>A	ENST00000397909.2	+	15	3329	c.3156C>A	c.(3154-3156)ccC>ccA	p.P1052P	NAV3_ENST00000266692.7_Silent_p.P1052P|NAV3_ENST00000536525.2_Silent_p.P1052P|NAV3_ENST00000228327.6_Silent_p.P1052P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1052	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAAAAAGCCCCCCTCAGGCA	0.488000										HNSCC(70;0.22)			33	142					2.2171e-23	4.09847e-23	1	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435387	104435387	+	RNA	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:104435387C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GATTCTGAAGCCTGAGGATGC	0.398000													13	93					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692767	135692767	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:135692767C>T	ENST00000513104.1	-	2	591	c.309G>A	c.(307-309)ctG>ctA	p.L103L	TRPC7_ENST00000355180.3_Silent_p.L103L|TRPC7_ENST00000426057.2_Silent_p.L103L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	103					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCACCCGTGCCAGGTTCTCCT	0.647000													19	78					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231060705	231060705	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:231060705C>A	ENST00000366661.4	-	14	1610	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S	TTC13_ENST00000414259.1_Missense_Mutation_p.A482S|TTC13_ENST00000366662.4_Missense_Mutation_p.A482S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	535							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACCTCCAATGCGGCCAAACCC	0.463000													27	125					1.5548e-18	2.77888e-18	1	1	0
GABRA5	2558	broad.mit.edu	37	15	27128315	27128315	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr15:27128315C>A	ENST00000335625.5	+	5	1099	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	GABRA5_ENST00000355395.5_Missense_Mutation_p.R71S|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71S|GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	71					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTTCAGAGCGCATCACTCA	0.612000													4	38					0.00909568	0.00984098	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31391126	31391126	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:31391126G>A	ENST00000268296.4	+	25	3038	c.2917G>A	c.(2917-2919)Gtg>Atg	p.V973M	ITGAX_ENST00000562522.1_Missense_Mutation_p.V973M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	973					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAACTTCTGGGTGCCTGTGGA	0.602000													13	41					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729895	237729895	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:237729895C>A	ENST00000366574.2	+	28	3560	c.3243C>A	c.(3241-3243)acC>acA	p.T1081T	RYR2_ENST00000542537.1_Silent_p.T1065T|RYR2_ENST00000360064.6_Silent_p.T1079T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1081	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T1079T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAGCGGCACCGGGGAAAGGT	0.517000													4	63					0.00909568	0.00984098	1	1	0
CCSER1	401145	broad.mit.edu	37	4	91230686	91230686	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:91230686G>T	ENST00000509176.1	+	2	1539	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N	CCSER1_ENST00000333691.8_Missense_Mutation_p.K417N|CCSER1_ENST00000432775.2_Missense_Mutation_p.K417N	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CAGATTCAAAGATAATACCTA	0.353000													20	77					1.96292e-10	3.0095e-10	1	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338608	13338608	+	RNA	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:13338608T>A	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						CTGTGTGTGCTGACCATGGTG	0.483000													12	88					0	0	1	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592194	22592194	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:22592194C>A	ENST00000390455.3	+	0	488																											TGATCCTGCCCCACGCTACGC	0.498000													5	47					1.024e-07	1.45931e-07	1	1	0
OR10V1	390201	broad.mit.edu	37	11	59481066	59481066	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:59481066G>T	ENST00000307552.2	-	1	271	c.253C>A	c.(253-255)Ctc>Atc	p.L85I	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATTGAAAGGAGGTTTGCCAAG	0.478000													6	52					3.59834e-05	4.44298e-05	1	1	0
SNRNP40	9410	broad.mit.edu	37	1	31769578	31769578	+	Silent	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:31769578A>T	ENST00000263694.4	-	1	39	c.21T>A	c.(19-21)cgT>cgA	p.R7R	SNRNP40_ENST00000446633.2_Silent_p.R7R	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	7						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CTGGGCCCTTACGCTTCTGCT	0.647000													6	77					0	0	1	0	0
TSPAN14	81619	broad.mit.edu	37	10	82269138	82269138	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:82269138G>T	ENST00000429989.2	+	5	584	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	TSPAN14_ENST00000372164.3_Missense_Mutation_p.D104Y|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D121Y|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D121Y	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	121						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CTGGGTGAGGGACCGGTTCCG	0.577000													18	64					1.00905e-13	1.69572e-13	1	1	0
GPR123	84435	broad.mit.edu	37	10	134886387	134886387	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:134886387G>T	ENST00000607359.1	+	3	421	c.421G>T	c.(421-423)Gat>Tat	p.D141Y				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGGCCGTGCAGATGGGAAGGC	0.592000													8	25					0.0477658	0.0497656	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58601749	58601749	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:58601749C>A	ENST00000600404.1	-	2	83	c.54G>T	c.(52-54)ctG>ctT	p.L18L	ZSCAN18_ENST00000240727.6_5'UTR|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_5'UTR	NM_001145542.1	NP_001139014.1	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	301					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGAACCCACAGACCTGCAG	0.587000													3	13					0.004672	0.00519379	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536581	27536581	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:27536581C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCCTGATCCTCTGCTTTCCAC	0.527000													29	103					7.38237e-10	1.11079e-09	1	1	0
MECP2	4204	broad.mit.edu	37	X	153296438	153296438	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:153296438C>A	ENST00000303391.6	-	4	1090	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	MECP2_ENST00000453960.2_Missense_Mutation_p.A293S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	281					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	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)					TTGGCCTCGGCGGCAGCGGCT	0.612000													24	125					1.77063e-15	3.05493e-15	1	1	0
GPATCH1	55094	broad.mit.edu	37	19	33600881	33600881	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:33600881G>T	ENST00000170564.2	+	11	1858	c.1544G>T	c.(1543-1545)cGa>cTa	p.R515L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	515						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AAGCAAAAGCGATACGACGAG	0.542000													8	71					0.00448238	0.00501747	1	1	0
MYOC	4653	broad.mit.edu	37	1	171621537	171621537	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:171621537T>A	ENST00000037502.5	-	1	274	c.215A>T	c.(214-216)cAt>cTt	p.H72L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	72					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)					CTGTAAGTTATGGATGACTGA	0.562000													20	106					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188050	140188050	+	Silent	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140188050C>G	ENST00000530339.1	+	1	1278	c.1278C>G	c.(1276-1278)acC>acG	p.T426T	PCDHA4_ENST00000356878.4_Silent_p.T426T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T426T	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGACCGCGCGAGACG	0.627000													38	182					0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23740786	23740786	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:23740786C>A	ENST00000379303.5	-	7	613		c.e7+1		ACOT9_ENST00000336430.7_Splice_Site|ACOT9_ENST00000379295.1_Splice_Site|ACOT9_ENST00000492081.1_Splice_Site	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9						acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATATCACTTACCAATCTTATC	0.348000													6	118					0.00116845	0.00133331	1	1	0
MYH13	8735	broad.mit.edu	37	17	10247286	10247286	+	Silent	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:10247286A>T	ENST00000418404.3	-	15	1888	c.1725T>A	c.(1723-1725)gcT>gcA	p.A575A	MYH13_ENST00000252172.4_Silent_p.A575A|MYH13_ENST00000570743.1_Silent_p.A575A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	575	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						AGTGAGCCTCAGCCTTGCCTT	0.552000													14	121					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1254843	1254843	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:1254843C>T	ENST00000540437.1	-	6	735	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	CPSF3L_ENST00000450926.2_Missense_Mutation_p.G88R|CPSF3L_ENST00000435064.1_Missense_Mutation_p.G88R|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000545578.1_Missense_Mutation_p.G59R	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	88						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TAGATGGGCCCGTCGTAGCCC	0.632000													16	110					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411706	23411706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:23411706C>T	ENST00000379361.4	+	3	2931	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	691					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.R586R(1)|p.R691R(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATACATGGATCGATATGCCTC	0.488000													26	88					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271850	36271850	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:36271850C>T	ENST00000007510.4	+	11	1002	c.858C>T	c.(856-858)gcC>gcT	p.A286A	ARHGAP33_ENST00000378944.5_Silent_p.A150A|ARHGAP33_ENST00000314737.5_Silent_p.A286A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	286					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGAAGCTGGCCGGCCTGCTCC	0.687000													19	100					0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814762	54814762	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:54814762C>A	ENST00000585477.1	+	1	470	c.219C>A	c.(217-219)agC>agA	p.S73R		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		AAAACCTGAGCCAGAAAGCGG	0.542000													3	22					1	1	1	1	0
MSR1	4481	broad.mit.edu	37	8	15978002	15978002	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:15978002C>A	ENST00000262101.5	-	9	1268	c.1147G>T	c.(1147-1149)Gtt>Ttt	p.V383F	MSR1_ENST00000445506.2_Missense_Mutation_p.V401F|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	383	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ACCTGTCCAACGCGCACTTCC	0.557000													8	140					0.0477658	0.0497656	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235331875	235331875	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:235331875C>A	ENST00000264183.3	-	24	4401	c.3904G>T	c.(3904-3906)Gca>Tca	p.A1302S	ARID4B_ENST00000366603.2_Missense_Mutation_p.A1302S|ARID4B_ENST00000349213.3_Missense_Mutation_p.A1216S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1302	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTGTGATGCGCTGGACATT	0.448000													9	61					1.58986e-06	2.1122e-06	1	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140782755	140782755	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140782755C>G	ENST00000573521.1	+	1	236	c.236C>G	c.(235-237)cCg>cGg	p.P79R	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCTGAACCCGCGCAGCGGC	0.622000													18	119					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62612617	62612617	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:62612617C>G	ENST00000535781.1	+	1	130	c.19C>G	c.(19-21)Ccg>Gcg	p.P7A	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	7					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAAGAAGAAACCGTTCCTAGG	0.672000													5	10					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144650388	144650388	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:144650388C>A	ENST00000398882.3	-	11	1944	c.1688G>T	c.(1687-1689)tGg>tTg	p.W563L	MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000534459.1_5'UTR	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		CAGCAGGCCCCAGCAAAAGGC	0.637000													7	17					0.00307968	0.00345929	1	1	0
MUC17	140453	broad.mit.edu	37	7	100684738	100684738	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:100684738C>T	ENST00000306151.4	+	3	10105	c.10041C>T	c.(10039-10041)ttC>ttT	p.F3347F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3347	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATATGTCTTTCAGCACCACGC	0.478000													113	592					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15584408	15584408	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:15584408G>T	ENST00000427411.1	-	17	2298	c.2082C>A	c.(2080-2082)atC>atA	p.I694I	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Silent_p.I694I	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	694					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TTCTAGGAATGATATCAGACA	0.383000													14	293					2.32078e-09	3.44392e-09	1	1	0
MED31	51003	broad.mit.edu	37	17	6547882	6547882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:6547882G>A	ENST00000225728.3	-	4	406	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Nonsense_Mutation_p.Q27*	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						TGTAGAATCTGCTGTTCATCA	0.463000													11	112					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1959083	1959083	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:1959083C>A	ENST00000378585.4	+	5	621	c.538C>A	c.(538-540)Ctg>Atg	p.L180M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	180						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGAGTGCATGCTGGACCTGGA	0.627000													3	20					0.115264	0.119131	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67249975	67249975	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:67249975T>C	ENST00000392676.3	-	33	4344	c.4280A>G	c.(4279-4281)cAg>cGg	p.Q1427R	ABCA5_ENST00000588877.1_Missense_Mutation_p.Q1427R|ABCA5_ENST00000392677.2_Missense_Mutation_p.Q1428R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1427	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TACAGTCTTCTGAAGATGTTC	0.308000													10	156					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30433026	30433026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:30433026G>A	ENST00000358117.5	-	6	996	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	292					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CAGGAACCCTGTGGGTTTGGA	0.408000													6	78					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377785	125377785	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:125377785T>A	ENST00000297913.2	+	1	838	c.769T>A	c.(769-771)Tgg>Agg	p.W257R	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CACCCTCAGTTGGGTCTACTT	0.552000													12	138					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212558	55212558	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:55212558G>A	ENST00000396834.1	+	17	2344	c.1848G>A	c.(1846-1848)ttG>ttA	p.L616L	IL31RA_ENST00000354961.4_Silent_p.L616L|IL31RA_ENST00000490985.1_Silent_p.L493L|IL31RA_ENST00000359040.5_Silent_p.L635L|IL31RA_ENST00000447346.2_Silent_p.L635L	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	603					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGACAAGTTGGTGATTGACA	0.423000													21	76					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758253	99758253	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:99758253G>T	ENST00000423751.1	-	3	710	c.455C>A	c.(454-456)cCc>cAc	p.P152H	GAL3ST4_ENST00000360039.4_Silent_p.T253T|GAL3ST4_ENST00000413800.1_Silent_p.T253T|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.P152H|GAL3ST4_ENST00000426974.2_Silent_p.T191T			Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	251					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGATTGAGGGTTTGGGCTC	0.552000													21	233					9.95505e-16	1.72217e-15	1	1	0
TMCO3	55002	broad.mit.edu	37	13	114164726	114164726	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:114164726G>T	ENST00000434316.2	+	7	1571	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.R404R	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	404						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCAGTGCTCGGGGTGACAAAG	0.522000													17	105					2.23348e-06	2.91932e-06	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36675211	36675211	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:36675211G>A	ENST00000399881.3	+	10	1076	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	347	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.A347T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGTGTGACCGCTTTCCTGAG	0.468000													9	145					0	0	1	0	0
IKBKG	8517	broad.mit.edu	37	X	153780267	153780267	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:153780267G>C	ENST00000393549.2	+	2	173	c.50G>C	c.(49-51)aGt>aCt	p.S17T	IKBKG_ENST00000263518.6_Missense_Mutation_p.S17T|IKBKG_ENST00000455588.2_Missense_Mutation_p.S17T|IKBKG_ENST00000369609.5_Missense_Mutation_p.S85T|IKBKG_ENST00000369606.4_Missense_Mutation_p.S17T|IKBKG_ENST00000369602.3_Missense_Mutation_p.S17T|IKBKG_ENST00000369601.3_Missense_Mutation_p.S17T|IKBKG_ENST00000369607.1_Missense_Mutation_p.S17T|IKBKG_ENST00000470142.1_Missense_Mutation_p.S17T			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	17					activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity			endometrium(1)|lung(1)	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)					GTGCAGCCCAGTGGTGGCCCG	0.602000													15	218					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528528	57528528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:57528528G>T	ENST00000420713.1	+	4	473	c.361G>T	c.(361-363)Gag>Tag	p.E121*		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATGTGGACAGGAGGATTTACA	0.378000													16	91					6.72482e-11	1.05606e-10	1	1	0
CD226	10666	broad.mit.edu	37	18	67562943	67562943	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:67562943C>G	ENST00000280200.4	-	4	989	c.721G>C	c.(721-723)Gcc>Ccc	p.A241P	CD226_ENST00000581982.1_Missense_Mutation_p.A86P|CD226_ENST00000577287.1_Missense_Mutation_p.A86P|CD226_ENST00000582621.1_Missense_Mutation_p.A241P	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	241					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCACCCTCGGCTACAGTCAAT	0.502000													14	211					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859747	43859747	+	RNA	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:43859747G>C	ENST00000378009.4	+	0	421				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GTGGGGTGCAGAGAAGGTATC	0.537000													5	49					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858298	15858298	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr21:15858298C>A	ENST00000285670.2	-	9	1435	c.1261G>T	c.(1261-1263)Gat>Tat	p.D421Y	SAMSN1_ENST00000400564.1_Missense_Mutation_p.D185Y|SAMSN1_ENST00000400566.1_Missense_Mutation_p.D353Y	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	353					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GACTCCAGATCCTCTTTGCCA	0.403000													22	175					1.10923e-09	1.66128e-09	1	1	0
GNLY	10578	broad.mit.edu	37	2	85924798	85924798	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:85924798C>T	ENST00000409696.3	+	5	662	c.380C>T	c.(379-381)aCa>aTa	p.T127I	GNLY_ENST00000524600.1_Missense_Mutation_p.T169I|GNLY_ENST00000263863.4_Missense_Mutation_p.T142I	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	142	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						ATACCTTCTACAGGTGAGTGC	0.542000													9	29					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80643647	80643647	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:80643647G>A	ENST00000307624.3	-	6	627	c.599C>T	c.(598-600)aCa>aTa	p.T200I		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	200	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCCACCAAATGTATTTCCGTG	0.498000													32	371					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177648981	177648981	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:177648981C>T	ENST00000280193.2	-	3	918	c.503G>A	c.(502-504)aGt>aAt	p.S168N	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	168					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CAGCCCCTCACTATTGCAGCA	0.532000													15	83					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230379	155230379	+	Silent	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:155230379C>G	ENST00000355379.3	-	2	416	c.138G>C	c.(136-138)tcG>tcC	p.S46S	SCAMP3_ENST00000302631.3_Silent_p.S72S	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	72					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGAGCTTTCTCGAGGGCTGCA	0.592000													9	113					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9000192	9000192	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9000192G>T	ENST00000397910.4	-	55	40768	c.40565C>A	c.(40564-40566)aCc>aAc	p.T13522N	MUC16_ENST00000380951.5_Missense_Mutation_p.T163N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13524	SEA 10.			Missing (in Ref. 3; AAK74120).	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						GCCAACACTGGTGTTCTTGAA	0.572000													9	76					3.09899e-07	4.30267e-07	1	1	0
KLF4	9314	broad.mit.edu	37	9	110249615	110249615	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:110249615C>T	ENST00000374672.4	-	3	1533	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	354	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TGCATCTGATCGGGCAGGAAG	0.647000													3	24					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178355580	178355580	+	Silent	SNP	G	G	A	rs145465919	byFrequency	TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:178355580G>A	ENST00000264595.2	-	7	889	c.762C>T	c.(760-762)gcC>gcT	p.A254A	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	254					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTGGCTGCGGCTGCCCCTG	0.458000													21	126					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177911050	177911050	+	Silent	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:177911050T>C	ENST00000308284.6	-	16	2096	c.2007A>G	c.(2005-2007)ttA>ttG	p.L669L	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	669					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGAGTTCCACTAATAGCACAG	0.488000													11	123					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127503661	127503661	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:127503661G>A	ENST00000368778.3	-	4	379	c.186C>T	c.(184-186)acC>acT	p.T62T	UROS_ENST00000368774.1_Silent_p.T62T|UROS_ENST00000368797.4_Silent_p.T62T|UROS_ENST00000368786.1_Silent_p.T62T			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	62			T -> A (in CEP; no detectable activity according to PubMed:1737856, while it does not affect enzymatic activity according to PubMed:11689424; dbSNP:rs28941775).		heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CTCTGGGGCTGGTAAAAATGA	0.428000													9	48					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75596161	75596161	+	Translation_Start_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:75596161C>A	ENST00000294638.5	+	0	426				RP11-510C10.3_ENST00000427892.1_RNA|RP11-510C10.2_ENST00000446238.1_RNA	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGGTGTCCCGCGTGGAGCAGG	0.677000													2	2					1	1	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103491489	103491489	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:103491489T>A	ENST00000358392.2	-	6	1117	c.800A>T	c.(799-801)aAa>aTa	p.K267I	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	267	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATCTTCTTTTTGAAATTGGA	0.333000													12	85					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41563706	41563706	+	Silent	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:41563706T>C	ENST00000396942.1	-	18	2135	c.2052A>G	c.(2050-2052)gcA>gcG	p.A684A	ANK1_ENST00000379758.2_Silent_p.A684A|ANK1_ENST00000352337.4_Silent_p.A684A|ANK1_ENST00000396945.1_Silent_p.A684A|ANK1_ENST00000265709.8_Silent_p.A717A|ANK1_ENST00000289734.7_Silent_p.A684A|ANK1_ENST00000347528.4_Silent_p.A684A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	684	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCAGCACATCTGCCACTGGAA	0.532000													7	76					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134952951	134952951	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:134952951G>C	ENST00000292035.5	-	2	289	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V	MED27_ENST00000372184.3_Missense_Mutation_p.L76V|RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000357028.2_Missense_Mutation_p.L38V|MED27_ENST00000474263.1_5'UTR	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	76					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTGCCTACCAGATTGCTCAGA	0.478000													9	121					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703872	3703872	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:3703872C>A	ENST00000378251.1	-	2	645	c.618G>T	c.(616-618)acG>acT	p.T206T		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	206					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGAGGTCCAACGTCTGCAAAG	0.562000													10	32					0.000673444	0.000778068	1	1	0
KBTBD12	166348	broad.mit.edu	37	3	127642718	127642718	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:127642718G>C	ENST00000405109.1	+	2	1281	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.E272Q|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	272										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTATGGTATGGAGACTACCAG	0.418000													27	152					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477962	88477962	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:88477962C>T	ENST00000267549.3	+	2	1329	c.771C>T	c.(769-771)aaC>aaT	p.N257N	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	257					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ATGCTGTGAACTTCGAAGACC	0.383000													5	66					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100926265	100926265	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:100926265G>T	ENST00000548884.1	+	5	1016	c.475G>T	c.(475-477)Gct>Tct	p.A159S	NR1H4_ENST00000551379.1_Missense_Mutation_p.A169S|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Missense_Mutation_p.A159S|NR1H4_ENST00000188403.7_Missense_Mutation_p.A169S	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	169					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TACCAAAAACGCTGTGTACAA	0.418000													8	99					5.18039e-06	6.66345e-06	1	1	0
SGCD	6444	broad.mit.edu	37	5	155771633	155771633	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:155771633A>G	ENST00000435422.3	+	2	622	c.135A>G	c.(133-135)atA>atG	p.I45M	SGCD_ENST00000337851.4_Missense_Mutation_p.I46M|SGCD_ENST00000517913.1_Missense_Mutation_p.I46M|SGCD_ENST00000447401.1_Missense_Mutation_p.I46M	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	45					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGATTTTAATACTGGTGAACT	0.463000													12	86					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187654	57187654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:57187654C>A	ENST00000331162.4	-	5	1738	c.1468G>T	c.(1468-1470)Gag>Tag	p.E490*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TAGGGTTTCTCTCCAGTATGA	0.393000													12	88					1.3612e-06	1.82718e-06	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38266159	38266159	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:38266159C>G	ENST00000379705.3	-	4	2068	c.1211G>C	c.(1210-1212)tGg>tCg	p.W404S	TRPC4_ENST00000379681.3_Missense_Mutation_p.W404S|TRPC4_ENST00000338947.5_Missense_Mutation_p.W231S|TRPC4_ENST00000379673.2_Missense_Mutation_p.W404S|TRPC4_ENST00000426868.2_Missense_Mutation_p.W404S|TRPC4_ENST00000358477.2_Missense_Mutation_p.W404S|TRPC4_ENST00000379679.1_Missense_Mutation_p.W231S|TRPC4_ENST00000447043.1_Missense_Mutation_p.W404S|TRPC4_ENST00000355779.2_Missense_Mutation_p.W404S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	404					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAATATCATCCACTCGACGAT	0.428000													10	70					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36594881	36594881	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:36594881G>C	ENST00000299440.5	+	2	139	c.27G>C	c.(25-27)ttG>ttC	p.L9F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	9	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CACCCACCTTGGGACTCAGTT	0.428000									Familial Hemophagocytic Lymphohistiocytosis				12	101					0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27606081	27606081	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:27606081C>A	ENST00000356537.4	-	6	372	c.279G>T	c.(277-279)acG>acT	p.T93T	CCDC25_ENST00000522915.1_Silent_p.T25T|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Silent_p.T25T	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	93										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TAGACCACGGCGTATATACCA	0.493000													12	154					4.3838e-07	6.04759e-07	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130413277	130413277	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:130413277A>T	ENST00000370904.1	-	16	2568	c.1658T>A	c.(1657-1659)aTg>aAg	p.M553K	IGSF1_ENST00000370903.3_Missense_Mutation_p.M562K|IGSF1_ENST00000361420.3_Missense_Mutation_p.M562K|IGSF1_ENST00000370910.1_Missense_Mutation_p.M553K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	562					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						TATGAAGAGCATGGTGACCCC	0.617000													8	66					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2834360	2834360	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:2834360G>T	ENST00000317243.5	+	5	1325	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCATACTGGAGAGAAGCCC	0.552000													15	73					0.000308642	0.00036176	1	1	0
LIFR	3977	broad.mit.edu	37	5	38506061	38506061	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:38506061G>A	ENST00000263409.4	-	9	1399	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	LIFR_ENST00000453190.2_Missense_Mutation_p.H413Y|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	413	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGCGGATTGTGAGCATTCAAA	0.294000			T	PLAG1	salivary adenoma								31	152					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751332	162751332	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:162751332C>T	ENST00000375514.5	+	11	1568	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SLC4A10_ENST00000446997.1_Silent_p.S446S|SLC4A10_ENST00000421911.1_Silent_p.S446S|SLC4A10_ENST00000415876.2_Silent_p.S416S|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Silent_p.S416S	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	446					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATGTTCCTTCCCAGGTATGTA	0.303000													11	125					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50616925	50616925	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:50616925C>T	ENST00000216373.5	-	14	2459	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	SOS2_ENST00000543680.1_Missense_Mutation_p.E696K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	729	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GCAATTGACTCTACCCATTTT	0.373000													22	176					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150220	92150220	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:92150220C>A	ENST00000256343.3	-	11	1088		c.e11+1			NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta						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)				CCAAAATTTACCTTCAAAGTG	0.313000													6	69					5.9392e-07	8.15852e-07	1	1	0
CYP11B1	1584	broad.mit.edu	37	8	143957789	143957789	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:143957789G>T	ENST00000292427.4	-	5	854	c.822C>A	c.(820-822)atC>atA	p.I274I	CYP11B1_ENST00000517471.1_Silent_p.I274I|CYP11B1_ENST00000377675.3_Silent_p.I345I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	274					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTTCCTGATAGATTTTCTGGA	0.577000									Familial Hyperaldosteronism type I				13	17					5.50884e-06	7.03001e-06	1	1	0
SLC34A1	6569	broad.mit.edu	37	5	176815091	176815091	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:176815091C>G	ENST00000324417.5	+	7	832	c.741C>G	c.(739-741)atC>atG	p.I247M	SLC34A1_ENST00000512593.1_Missense_Mutation_p.I247M	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	247					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGCACCACATCACTCGACTTG	0.602000													12	73					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25160969	25160969	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:25160969C>A	ENST00000320152.6	-	4	391	c.363G>T	c.(361-363)atG>atT	p.M121I	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.M121I	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	121					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CGATTATCTGCATCTCACCCA	0.463000													167	341					1.99579e-67	3.84308e-67	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183846073	183846073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:183846073C>A	ENST00000360982.2	-	14	2016	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	NCKAP1_ENST00000361354.3_Nonsense_Mutation_p.E414*	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	414					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTCTAAGTTCTTCCATGTAA	0.333000													11	57					1.58986e-06	2.1122e-06	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725308	140725308	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140725308G>A	ENST00000253812.6	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCCCACAGACGGTTCCAC	0.667000													30	225					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1305887	1305887	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:1305887G>T	ENST00000303400.4	+	2	253	c.190G>T	c.(190-192)Gtg>Ttg	p.V64L	MAEA_ENST00000452175.2_Missense_Mutation_p.V53L|MAEA_ENST00000505177.2_Missense_Mutation_p.V64L|MAEA_ENST00000514708.1_Missense_Mutation_p.V64L|MAEA_ENST00000264750.6_Missense_Mutation_p.V64L|MAEA_ENST00000510794.1_Missense_Mutation_p.V63L|MAEA_ENST00000505839.1_Missense_Mutation_p.V16L	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	64	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CTGCCCCGCCGTGGACTCCGT	0.647000													6	37					0.0215528	0.0227111	1	1	0
KRT38	8687	broad.mit.edu	37	17	39595080	39595080	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:39595080C>T	ENST00000246646.3	-	4	762	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	255	Linker 12.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGGAGCTTCTCCCCCAGCTGA	0.572000													54	157					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079752	42079752	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:42079752C>A	ENST00000395925.3	-	7	997	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	305					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCTGAAGGTCAAAGCTATGA	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				53	95					2.84144e-21	5.19325e-21	1	1	0
GIMAP6	474344	broad.mit.edu	37	7	150325381	150325381	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:150325381G>C	ENST00000328902.5	-	3	521	c.305C>G	c.(304-306)cCc>cGc	p.P102R	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	102							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGACCTGGGGGGACAGAAT	0.622000													12	156					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3131935	3131935	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:3131935A>T	ENST00000383846.1	-	10	1547	c.1000T>A	c.(1000-1002)Tca>Aca	p.S334T	IL5RA_ENST00000311981.8_Missense_Mutation_p.S334T|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000446632.2_Intron|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000256452.3_Intron|IL5RA_ENST00000438560.1_Intron	NM_175728.2	NP_783855.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	0					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ctttatcttgagaaccctagg	0.383000													12	76					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092445	202092445	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:202092445C>T	ENST00000367282.4	+	1	460	c.354C>T	c.(352-354)aaC>aaT	p.N118N		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	118						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						AGATCCAGAACCCCCTGTATC	0.617000													5	67					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361855	9361855	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9361855G>C	ENST00000456448.1	+	1	250	c.136G>C	c.(136-138)Gct>Cct	p.A46P		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GCCGGTCCTCGCTGGGCTGTT	0.572000													12	49					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90354471	90354471	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:90354471C>T	ENST00000371939.3	+	6	691	c.377C>T	c.(376-378)aCt>aTt	p.T126I		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	126					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		ATTGATTTCACTGTGAAGCAA	0.333000													34	81					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020548	167020548	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:167020548G>T	ENST00000061240.2	+	20	3423	c.2776G>T	c.(2776-2778)Ggc>Tgc	p.G926C	TLL1_ENST00000507499.1_Missense_Mutation_p.G949C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	926	CUB 5.				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)		ATCAGAACGGGGCTCTCGACT	0.443000													19	210					2.39187e-15	4.1158e-15	1	1	0
TGFBR2	7048	broad.mit.edu	37	3	30691886	30691886	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:30691886G>T	ENST00000295754.5	+	3	770	c.388G>T	c.(388-390)Ggt>Tgt	p.G130C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.G155C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	130					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AAAAAAGCCTGGTGAGACTTT	0.438000													26	124					1.42536e-11	2.29404e-11	1	1	0
ARMC12	221481	broad.mit.edu	37	6	35704944	35704944	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:35704944G>A	ENST00000373866.3	+	1	81	c.59G>A	c.(58-60)aGc>aAc	p.S20N	ARMC12_ENST00000373869.3_Missense_Mutation_p.S20N|ARMC12_ENST00000288065.2_Missense_Mutation_p.S20N			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	20							binding										AGCGTAGTCAGCCTGGCCACA	0.582000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	60					0	0	1	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040432	23040432	+	RNA	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:23040432C>G	ENST00000390306.2	+	0	159				D86994.1_ENST00000385095.1_RNA																							GGGACGTCTCCACCATGGCCT	0.647000													5	17					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53596699	53596699	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:53596699A>T	ENST00000342160.3	-	47	6858	c.6401T>A	c.(6400-6402)cTg>cAg	p.L2134Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.L2134Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2134					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCGAGGAACAGGCGGGCCAA	0.572000													6	80					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509872	24509872	+	Silent	SNP	G	G	T	rs144567766	byFrequency	TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:24509872G>T	ENST00000264463.4	-	7	1566	c.1059C>A	c.(1057-1059)acC>acA	p.T353T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATCTACATGGGTGTTTTCTG	0.368000										HNSCC(23;0.051)			14	63					0.000151284	0.000181935	1	1	0
GLA	2717	broad.mit.edu	37	X	100653788	100653788	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:100653788C>A	ENST00000218516.3	-	5	807	c.786G>T	c.(784-786)tgG>tgT	p.W262C	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	262					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	CTGGGTCATTCCAACCCCCTG	0.418000													14	195					4.14922e-12	6.72818e-12	1	1	0
OR14J1	442191	broad.mit.edu	37	6	29275253	29275253	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:29275253G>A	ENST00000377160.2	+	1	851	c.787G>A	c.(787-789)Gat>Aat	p.D263N		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACTGCCTTCTGATTCCTCATC	0.463000													37	200					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833254	82833254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:82833254G>T	ENST00000265077.3	+	8	4997	c.4432G>T	c.(4432-4434)Gaa>Taa	p.E1478*	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E491*|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1478	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E1478Q(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAGTCTCTTGAAGTTACATG	0.423000													13	93					7.03913e-09	1.03272e-08	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107029646	107029646	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:107029646G>T	ENST00000409886.3	-	22	5247	c.5160C>A	c.(5158-5160)ttC>ttA	p.F1720L	RGPD3_ENST00000304514.7_Missense_Mutation_p.F1720L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1720	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCAAGAAAATGAACTGCAGCA	0.428000													39	153					1.48646e-12	2.42864e-12	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	102980366	102980366	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:102980366C>G	ENST00000375735.2	+	1	207	c.63C>G	c.(61-63)ttC>ttG	p.F21L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F21L|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.F21L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	21	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAATTACTTCGGGTTGATGT	0.527000													5	27					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49882153	49882153	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr15:49882153T>G	ENST00000299338.6	-	4	460	c.157A>C	c.(157-159)Act>Cct	p.T53P	FAM227B_ENST00000558594.1_Missense_Mutation_p.T53P|FAM227B_ENST00000560246.1_Missense_Mutation_p.T53P|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.T53P	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TTTTTCAGAGTGCATGACCAT	0.313000													5	61					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985027	157985027	+	Missense_Mutation	SNP	G	G	T	rs138589982		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:157985027G>T	ENST00000389413.3	-	5	644	c.541C>A	c.(541-543)Ccc>Acc	p.P181T	PTPRN2_ENST00000404321.2_Missense_Mutation_p.P204T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P143T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P164T|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P181T	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	181						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACCTCAGCGGGGGGTCTGTCC	0.672000													4	34					0.00024832	0.000294795	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33221494	33221494	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:33221494T>A	ENST00000396033.2	-	3	237	c.102A>T	c.(100-102)tcA>tcT	p.S34S	ITGB1_ENST00000302278.3_Silent_p.S34S|ITGB1_ENST00000423113.1_Silent_p.S34S|ITGB1_ENST00000374956.4_Silent_p.S34S|ITGB1_ENST00000484088.1_5'UTR	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	34					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ATTCTCCACATGATTTGGCAT	0.353000													14	152					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478947	69478947	+	Silent	SNP	G	G	T	rs139621730		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:69478947G>T	ENST00000374519.2	-	1	707	c.528C>A	c.(526-528)acC>acA	p.T176T		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	176					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTTTGTTGCTGGTTGTGACAA	0.607000													4	53					0.150653	0.154719	1	1	0
PGAM4	441531	broad.mit.edu	37	X	77225092	77225092	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:77225092G>T	ENST00000458128.1	-	1	43	c.44C>A	c.(43-45)aCa>aAa	p.T15K	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	15					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CAGGTTCCATGTGCTCTCGCC	0.582000													12	156					3.07112e-06	3.98199e-06	1	1	0
DDX27	55661	broad.mit.edu	37	20	47851569	47851569	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:47851569G>T	ENST00000371764.4	+	12	1473	c.1464G>T	c.(1462-1464)ctG>ctT	p.L488L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	488	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCATGGGGCTGCAGGTGGGTG	0.602000													5	61					3.59834e-05	4.44298e-05	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79320503	79320503	+	Silent	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:79320503T>C	ENST00000428286.1	-	8	6810	c.5610A>G	c.(5608-5610)gaA>gaG	p.E1870E	PRUNE2_ENST00000376718.3_Silent_p.E2229E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2229					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGCCACATTTTCAATCCTTG	0.448000													6	87					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47759584	47759584	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:47759584G>C	ENST00000489301.2	+	3	382	c.297G>C	c.(295-297)tgG>tgC	p.W99C	OPN5_ENST00000393699.2_Missense_Mutation_p.W99C|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.W99C			Q6U736	OPN5_HUMAN	opsin 5	99					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCACCGCTGGGTGTTTGGCT	0.507000													10	59					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118392124	118392124	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:118392124G>A	ENST00000534358.1	+	35	11658	c.11635G>A	c.(11635-11637)Gac>Aac	p.D3879N	RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.D3876N|KMT2A_ENST00000354520.4_Missense_Mutation_p.D3838N|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AAAGTATTACGACAGCAAGGT	0.448000													7	65					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83585501	83585501	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:83585501C>A	ENST00000398309.2	-	11	1682	c.1212G>T	c.(1210-1212)caG>caT	p.Q404H	DLG2_ENST00000543673.1_Missense_Mutation_p.Q509H|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.Q158H|DLG2_ENST00000330014.6_Missense_Mutation_p.Q343H|DLG2_ENST00000532653.1_Missense_Mutation_p.Q404H|DLG2_ENST00000376104.2_Missense_Mutation_p.Q509H|DLG2_ENST00000524982.1_Missense_Mutation_p.Q404H|DLG2_ENST00000531015.1_Missense_Mutation_p.Q371H|DLG2_ENST00000280241.8_Missense_Mutation_p.Q443H|DLG2_ENST00000418306.2_Missense_Mutation_p.Q301H|DLG2_ENST00000398301.2_Missense_Mutation_p.Q443H	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	404						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATTGAAGGCTGACGAGTTG	0.368000													10	50					1.58986e-06	2.1122e-06	1	1	0
LRRC2	79442	broad.mit.edu	37	3	46574296	46574296	+	Silent	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:46574296A>G	ENST00000395905.3	-	5	986	c.594T>C	c.(592-594)tcT>tcC	p.S198S	LRRC2_ENST00000296144.3_Silent_p.S198S	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	198										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTAGATTTCCAGAACAATCCA	0.358000													17	118					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87022266	87022266	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:87022266G>T	ENST00000331536.3	+	17	1786	c.1601G>T	c.(1600-1602)gGa>gTa	p.G534V	CROT_ENST00000419147.2_Missense_Mutation_p.G562V|CROT_ENST00000442291.1_Missense_Mutation_p.G534V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	534	Poly-Gly.				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCACACAGCGGAGGAGGTGGA	0.383000													21	261					3.5997e-14	6.11288e-14	1	1	0
FER	2241	broad.mit.edu	37	5	108380450	108380450	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:108380450G>C	ENST00000281092.4	+	15	2167	c.1783G>C	c.(1783-1785)Gaa>Caa	p.E595Q	FER_ENST00000438717.2_Missense_Mutation_p.E420Q	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	595	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AACATGTAAAGAAGATCTTCC	0.264000													30	129					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134878404	134878404	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:134878404C>A	ENST00000354475.4	-	10	1447	c.1416G>T	c.(1414-1416)gtG>gtT	p.V472V	WDR91_ENST00000344400.5_Silent_p.V472V|WDR91_ENST00000423565.1_Silent_p.V437V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	472										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCACTGTTCCCACACCACTGC	0.552000													6	31					0.00198382	0.00224002	1	1	0
SYT8	90019	broad.mit.edu	37	11	1858271	1858271	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:1858271C>A	ENST00000341958.3	+	7	1177	c.875C>A	c.(874-876)cCc>cAc	p.P292H	SYT8_ENST00000381968.3_Missense_Mutation_p.P306H|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	306	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACGGCGGCCCCCTACTTCAAT	0.612000													6	81					8.12818e-05	9.82979e-05	1	1	0
MN1	4330	broad.mit.edu	37	22	28194930	28194930	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:28194930C>T	ENST00000302326.4	-	1	2556	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	534	Poly-Gln.						binding	p.Q550_R551insQ(1)		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						gctgctgctgctgttgctgct	0.647000			T	ETV6	"""AML, meningioma"""								5	6					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46315891	46315891	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:46315891C>A	ENST00000465950.1	-	5	4596	c.3387G>T	c.(3385-3387)cgG>cgT	p.R1129R	SCAF11_ENST00000369367.3_Silent_p.R1444R|SCAF11_ENST00000419565.2_Silent_p.R1444R|SCAF11_ENST00000550629.1_Intron|SCAF11_ENST00000549162.1_Silent_p.R1252R			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1444					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGCTCCCCTTCCGTGAATATT	0.388000													42	169					1.57019e-19	2.82199e-19	1	1	0
POLQ	10721	broad.mit.edu	37	3	121206914	121206914	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:121206914C>A	ENST00000264233.5	-	16	4992	c.4864G>T	c.(4864-4866)Ggg>Tgg	p.G1622W		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1622					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCCTGGTCCCAGTTAATTTT	0.398000								DNA polymerases (catalytic subunits)					79	310					1.68737e-39	3.22043e-39	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85973974	85973974	+	Missense_Mutation	SNP	G	G	A	rs142917517		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:85973974G>A	ENST00000372117.3	+	17	2280	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	726					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTTCTGGCGCAACAAGAAG	0.642000													31	80					0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203054712	203054712	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:203054712G>T	ENST00000241651.4	-	1	452	c.378C>A	c.(376-378)atC>atA	p.I126I		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	126	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CGATGTACTGGATGGCACTGC	0.662000													17	91					1.01871e-10	1.58821e-10	1	1	0
LILRB3	11025	broad.mit.edu	37	19	54722657	54722657	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:54722657G>T	ENST00000391750.1	-	10	1613	c.1477C>A	c.(1477-1479)Ccc>Acc	p.P493T	LILRB3_ENST00000346401.6_Missense_Mutation_p.P505T|LILRB3_ENST00000407860.2_Missense_Mutation_p.P510T|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.P493T|LILRB3_ENST00000424807.1_Missense_Mutation_p.P493T|LILRB3_ENST00000245620.9_Missense_Mutation_p.P493T|LILRA6_ENST00000270464.5_Missense_Mutation_p.P493T|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.P493T			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	493					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTCCTTGGGCTCTGTCTCC	0.582000													11	55					0.00829132	0.00913881	1	1	0
MOG	4340	broad.mit.edu	37	6	29627167	29627167	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:29627167C>A	ENST00000376894.4	+	2	278	c.160C>A	c.(160-162)Cgc>Agc	p.R54S	MOG_ENST00000376902.3_Missense_Mutation_p.R54S|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Missense_Mutation_p.R54S|MOG_ENST00000376888.2_Intron|MOG_ENST00000431798.2_Missense_Mutation_p.R54S|MOG_ENST00000396701.2_Missense_Mutation_p.R54S|MOG_ENST00000376891.4_Missense_Mutation_p.R54S|MOG_ENST00000494692.1_Missense_Mutation_p.R54S|MOG_ENST00000490427.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.R54S|MOG_ENST00000533330.2_Missense_Mutation_p.R54S|MOG_ENST00000376898.3_Missense_Mutation_p.R54S|MOG_ENST00000376917.3_Missense_Mutation_p.R54S|MOG_ENST00000483013.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	54	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ATTGCCATGTCGCATATCTCC	0.537000													33	222					8.16721e-17	1.42816e-16	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82764096	82764096	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:82764096G>T	ENST00000373200.2	+	1	828	c.764G>T	c.(763-765)tGg>tTg	p.W255L	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	255	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CTGAACAAGTGGCTGGAGGAG	0.567000													5	50					0.00116845	0.00133331	1	1	0
CCDC105	126402	broad.mit.edu	37	19	15133836	15133836	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:15133836C>G	ENST00000292574.3	+	7	1487	c.1405C>G	c.(1405-1407)Caa>Gaa	p.Q469E		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	469					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GCGCCAGCGGCAACCGCACGT	0.692000													3	23					0	0	1	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143912	1143912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:1143912G>T	ENST00000328449.5	-	4	621	c.348C>A	c.(346-348)taC>taA	p.Y116*		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	116	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				AGAAGGCGGCGTAGGCACGTC	0.761000													4	12					0.00909568	0.00984098	1	1	0
APOB	338	broad.mit.edu	37	2	21234878	21234878	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:21234878G>T	ENST00000233242.1	-	26	4989	c.4862C>A	c.(4861-4863)tCc>tAc	p.S1621Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1621					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGACCATGGGAATTTAGTGA	0.428000													18	88					6.49762e-13	1.06699e-12	1	1	0
OR2L3	391192	broad.mit.edu	37	1	248224409	248224409	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:248224409G>A	ENST00000359959.3	+	1	426	c.426G>A	c.(424-426)ctG>ctA	p.L142L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			TGTGTGTGCTGATGATAACAG	0.428000													39	235					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59760748	59760748	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:59760748T>A	ENST00000259008.2	-	20	3926	c.3659A>T	c.(3658-3660)gAa>gTa	p.E1220V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1220					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CAGTTCCAGTTCATTTATCCA	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					22	65					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160622	104160622	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:104160622C>A	ENST00000414303.2	+	2	279	c.215C>A	c.(214-216)cCt>cAt	p.P72H		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	72					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	CCTTTCAGACCTTGGTGGGAA	0.353000													33	503					6.84511e-11	1.07235e-10	1	1	0
KIF19	124602	broad.mit.edu	37	17	72350601	72350601	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:72350601G>C	ENST00000389916.4	+	18	2747	c.2609G>C	c.(2608-2610)cGt>cCt	p.R870P		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	870					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCTGGCTGCGTGGCCAGAAG	0.652000													5	17					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33609050	33609050	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:33609050G>A	ENST00000252015.2	-	9	1250	c.1161C>T	c.(1159-1161)taC>taT	p.Y387Y	TRPC4AP_ENST00000432634.2_Silent_p.Y348Y|TRPC4AP_ENST00000451813.1_Silent_p.Y379Y|TRPC4AP_ENST00000539834.1_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	387	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTCCAGTTTGTACATGATCT	0.582000													5	35					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451000	105451000	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:105451000G>A	ENST00000337685.2	+	5	2360	c.1575G>A	c.(1573-1575)ccG>ccA	p.P525P	MUM1L1_ENST00000372552.1_Silent_p.P525P|MUM1L1_ENST00000357175.2_Silent_p.P525P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	525								p.P525P(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGGGAACCGATGGCTGTAA	0.448000													4	36					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585632	20585632	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:20585632C>G	ENST00000315543.4	+	1	67	c.67C>G	c.(67-69)Cca>Gca	p.P23A		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TACAGGTCATCCAAGAGCGAG	0.403000													21	160					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386713	124386713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:124386713C>A	ENST00000303921.2	-	2	2358	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	570						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATGCATTCCTCACAGCAA	0.498000													12	109					0.000978159	0.00112811	1	1	0
PROM1	8842	broad.mit.edu	37	4	15987396	15987396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:15987396C>T	ENST00000505450.1	-	21	2852	c.2240G>A	c.(2239-2241)tGg>tAg	p.W747*	PROM1_ENST00000539194.1_Nonsense_Mutation_p.W756*|PROM1_ENST00000543373.1_Nonsense_Mutation_p.W747*|PROM1_ENST00000447510.2_Nonsense_Mutation_p.W756*|PROM1_ENST00000508167.1_Nonsense_Mutation_p.W747*|PROM1_ENST00000540805.1_Nonsense_Mutation_p.W756*|PROM1_ENST00000510224.1_Nonsense_Mutation_p.W756*	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	756					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GAACTCGATCCACTGCAGATA	0.333000													3	14					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103449232	103449232	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:103449232A>T	ENST00000376004.4	-	2	646	c.310T>A	c.(310-312)Tat>Aat	p.Y104N	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	104						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAGCTTGCATACATTCTGTAT	0.378000													6	77					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850819	207850819	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:207850819G>A	ENST00000508064.2	+	2	243	c.183G>A	c.(181-183)ctG>ctA	p.L61L	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	61	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGACATATCTGAACTATGAAT	0.463000													8	191					0	0	1	0	0
ASPA	443	broad.mit.edu	37	17	3379592	3379592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:3379592G>T	ENST00000263080.2	+	1	297	c.139G>T	c.(139-141)Gag>Tag	p.E47*	ASPA_ENST00000456349.2_Nonsense_Mutation_p.E47*|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	47					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AACAGGGCTGGAGGTAAAACC	0.438000													17	176					3.41278e-10	5.17112e-10	1	1	0
VNN1	8876	broad.mit.edu	37	6	133035163	133035163	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:133035163C>G	ENST00000367928.4	-	1	25	c.12G>C	c.(10-12)caG>caC	p.Q4H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	4					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AAGCTGGCAACTGAGTAGTCA	0.448000													4	27					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22069445	22069445	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:22069445C>A	ENST00000382374.4	-	11	1120	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		TTTCACAGCTCTCTTAAACTC	0.303000													10	56					0.00621372	0.00686054	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44799012	44799012	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:44799012A>T	ENST00000309315.4	+	7	1069	c.946A>T	c.(946-948)Atg>Ttg	p.M316L	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.M316L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.M284L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.M284L|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.M316L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	316	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAGCAGGGCATGACCCAGTC	0.697000													14	107					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105913	168105913	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:168105913T>A	ENST00000409195.1	+	9	8100	c.8011T>A	c.(8011-8013)Tca>Aca	p.S2671T	XIRP2_ENST00000295237.9_Missense_Mutation_p.S2671T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2449T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2496					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAATCCAAATCAGCTTGCGA	0.408000													10	111					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715066	65715066	+	RNA	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:65715066A>T	ENST00000532620.1	+	0	1001							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GAGGAGGCTGAGGAGGGAGAG	0.622000													5	49					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55169163	55169163	+	Missense_Mutation	SNP	C	C	T	rs149215072		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:55169163C>T	ENST00000251091.5	+	2	885	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	SAMD4A_ENST00000554335.1_Missense_Mutation_p.R194W|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R193W|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R194W	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	194					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GCAGAACTCTCGGGATTCTGG	0.527000													7	82					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762217	130762217	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:130762217G>T	ENST00000392429.1	+	2	3028	c.650G>T	c.(649-651)cGg>cTg	p.R217L	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R217L|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R217L	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	217						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)		TCGGGTTTTCGGAGCAGTTTT	0.478000													8	42					0.0381472	0.0398728	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34148749	34148749	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:34148749C>A	ENST00000346193.3	-	1	1698	c.1647G>T	c.(1645-1647)aaG>aaT	p.K549N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	549										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCGACGACTCTTGGGAAGCT	0.607000													14	90					3.27435e-08	4.75001e-08	1	1	0
MUC17	140453	broad.mit.edu	37	7	100680008	100680008	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:100680008G>T	ENST00000306151.4	+	3	5375	c.5311G>T	c.(5311-5313)Gca>Tca	p.A1771S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1771	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCCTTTCAGCAACTCCTAT	0.507000													176	549					8.48856e-70	1.63943e-69	1	1	0
FST	10468	broad.mit.edu	37	5	52780011	52780011	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:52780011G>A	ENST00000396947.3	+	4	775	c.609G>A	c.(607-609)gaG>gaA	p.E203E	FST_ENST00000256759.3_Silent_p.E203E	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	203	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTTCCTCTGAGCAATATCTCT	0.517000													33	75					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017384	101017384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:101017384G>A	ENST00000537247.1	+	10	1443	c.489G>A	c.(487-489)tgG>tgA	p.W163*	GAS2L3_ENST00000539410.1_Nonsense_Mutation_p.W267*|GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.W267*|GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.W267*			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	267	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGGAGGCTGGGATACTCTTC	0.373000													41	159					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105243211	105243211	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:105243211G>A	ENST00000306107.5	+	3	753	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ALCAM_ENST00000486979.2_Missense_Mutation_p.E34K|ALCAM_ENST00000472644.2_Missense_Mutation_p.E85K|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	85	Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CGATGTACCAGAATACAAAGA	0.373000													15	111					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66213891	66213891	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:66213891G>T	ENST00000273854.3	-	15	3139	c.2539C>A	c.(2539-2541)Cca>Aca	p.P847T	EPHA5_ENST00000511294.1_Missense_Mutation_p.P848T|EPHA5_ENST00000354839.4_Missense_Mutation_p.P825T|EPHA5_ENST00000432638.2_Missense_Mutation_p.P684T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	847	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTGCTTCTGGGGCAGTCCAT	0.408000										TSP Lung(17;0.13)			19	115					1.01871e-10	1.58821e-10	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978600	247978600	+	Silent	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:247978600A>T	ENST00000357627.1	-	1	431	c.432T>A	c.(430-432)acT>acA	p.T144T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCCAAGACACAGTGGCTCTTT	0.512000													18	125					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912914	55912914	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:55912914C>A	ENST00000373965.2	-	15	2145	c.1751G>T	c.(1750-1752)cGg>cTg	p.R584L	PCDH15_ENST00000395430.1_Missense_Mutation_p.R577L|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577L|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577L|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540L|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577L|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555L|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577L|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188L|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577L|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582L|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584L|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	577	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCGTAAGTCCGCCCGACTAT	0.478000										HNSCC(58;0.16)			28	77					1.17739e-12	1.92854e-12	1	1	0
FBN3	84467	broad.mit.edu	37	19	8152967	8152967	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:8152967G>T	ENST00000600128.1	-	52	6887	c.6473C>A	c.(6472-6474)cCt>cAt	p.P2158H	FBN3_ENST00000601739.1_Missense_Mutation_p.P2158H|FBN3_ENST00000270509.2_Missense_Mutation_p.P2158H			Q75N90	FBN3_HUMAN	fibrillin 3	2158	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATGAGGCCAGGCTCAAAGCC	0.627000													16	69					1.15088e-07	1.61873e-07	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101817400	101817400	+	Silent	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:101817400A>G	ENST00000375001.3	+	33	3471	c.3048A>G	c.(3046-3048)ctA>ctG	p.L1016L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1016	Nonhelical region 7 (NC7).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CACTTGATCTAGCTTACCTGA	0.353000													66	236					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909076	94909076	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:94909076G>T	ENST00000334708.3	-	5	1200	c.1136C>A	c.(1135-1137)tCc>tAc	p.S379Y	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	379					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGGGGGCTGGGAGAGGAGGCC	0.572000													5	35					2.0095e-06	2.63721e-06	1	1	0
ABLIM3	22885	broad.mit.edu	37	5	148627393	148627393	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:148627393C>T	ENST00000506113.1	+	17	2082	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	ABLIM3_ENST00000508983.1_Missense_Mutation_p.R501W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R423W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R534W|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R423W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R439W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R20W|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	534					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)			AATGAAGGCCCGGTCGAGCTC	0.562000													7	51					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406172	55406172	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:55406172C>T	ENST00000314612.2	+	1	339	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCTTCATTCTCACAGGGATGG	0.408000													15	133					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32462979	32462979	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:32462979G>T	ENST00000266088.4	+	3	515	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	SLC5A1_ENST00000543737.1_5'UTR	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	89					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.G89R(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGGGCTGGCCGGGACTGGGGC	0.557000													8	58					1.12685e-05	1.42397e-05	1	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283846	151283846	+	RNA	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:151283846G>A	ENST00000509345.2	-	0	490																											TGGTGACCCAGCAGCAGGCAC	0.627000													7	112					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350697	100350697	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:100350697C>A	ENST00000542585.1	+	0	3117				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATTCCC	0.567000													36	122					1.60099e-16	2.78451e-16	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039625	31039625	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:31039625C>A	ENST00000355537.3	+	4	3246	c.3099C>A	c.(3097-3099)aaC>aaA	p.N1033K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAAGATAACACCATCGGGG	0.557000													13	75					2.32078e-09	3.44392e-09	1	1	0
TTC27	55622	broad.mit.edu	37	2	32889483	32889483	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:32889483G>T	ENST00000317907.4	+	6	985	c.754G>T	c.(754-756)Gat>Tat	p.D252Y		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	252							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAAAGCAAAAGATCAGTTGGA	0.294000													5	94					0.248553	0.252851	1	1	0
POLI	11201	broad.mit.edu	37	18	51797789	51797789	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:51797789G>T	ENST00000579534.1	+	2	318	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	POLI_ENST00000217800.5_5'UTR|POLI_ENST00000406285.3_Missense_Mutation_p.D59Y|POLI_ENST00000579434.1_Intron	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	59	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGTACATGTGGATCTGGATTG	0.348000								DNA polymerases (catalytic subunits)					4	34					0.014758	0.0158086	1	1	0
DSPP	1834	broad.mit.edu	37	4	88534395	88534395	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:88534395A>T	ENST00000399271.1	+	4	1177	c.1057A>T	c.(1057-1059)Aaa>Taa	p.K353*	DSPP_ENST00000282478.7_Nonsense_Mutation_p.K353*|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	353					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TAGAGAAAGCAAACGCGTAGA	0.428000													4	66					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175530234	175530234	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:175530234G>T	ENST00000253490.4	+	13	726	c.669G>T	c.(667-669)ctG>ctT	p.L223L	FAM153B_ENST00000510151.1_Silent_p.L146L|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Silent_p.L146L			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	223										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TCCTAGTTCTGATCAGGGATG	0.512000													10	254					1.61879e-10	2.49371e-10	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33214840	33214840	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:33214840C>T	ENST00000396033.2	-	6	880	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	ITGB1_ENST00000302278.3_Missense_Mutation_p.E249K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E249K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E249K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	249	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AAACCACCTTCTGGAGAATCC	0.373000													15	222					0	0	1	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671384	51671384	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:51671384C>A	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CCCGGAGTTCCTAAAGTCTGG	0.632000													9	63					0.335167	0.340429	1	1	0
SLC9A2	6549	broad.mit.edu	37	2	103299781	103299781	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:103299781T>G	ENST00000233969.2	+	4	1208	c.1066T>G	c.(1066-1068)Tac>Gac	p.Y356D		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	356						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAGAAATCCTACACGACCAT	0.418000													13	97					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837654	29837654	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:29837654C>A	ENST00000354373.2	+	2	706	c.497C>A	c.(496-498)tCc>tAc	p.S166Y	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	166	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTTGACGTGTCCATTTGCATC	0.562000													34	127					8.4185e-14	1.42213e-13	1	1	0
DIP2C	22982	broad.mit.edu	37	10	403772	403772	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:403772C>A	ENST00000280886.6	-	23	2987	c.2900G>T	c.(2899-2901)cGc>cTc	p.R967L	DIP2C_ENST00000540204.1_Missense_Mutation_p.R288L|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	967						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCTACCTTGCGTGCCTGGTC	0.632000													17	63					2.23348e-06	2.91932e-06	1	1	0
DAOA	267012	broad.mit.edu	37	13	106124955	106124955	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:106124955G>T	ENST00000375936.3	+	3	248	c.202G>T	c.(202-204)Ggc>Tgc	p.G68C	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	68						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GCATGAGGACGGCTATTTGGA	0.413000													16	59					4.7546e-09	7.00735e-09	1	1	0
FGFR4	2264	broad.mit.edu	37	5	176517995	176517995	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:176517995G>T	ENST00000292408.4	+	5	738	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	FGFR4_ENST00000292410.3_Missense_Mutation_p.G165W|FGFR4_ENST00000393637.1_Missense_Mutation_p.G165W|FGFR4_ENST00000393648.2_Missense_Mutation_p.G165W|FGFR4_ENST00000502906.1_Missense_Mutation_p.G165W	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	165	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AGTACCTGCGGGGAACACCGT	0.612000										TSP Lung(9;0.080)			9	47					0.000274275	0.000323235	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167262275	167262275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:167262275G>A	ENST00000409855.1	-	25	4990	c.4864C>T	c.(4864-4866)Cga>Tga	p.R1622*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1622					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTTGTTTTCGTTTCAAAGTA	0.363000													13	196					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243504397	243504397	+	Silent	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:243504397A>T	ENST00000366541.3	+	11	1396	c.1278A>T	c.(1276-1278)acA>acT	p.T426T	SDCCAG8_ENST00000343783.6_Silent_p.T281T|SDCCAG8_ENST00000355875.4_Silent_p.T383T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	426	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AAAAGGTTACAAAGGAAAAGA	0.388000													10	82					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652298	108652298	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:108652298G>A	ENST00000218006.2	-	9	2182	c.1891C>T	c.(1891-1893)Cta>Tta	p.L631L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	631	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATGTCTTCTAGGCTCCCTCGG	0.403000													10	177					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896566	896566	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:896566T>G	ENST00000381922.3	-	1	394	c.292A>C	c.(292-294)Acg>Ccg	p.T98P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T98P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	98					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCCACTGCGTGTTGTTCTGC	0.597000													8	156					0	0	1	0	0
DRD4	1815	broad.mit.edu	37	11	639514	639514	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:639514A>G	ENST00000176183.5	+	2	379	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	DRD4_ENST00000528733.1_3'UTR	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	123					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CACCGCCTCCATCTTCAACCT	0.761000													3	27					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137990228	137990228	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:137990228G>T	ENST00000252854.4	+	4	686	c.499G>T	c.(499-501)Gtc>Ttc	p.V167F	OLFM1_ENST00000371793.3_Missense_Mutation_p.V185F|OLFM1_ENST00000371796.3_Missense_Mutation_p.V158F	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	185					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TAAAGAGGAGGTCCAGAATCT	0.458000													8	122					1.06961e-07	1.51763e-07	1	1	0
ZNF764	92595	broad.mit.edu	37	16	30567267	30567267	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:30567267G>A	ENST00000395091.2	-	3	787	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R159C			Q96H86	ZN764_HUMAN	zinc finger protein 764	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGGGAGGGGCGTCCCCGGTGC	0.701000													4	31					0	0	1	0	0
CLDND2	125875	broad.mit.edu	37	19	51871757	51871757	+	Silent	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:51871757G>C	ENST00000291715.1	-	1	500	c.75C>G	c.(73-75)tcC>tcG	p.S25S	CLDND2_ENST00000601435.1_Silent_p.S25S	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	25						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGTGGCCGTGGAGAGCACCA	0.652000													10	58					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201369539	201369539	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:201369539T>C	ENST00000359878.3	-	3	814	c.304A>G	c.(304-306)Agc>Ggc	p.S102G	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.S102G	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	102						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						TCAGACAGGCTGTATGGATAA	0.388000													12	69					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72984519	72984519	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:72984519C>G	ENST00000268489.5	-	3	3737	c.3065G>C	c.(3064-3066)gGc>gCc	p.G1022A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G108A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1022					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)				GTTGGCCTTGCCGCCCTCCTT	0.592000													4	47					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13825921	13825921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:13825921G>T	ENST00000324750.3	+	1	379	c.157G>T	c.(157-159)Gag>Tag	p.E53*		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	53					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CAGCCTCTTGGAGAACATCTT	0.507000													7	46					0.00198382	0.00224002	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56466283	56466283	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:56466283G>A	ENST00000291971.3	+	3	930	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	NLRP8_ENST00000590542.1_Missense_Mutation_p.G287S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	287	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)		GCTCTTGGATGGCTTTGAGGA	0.517000													41	186					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072824	17072824	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:17072824C>T	ENST00000359963.3	-	1	876	c.617G>A	c.(616-618)tGc>tAc	p.C206Y		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	206					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)				GGGCAGCGCGCACACCCCAAC	0.617000													12	93					0	0	1	0	0
FEM1C	56929	broad.mit.edu	37	5	114879154	114879154	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:114879154C>G	ENST00000274457.3	-	2	598	c.37G>C	c.(37-39)Gat>Cat	p.D13H		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	13						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		AGTTTGCCATCCCGAGCTGCG	0.438000													12	58					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9869440	9869440	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9869440C>A	ENST00000397902.2	-	6	726	c.312_splice	c.e6-1	p.E105_splice	ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_5'UTR|ZNF846_ENST00000586293.1_Splice_Site_p.G77_splice	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTGCTTCTCTCCTGTTGAGAT	0.333000													7	75					2.0095e-06	2.63721e-06	1	1	0
LMBR1L	55716	broad.mit.edu	37	12	49495911	49495911	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:49495911C>A	ENST00000267102.8	-	11	1264	c.922G>T	c.(922-924)Gtg>Ttg	p.V308L	LMBR1L_ENST00000547382.1_Missense_Mutation_p.V308L|LMBR1L_ENST00000395141.4_Missense_Mutation_p.V303L	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	308					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCGTCAGCACCAGCAAGCAC	0.597000													7	78					8.12818e-05	9.82979e-05	1	1	0
PRKACB	5567	broad.mit.edu	37	1	84700924	84700924	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:84700924A>C	ENST00000370689.2	+	10	1256	c.992A>C	c.(991-993)tAt>tCt	p.Y331S	PRKACB_ENST00000370682.3_Missense_Mutation_p.Y335S|PRKACB_ENST00000394839.2_Missense_Mutation_p.Y301S|PRKACB_ENST00000394838.2_Missense_Mutation_p.Y338S|PRKACB_ENST00000370685.3_Missense_Mutation_p.Y378S	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	331	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTTGATGACTATGAAGAAGAA	0.363000													12	71					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325138	9325138	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:9325138T>A	ENST00000308682.2	-	1	404	c.376A>T	c.(376-378)Atc>Ttc	p.I126F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GGGTGGCAGATGGCCACAAAC	0.512000													10	117					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233925280	233925280	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:233925280G>T	ENST00000359570.5	+	1	92	c.92G>T	c.(91-93)cGt>cTt	p.R31L	INPP5D_ENST00000538935.1_Missense_Mutation_p.R31L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	31	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTCCTCGTGCGTGCCAGCGAG	0.642000													12	36					0.0135373	0.0146221	1	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15880878	15880878	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:15880878C>A	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							AAGGTCCGATCTTCTTCCAGA	0.498000													3	10					0.115264	0.119131	1	1	0
SH2D5	400745	broad.mit.edu	37	1	21053505	21053505	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:21053505C>A	ENST00000444387.2	-	4	629	c.232G>T	c.(232-234)Ggg>Tgg	p.G78W	SH2D5_ENST00000460804.1_Intron|SH2D5_ENST00000375031.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	0										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCACCCTCCCCGCTGTAGATC	0.622000													5	23					0.217242	0.221348	1	1	0
SERPINA11	256394	broad.mit.edu	37	14	94909074	94909074	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:94909074G>T	ENST00000334708.3	-	5	1202	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	380					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GATGGGGGCTGGGAGAGGAGG	0.577000													5	35					2.0095e-06	2.63721e-06	1	1	0
OS9	10956	broad.mit.edu	37	12	58109591	58109591	+	Missense_Mutation	SNP	G	G	T	rs112813761		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:58109591G>T	ENST00000315970.7	+	6	669	c.628G>T	c.(628-630)Gtg>Ttg	p.V210L	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.V210L|OS9_ENST00000551035.1_Missense_Mutation_p.V177L|OS9_ENST00000389146.6_Missense_Mutation_p.V210L|OS9_ENST00000435406.2_Missense_Mutation_p.V158L|OS9_ENST00000257966.8_Missense_Mutation_p.V210L|OS9_ENST00000439210.2_Missense_Mutation_p.V151L|OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Missense_Mutation_p.V210L	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	210					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CATCGATCGCGTGGACGAGCC	0.567000													10	73					2.74318e-10	4.19583e-10	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70070257	70070257	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:70070257C>A	ENST00000446444.1	-	5	1209	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	401					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						GCAATGTTATCAGGTTGATCA	0.438000													55	256					4.88482e-21	8.87776e-21	1	1	0
RYR2	6262	broad.mit.edu	37	1	237969473	237969473	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:237969473G>T	ENST00000366574.2	+	99	14505	c.14188G>T	c.(14188-14190)Gtt>Ttt	p.V4730F	RYR2_ENST00000542537.1_Missense_Mutation_p.V4714F|RYR2_ENST00000360064.6_Missense_Mutation_p.V4736F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4730					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACTATGTCTGTTCTTGGACA	0.408000													11	67					1.58986e-06	2.1122e-06	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27703027	27703027	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:27703027C>T	ENST00000438700.3	-	1	270	c.153G>A	c.(151-153)ccG>ccA	p.P51P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	51					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGGGGATTTCGGGGGTGCCA	0.682000													18	238					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106139	55106139	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:55106139C>A	ENST00000453777.1	+	4	250	c.80C>A	c.(79-81)cCc>cAc	p.P27H	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P27H|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	27	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCCTCCCCAAGCCCACA	0.587000													6	104					3.59834e-05	4.44298e-05	1	1	0
SLC4A10	57282	broad.mit.edu	37	2	162761322	162761322	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:162761322G>T	ENST00000375514.5	+	14	1884	c.1597G>T	c.(1597-1599)Ggg>Tgg	p.G533W	SLC4A10_ENST00000446997.1_Missense_Mutation_p.G552W|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G552W|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G522W|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G522W	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	552					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCCATGACCGGGATAGCCTA	0.403000													21	129					1.90627e-21	3.49392e-21	1	1	0
NRXN2	9379	broad.mit.edu	37	11	64436068	64436068	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:64436068G>T	ENST00000265459.6	-	8	1667	c.1206C>A	c.(1204-1206)atC>atA	p.I402I	NRXN2_ENST00000377559.3_Silent_p.I371I|NRXN2_ENST00000377551.1_Silent_p.I402I|NRXN2_ENST00000409571.1_Silent_p.I395I	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	402	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGTCCACCGAGATGGTCACCT	0.577000													24	94					7.53681e-25	1.40528e-24	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49070710	49070710	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:49070710G>A	ENST00000376265.2	-	30	3711	c.3650C>T	c.(3649-3651)cCc>cTc	p.P1217L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1206L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1152L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1217					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATAGTTGAAGGGAGCAGTCTG	0.537000													6	90					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634455	122634455	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:122634455G>T	ENST00000195173.4	-	14	2123	c.1820C>A	c.(1819-1821)aCa>aAa	p.T607K	SEMA5B_ENST00000357599.3_Missense_Mutation_p.T607K|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T661K			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	607					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCATCCCGTGTCACATTCCG	0.552000													12	31					0.0931896	0.0966244	1	1	0
ARMCX5	64860	broad.mit.edu	37	X	101857939	101857939	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:101857939G>T	ENST00000604957.1	+	1	3492	c.870G>T	c.(868-870)aaG>aaT	p.K290N	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.K290N|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K290N|ARMCX5_ENST00000537008.1_Missense_Mutation_p.K290N|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.K290N|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K290N	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	290							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAAGGGAAAAGTATGGGCCTA	0.448000													11	150					6.40141e-05	7.81455e-05	1	1	0
TLR4	7099	broad.mit.edu	37	9	120475921	120475921	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:120475921G>A	ENST00000355622.6	+	3	1616	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	TLR4_ENST00000394487.4_Silent_p.Q465Q|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	505					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.Q505H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACCTCTCTCAGTGTCAACTGG	0.433000													31	86					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104109602	104109602	+	Missense_Mutation	SNP	C	C	A	rs141419387		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:104109602C>A	ENST00000388887.2	+	43	4751	c.4547C>A	c.(4546-4548)cCg>cAg	p.P1516Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1516	EGF-like 13.				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.P1516L(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						GAAATCAACCCGTGTTTGGAG	0.502000													27	99					3.1745e-13	5.26641e-13	1	1	0
C17orf74	201243	broad.mit.edu	37	17	7330028	7330028	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:7330028C>A	ENST00000333870.3	+	3	792	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	240						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GTCACCTGAGCTGCGCTGCAT	0.637000													5	45					0.000602214	0.000697017	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31382471	31382471	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:31382471G>T	ENST00000268296.4	+	15	1898	c.1777G>T	c.(1777-1779)Gac>Tac	p.D593Y	ITGAX_ENST00000562522.1_Missense_Mutation_p.D593Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	593					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGGGGGTCAAGACCTCACCCA	0.642000													9	100					0.0809354	0.0840533	1	1	0
BCOR	54880	broad.mit.edu	37	X	39932705	39932705	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:39932705C>A	ENST00000342274.4	-	4	2256	c.1894G>T	c.(1894-1896)Ggc>Tgc	p.G632C	BCOR_ENST00000397354.3_Missense_Mutation_p.G632C|BCOR_ENST00000378444.4_Missense_Mutation_p.G632C|BCOR_ENST00000378455.4_Missense_Mutation_p.G632C	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	632					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTGGAAGGCCGTTCTCGTTT	0.587000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						14	93					7.93312e-07	1.07379e-06	1	1	0
FAM153A	285596	broad.mit.edu	37	5	177161930	177161930	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:177161930C>A	ENST00000440605.3	-	12	721	c.438G>T	c.(436-438)ctG>ctT	p.L146L	FAM153A_ENST00000510276.1_Silent_p.L146L|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	146										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			CATCCCTGATCAGAACTAGGA	0.507000													7	36					0.000442599	0.000515039	1	1	0
ARC	23237	broad.mit.edu	37	8	143694573	143694573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:143694573C>A	ENST00000356613.2	-	1	2260	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	354					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCCTGCACCTCCATGCCCCTC	0.692000													15	27					0.11911	0.122909	1	1	0
ZNF727	442319	broad.mit.edu	37	7	63538477	63538477	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:63538477C>A	ENST00000550760.3	+	4	1229	c.1050C>A	c.(1048-1050)acC>acA	p.T350T		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AAGCCTTTACCTACTCCTCAA	0.403000													7	29					0.00198382	0.00224002	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204588137	204588137	+	Silent	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:204588137G>C	ENST00000367175.1	-	1	3196	c.984C>G	c.(982-984)ccC>ccG	p.P328P	LRRN2_ENST00000367177.3_Silent_p.P328P|LRRN2_ENST00000367176.3_Silent_p.P328P			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	328					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGAAGGCGCGGGGGTGGATGA	0.607000													17	39					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133950541	133950541	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:133950541A>T	ENST00000298622.4	+	6	1273	c.1135A>T	c.(1135-1137)Ata>Tta	p.I379L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCTGGAATCATACGGAGACC	0.512000													18	27					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79962989	79962989	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:79962989A>G	ENST00000373275.4	-	22	2705	c.2489T>C	c.(2488-2490)gTt>gCt	p.V830A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	830										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTTGTGCCAACAGTTTCATC	0.343000													6	55					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887265	98887265	+	Silent	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:98887265A>T	ENST00000477737.1	+	22	3168	c.2964A>T	c.(2962-2964)ctA>ctT	p.L988L	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	988										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGAAATCCTAGCTGGGAAAA	0.483000													34	171					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466501	10466501	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:10466501C>A	ENST00000382483.3	-	4	5330	c.5107G>T	c.(5107-5109)Ggg>Tgg	p.G1703W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1703					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)		GCTGCCTCCCCATCAGTGTGT	0.632000													10	121					6.40141e-05	7.81455e-05	1	1	0
RBBP5	5929	broad.mit.edu	37	1	205070793	205070793	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:205070793G>A	ENST00000264515.6	-	6	708	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RBBP5_ENST00000367164.1_Silent_p.F189F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	189					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGTCACTCTGAAGGAAGCAA	0.393000													25	291					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868922	22868922	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:22868922T>A	ENST00000302097.3	-	2	1285	c.1033A>T	c.(1033-1035)Act>Tct	p.T345S		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGGAAGGGAGTGGGAAACTGC	0.483000													8	142					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53044586	53044586	+	Silent	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:53044586T>A	ENST00000276480.7	-	22	3281	c.2598A>T	c.(2596-2598)ctA>ctT	p.L866L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	866						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GACAATGTGGTAGCTCTTGTT	0.493000													10	120					0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154931808	154931808	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:154931808C>G	ENST00000368457.2	-	3	839	c.668G>C	c.(667-669)gGc>gCc	p.G223A	PYGO2_ENST00000368456.1_Missense_Mutation_p.G186A	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	223	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGAGAAGGGCCAAAAGGAGC	0.622000													15	43					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32956763	32956763	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:32956763C>T	ENST00000399302.2	+	4	3907	c.3572C>T	c.(3571-3573)cCa>cTa	p.P1191L	QSER1_ENST00000527788.1_Missense_Mutation_p.P952L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1191										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGTCCCCCACCACTTCCCAAG	0.473000													11	159					0	0	1	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988849	31988849	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr21:31988849G>A	ENST00000334664.2	+	1	100	c.76G>A	c.(76-78)Ggc>Agc	p.G26S		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	26						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TGGTTATCGTGGCTATGGATG	0.453000													6	115					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53561122	53561122	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:53561122G>T	ENST00000342160.3	-	82	13325	c.12868C>A	c.(12868-12870)Caa>Aaa	p.Q4290K	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q4290K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4290	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGGTCAGCTTGATCGAAAGAA	0.532000													4	64					1.23904e-05	1.55662e-05	1	1	0
CCL25	6370	broad.mit.edu	37	19	8121319	8121319	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:8121319G>T	ENST00000253451.4	+	4	367	c.261G>T	c.(259-261)atG>atT	p.M87I	CCL25_ENST00000390669.3_Missense_Mutation_p.M87I|CCL25_ENST00000315626.4_Intron	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	87					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						AGAGAGCCATGAAGCTCCTGG	0.567000													3	31					0.004672	0.00519379	1	1	0
ZNF599	148103	broad.mit.edu	37	19	35250513	35250513	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:35250513C>A	ENST00000329285.7	-	4	1566	c.1193G>T	c.(1192-1194)gGt>gTt	p.G398V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCACATTCACCGCACTCATA	0.458000													5	95					0.000602214	0.000697017	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113569124	113569124	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:113569124C>A	ENST00000297405.5	-	25	4346	c.4102G>T	c.(4102-4104)Gac>Tac	p.D1368Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D1264Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1328Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1368Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1368	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGCCTTGGTCACTGATCTTG	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			31	40					2.81731e-10	4.28895e-10	1	1	0
FLG	2312	broad.mit.edu	37	1	152275523	152275523	+	Missense_Mutation	SNP	G	G	A	rs141145933	byFrequency	TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:152275523G>A	ENST00000368799.1	-	3	11874	c.11839C>T	c.(11839-11841)Cgt>Tgt	p.R3947C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3947	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)			GGACTGCCACGTGACTGTATT	0.438000									Ichthyosis				20	166					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109181594	109181594	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:109181594T>A	ENST00000261483.4	+	18	3781	c.2729T>A	c.(2728-2730)tTg>tAg	p.L910*		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	910					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTGAGCAAATTGCCTCTTCAA	0.388000													28	193					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792759	143792759	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:143792759G>T	ENST00000408949.2	+	1	619	c.559G>T	c.(559-561)Gcc>Tcc	p.A187S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ATTCAAATTGGCCTGTGCTGA	0.493000													48	146					5.85753e-14	9.921e-14	1	1	0
MMP19	4327	broad.mit.edu	37	12	56230864	56230864	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:56230864A>T	ENST00000394182.1	-	4	624	c.625T>A	c.(625-627)Ttg>Atg	p.L209M	MMP19_ENST00000548629.1_Missense_Mutation_p.L472M|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.L495M			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	495					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTGGTATCCAAGGTTATGCCC	0.522000													32	261					0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475749	238475749	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:238475749G>T	ENST00000165524.1	+	2	195	c.195G>T	c.(193-195)aaG>aaT	p.K65N		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	65						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		ACGTCCCCAAGCCTGGCCTGC	0.652000													11	51					9.70103e-10	1.45628e-09	1	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148977366	148977366	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:148977366A>T	ENST00000333677.6	+	2	197	c.34A>T	c.(34-36)Agg>Tgg	p.R12W		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	12					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCCATCCTCCAGGTCAGGGAG	0.572000													12	65					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133801	91133801	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:91133801G>T	ENST00000373094.1	+	2	3407	c.2562G>T	c.(2560-2562)tgG>tgT	p.W854C	PCDH11X_ENST00000395337.2_Missense_Mutation_p.W854C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W854C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W854C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.W854C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W854C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.W854C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W854C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W854C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	854					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTCTGAATGGGCTACCCCAA	0.408000													29	114					1.88708e-17	3.33591e-17	1	1	0
TTN	7273	broad.mit.edu	37	2	179554582	179554582	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:179554582G>A	ENST00000589042.1	-	122	32028	c.31804C>T	c.(31804-31806)Ccc>Tcc	p.P10602S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10285S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9358S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10285	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)			ACAGGAACGGGAATCTTTTCT	0.383000													37	251					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24559364	24559364	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr6:24559364C>A	ENST00000535378.1	-	18	3226	c.2584G>T	c.(2584-2586)Gta>Tta	p.V862L	KIAA0319_ENST00000378214.3_Missense_Mutation_p.V871L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V826L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V871L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.V871L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	871					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGCTCTGTACATAAAACACA	0.517000													4	36					0.014758	0.0158086	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49070711	49070711	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:49070711G>T	ENST00000376265.2	-	30	3710	c.3649C>A	c.(3649-3651)Ccc>Acc	p.P1217T	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1206T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1152T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1217					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TAGTTGAAGGGAGCAGTCTGC	0.532000													6	89					3.59834e-05	4.44298e-05	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62845292	62845292	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:62845292G>T	ENST00000512091.1	+	17	3360	c.2613G>T	c.(2611-2613)gcG>gcT	p.A871A	LPHN3_ENST00000514591.1_Silent_p.A871A|LPHN3_ENST00000504896.1_Silent_p.A871A|LPHN3_ENST00000545650.1_Silent_p.A871A|LPHN3_ENST00000511324.1_Silent_p.A939A|LPHN3_ENST00000506746.1_Silent_p.A939A|LPHN3_ENST00000508946.1_Silent_p.A871A|LPHN3_ENST00000506720.1_Silent_p.A939A|LPHN3_ENST00000514996.1_Silent_p.A871A|LPHN3_ENST00000514157.1_Silent_p.A871A|LPHN3_ENST00000507164.1_Silent_p.A939A|LPHN3_ENST00000508693.1_Silent_p.A939A|LPHN3_ENST00000507625.1_Silent_p.A939A|LPHN3_ENST00000509896.1_Silent_p.A939A|LPHN3_ENST00000506700.1_Silent_p.A871A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.A871A(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGTGATGCGGTCCATGACC	0.443000													25	209					7.07758e-08	1.0131e-07	1	1	0
CUBN	8029	broad.mit.edu	37	10	17130209	17130209	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:17130209G>A	ENST00000377833.4	-	15	1966	c.1901C>T	c.(1900-1902)aCc>aTc	p.T634I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	634	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGCTCAAGGTCCCAAAAGT	0.413000													30	76					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3909598	3909598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:3909598C>A	ENST00000450849.2	+	7	1229	c.762C>A	c.(760-762)taC>taA	p.Y254*	ATCAY_ENST00000600960.1_Nonsense_Mutation_p.Y254*|ATCAY_ENST00000398448.3_Nonsense_Mutation_p.Y260*|ATCAY_ENST00000301260.6_Nonsense_Mutation_p.Y254*	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	254	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGAAGTGCTACCAGATGATCG	0.597000													7	15					0.0293803	0.030759	1	1	0
CYP11B1	1584	broad.mit.edu	37	8	143956706	143956706	+	Silent	SNP	G	G	A	rs138706121		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:143956706G>A	ENST00000292427.4	-	7	1176	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	CYP11B1_ENST00000517471.1_Silent_p.L382L|CYP11B1_ENST00000377675.3_Silent_p.L453L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	382					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L382L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ACTCGCTCCAGAAACAGACCC	0.607000									Familial Hyperaldosteronism type I				4	40					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21806646	21806646	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:21806646G>C	ENST00000449193.2	-	4	2358	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V	SKIDA1_ENST00000444772.3_Missense_Mutation_p.L36V	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		TTTTTCAGCAGATCTGTGAAG	0.512000													22	34					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440716	99440716	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:99440716G>A	ENST00000287042.4	+	2	859	c.509G>A	c.(508-510)cGc>cAc	p.R170H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R170H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	170						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGCAACTTCCGCAGGCAGCTG	0.602000													31	47					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64434816	64434816	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:64434816G>A	ENST00000265459.6	-	9	2165	c.1704C>T	c.(1702-1704)gaC>gaT	p.D568D	NRXN2_ENST00000377559.3_Silent_p.D537D|NRXN2_ENST00000377551.1_Silent_p.D568D|NRXN2_ENST00000409571.1_Silent_p.D561D	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	568	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CAGATCCCATGTCCAGCAGAA	0.627000													11	127					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149984521	149984521	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:149984521G>T	ENST00000370377.3	-	3	278	c.161C>A	c.(160-162)aCc>aAc	p.T54N	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Missense_Mutation_p.T54N|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	54	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCTATTGGTTGTGGTGGT	0.552000													9	200					1.76689e-08	2.57473e-08	1	1	0
ELF1	1997	broad.mit.edu	37	13	41515130	41515130	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr13:41515130C>G	ENST00000239882.3	-	8	1497	c.1183G>C	c.(1183-1185)Gtc>Ctc	p.V395L	ELF1_ENST00000442101.1_Missense_Mutation_p.V371L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	395					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCCTCTGGGACAGCCTGTACT	0.473000													9	123					0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119604484	119604484	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:119604484G>T	ENST00000295206.6	-	1	770	c.260C>A	c.(259-261)gCg>gAg	p.A87E		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	87					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						AGCAGGCGCCGCGAGATGCTG	0.731000													4	27					0.00909568	0.00984098	1	1	0
ZXDC	79364	broad.mit.edu	37	3	126180502	126180502	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:126180502C>A	ENST00000389709.3	-	6	2056	c.2003G>T	c.(2002-2004)cGc>cTc	p.R668L	ZXDC_ENST00000336332.5_Missense_Mutation_p.R668L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	668	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGCTCCTGGGCGAGAAGGCGA	0.627000													15	67					2.32078e-09	3.44392e-09	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	22					2.27111e-07	3.16683e-07	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96952114	96952114	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:96952114C>G	ENST00000323853.5	-	29	4015	c.3938G>C	c.(3937-3939)aGa>aCa	p.R1313T	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1313						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCACTGTTTCTCAGAGCAGA	0.527000													14	168					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865208	140865208	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140865208G>C	ENST00000306593.1	+	1	468	c.468G>C	c.(466-468)aaG>aaC	p.K156N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGAAAAGGCTCAGGATG	0.557000													21	97					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32856642	32856642	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:32856642A>T	ENST00000362006.5	+	16	1785	c.1242A>T	c.(1240-1242)caA>caT	p.Q414H	CCDC7_ENST00000277657.6_Missense_Mutation_p.Q414H|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	414										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCCTAAATCAAGAGAAGTTAC	0.313000													24	87					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73069431	73069431	+	RNA	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:73069431C>A	ENST00000429829.1	-	0	3157					NR_001564.2																						ATTGACATTCCCTAACTTCAA	0.393000													13	54					0.000308642	0.00036176	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168098472	168098472	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:168098472G>T	ENST00000519560.1	-	34	4277	c.3858C>A	c.(3856-3858)acC>acA	p.T1286T	SLIT3_ENST00000404867.3_Silent_p.T1286T|SLIT3_ENST00000332966.8_Silent_p.T1293T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1286	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAGAGGCCGGTGGAGGTGG	0.632000													5	18					1.23904e-05	1.55662e-05	1	1	0
CTR9	9646	broad.mit.edu	37	11	10785223	10785223	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:10785223C>G	ENST00000361367.2	+	9	1417	c.991C>G	c.(991-993)Caa>Gaa	p.Q331E		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	331					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTACTATTATCAAGCCACACA	0.333000													16	78					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151630885	151630885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:151630885G>T	ENST00000368843.3	+	3	838	c.718G>T	c.(718-720)Gaa>Taa	p.E240*	SNX27_ENST00000368838.1_Nonsense_Mutation_p.E147*|SNX27_ENST00000458013.2_Nonsense_Mutation_p.E240*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	240	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCGGGGATTGGAAGAATATCT	0.403000													17	107					1.15088e-07	1.61873e-07	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64600143	64600143	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:64600143G>A	ENST00000342711.5	-	26	2937	c.2938C>T	c.(2938-2940)Ctg>Ttg	p.L980L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	980	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						GCGTCAAACAGCAGCAGGCGT	0.687000													8	51					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174856	140174856	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:140174856A>G	ENST00000526136.1	+	1	307	c.307A>G	c.(307-309)Agc>Ggc	p.S103G	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S103G|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S103G|PCDHA1_ENST00000504120.2_Intron	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)			CGCGGAATGTAGCATCCACGT	0.537000													38	238					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121405865	121405865	+	Splice_Site	SNP	T	T	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:121405865T>A	ENST00000231004.4	-	6	1431		c.e6-2		LOX_ENST00000513319.1_Splice_Site|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase						protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TACACTGACCTGGGCAACACA	0.433000													11	64					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22973860	22973860	+	Missense_Mutation	SNP	C	C	A	rs139780188		TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:22973860C>A	ENST00000374639.3	+	3	440	c.322C>A	c.(322-324)Cca>Aca	p.P108T	C1QC_ENST00000374640.4_Missense_Mutation_p.P108T|C1QC_ENST00000374637.1_Missense_Mutation_p.P108T	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	108	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	CCCTGGAGAGCCAGGTGAGGA	0.622000													9	58					0.000274275	0.000323235	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15725885	15725885	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:15725885C>T	ENST00000262041.5	-	1	552	c.143G>A	c.(142-144)tGc>tAc	p.C48Y		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	48					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGCGATTATGCAAGATGAGGA	0.572000													9	18					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887915	25887915	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:25887915G>T	ENST00000376351.3	+	11	3719	c.3360G>T	c.(3358-3360)ctG>ctT	p.L1120L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1120						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						GCGAAGAACTGCCCCCCAAAG	0.483000													8	171					5.18039e-06	6.66345e-06	1	1	0
ACOT9	23597	broad.mit.edu	37	X	23740787	23740787	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chrX:23740787C>A	ENST00000379303.5	-	7	612	c.484_splice	c.e7+1	p.D162_splice	ACOT9_ENST00000336430.7_Splice_Site_p.D153_splice|ACOT9_ENST00000379295.1_Splice_Site_p.D93_splice|ACOT9_ENST00000492081.1_Splice_Site_p.D93_splice	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	153					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TATCACTTACCAATCTTATCC	0.353000													7	123					8.12818e-05	9.82979e-05	1	1	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37109453	37109453	+	RNA	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr15:37109453C>T	ENST00000430593.3	-	0	769					NR_027320.1																						TTAACTTTGTCCAATCAAATG	0.483000													15	58					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139796	3139796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr16:3139796C>A	ENST00000252463.2	-	5	1561	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	ZSCAN10_ENST00000538082.2_Nonsense_Mutation_p.E410*|ZSCAN10_ENST00000575108.1_Nonsense_Mutation_p.E153*	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	492					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGGCCGCTCGCCCGTGTGC	0.721000													5	13					0.014758	0.0158086	1	1	0
CCL16	6360	broad.mit.edu	37	17	34304603	34304603	+	Nonstop_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:34304603C>A	ENST00000293275.3	-	3	437	c.362G>T	c.(361-363)tGa>tTa	p.*121L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	0					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTGGTCATCACTGGGAGTT	0.463000													8	73					2.17888e-05	2.72676e-05	1	1	0
ZNF624	57547	broad.mit.edu	37	17	16527816	16527816	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:16527816C>T	ENST00000311331.7	-	6	475	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGTTTGGGCTCCATGTCTG	0.398000													5	56					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223397	25223397	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr15:25223397C>G	ENST00000444203.2	+	7	1668	c.629C>G	c.(628-630)cCc>cGc	p.P210R	SNRPN_ENST00000554227.2_Missense_Mutation_p.P210R|SNRPN_ENST00000390687.4_Missense_Mutation_p.P206R|SNRPN_ENST00000346403.6_Missense_Mutation_p.P206R|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.P206R|SNRPN_ENST00000400097.1_Missense_Mutation_p.P206R|SNRPN_ENST00000400098.1_Missense_Mutation_p.P206R|SNRPN_ENST00000400100.1_Missense_Mutation_p.P206R			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	206	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ATTGGGCTTCCCCCTGCTCGA	0.547000									Prader-Willi syndrome				26	139					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486751	180486751	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:180486751C>T	ENST00000327705.9	+	11	1728	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	BTNL9_ENST00000376842.3_Silent_p.P500P	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	499	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCGGATCCCCTGACCATCT	0.677000													5	29					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582379	247582379	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:247582379G>T	ENST00000366497.2	+	2	1063	c.283_splice	c.e2+1	p.G95_splice	NLRP3_ENST00000336119.3_Splice_Site_p.G95_splice|NLRP3_ENST00000391828.3_Splice_Site_p.G95_splice|NLRP3_ENST00000348069.2_Splice_Site_p.G95_splice|NLRP3_ENST00000366496.2_Splice_Site_p.G95_splice|NLRP3_ENST00000391827.2_Splice_Site_p.G95_splice|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	95					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCCGAAGTGGGGTGAGTGGAA	0.403000													6	27					6.5536e-12	1.06004e-11	1	1	0
GZMH	2999	broad.mit.edu	37	14	25076363	25076363	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr14:25076363C>A	ENST00000216338.4	-	4	633	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	197	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		ACCTTGAAACCGGTCTGTGTC	0.517000													18	235					2.35188e-11	3.74795e-11	1	1	0
RYR2	6262	broad.mit.edu	37	1	237880546	237880546	+	Silent	SNP	C	C	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:237880546C>A	ENST00000366574.2	+	72	10689	c.10372C>A	c.(10372-10374)Cgg>Agg	p.R3458R	RYR2_ENST00000542537.1_Silent_p.R3442R|RYR2_ENST00000360064.6_Silent_p.R3456R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAAGGAGATCGGTATTCCAT	0.493000													4	35					1	1	1	1	0
FAM105A	54491	broad.mit.edu	37	5	14601320	14601320	+	Splice_Site	SNP	A	A	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:14601320A>T	ENST00000274217.3	+	3	344		c.e3-1			NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A											large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTTATCTTTCAGGTGGATTGG	0.313000													6	102					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182350692	182350692	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:182350692G>T	ENST00000397033.2	+	10	1556	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	376					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGTTAATCTTGGCGACATTGA	0.338000													22	115					1.50039e-11	2.40882e-11	1	1	0
FGF10	2255	broad.mit.edu	37	5	44310553	44310553	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:44310553G>A	ENST00000264664.4	-	2	519	c.405C>T	c.(403-405)aaC>aaT	p.N135N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	135					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCCCCTTCTTGTTCATGGCTA	0.378000													18	42					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363842	21363842	+	RNA	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr22:21363842G>T	ENST00000452284.1	+	0	1509				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						GAGTTGATACGGATTCAGACC	0.498000													4	4					1	1	1	1	0
CDH7	1005	broad.mit.edu	37	18	63547762	63547762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:63547762G>T	ENST00000397968.2	+	12	2416	c.1990G>T	c.(1990-1992)Gaa>Taa	p.E664*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.E664*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	664					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGGACACGGAAGCGTTTGA	0.498000													15	89					1.3612e-06	1.82718e-06	1	1	0
SLAMF8	56833	broad.mit.edu	37	1	159799683	159799683	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:159799683C>T	ENST00000289707.5	+	2	217	c.68C>T	c.(67-69)gCc>gTc	p.A23V	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	23						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GTTACTGGTGCCCAAGTGCTG	0.592000													27	155					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766929	77766929	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:77766929G>T	ENST00000521891.2	+	10	8220	c.7772G>T	c.(7771-7773)aGt>aTt	p.S2591I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2565I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2546I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2546I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2546						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATAATTGCAGTGAAAAAGAA	0.473000										HNSCC(33;0.089)			6	52					0.0215528	0.0227111	1	1	0
MSL3P1	151507	broad.mit.edu	37	2	234775346	234775346	+	RNA	SNP	G	G	A	rs13384181	by1000genomes	TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:234775346G>A	ENST00000438684.1	-	0	768					NR_024322.1																						GGGGTGGCTGGTTCACCGCTG	0.567000													4	40					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478473	21478473	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr3:21478473G>T	ENST00000281523.2	-	5	1180	c.662C>A	c.(661-663)gCg>gAg	p.A221E		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	221						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						ACTGTTGTGCGCCTCCAGCTG	0.468000													18	111					2.4624e-09	3.6457e-09	1	1	0
LILRB4	11006	broad.mit.edu	37	19	55179430	55179430	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:55179430C>G	ENST00000391736.1	+	14	1622	c.1307C>G	c.(1306-1308)cCa>cGa	p.P436R	LILRB4_ENST00000391733.3_Missense_Mutation_p.P437R|LILRB4_ENST00000270452.2_Missense_Mutation_p.P436R|LILRB4_ENST00000391734.3_Missense_Mutation_p.P383R|LILRB4_ENST00000430952.2_Missense_Mutation_p.P435R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	436						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGGGCCTCTCCAGCTGAGCCC	0.607000													7	117					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063139	41063139	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr17:41063139C>T	ENST00000253801.2	+	5	849	c.770C>T	c.(769-771)cCc>cTc	p.P257L	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	257			P -> L (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GACACCACACCCTTTGCCAGC	0.582000													10	80					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100240935	100240935	+	Silent	SNP	C	C	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:100240935C>T	ENST00000160382.5	-	14	1321	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	405					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGATCCACATCTGCTGGAAAG	0.612000													7	91					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122254113	122254113	+	Silent	SNP	G	G	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:122254113G>A	ENST00000394427.2	-	4	1071	c.660C>T	c.(658-660)gtC>gtT	p.V220V	QRFPR_ENST00000334383.5_Silent_p.V220V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	220				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GGAAGAGGATGACAAGGATGA	0.423000													11	104					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495849	228495849	+	Silent	SNP	G	G	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:228495849G>T	ENST00000570156.2	+	58	15449	c.15375G>T	c.(15373-15375)gcG>gcT	p.A5125A	OBSCN_ENST00000284548.11_Silent_p.A4168A|OBSCN_ENST00000366707.4_Silent_p.A1802A|OBSCN_ENST00000422127.1_Silent_p.A4168A|OBSCN_ENST00000366709.4_Silent_p.A1287A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4168					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)				TGGTTGATGCGGAGGTGACGG	0.602000													16	73					3.32936e-07	4.61262e-07	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86916375	86916376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:86916375_86916376insA	ENST00000370565.4	+	12	2276_2277	c.2114_2115insA	c.(2113-2115)cggfs	p.R705fs	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	705					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CACTCTATTCCAGGGAGTCATG	0.421													15	167	---	---	---	---					
GPR137B	7107	broad.mit.edu	37	1	236306161	236306163	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr1:236306161_236306163delTCT	ENST00000366592.3	+	1	330_332	c.239_241delTCT	c.(238-243)gtc>g	p.VF80del	GPR137B_ENST00000366591.4_In_Frame_Del_p.VF80del	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	80						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TACCAGAGCGTCTTCCTCTTTCT	0.581													11	142	---	---	---	---					
VWA3B	200403	broad.mit.edu	37	2	98744728	98744728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr2:98744728delG	ENST00000477737.1	+	6	933	c.729delG	c.(727-729)gtfs	p.V243fs	VWA3B_ENST00000435344.1_Frame_Shift_Del_p.V243fs|VWA3B_ENST00000451075.2_Frame_Shift_Del_p.V93fs	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	243										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTTTGTGGTGGGGGATGTTC	0.502													26	162	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187518842	187518842	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr4:187518842delC	ENST00000441802.2	-	24	12571	c.12362delG	c.(12361-12363)gafs	p.G4121fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4121	EGF-like 4.				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						TTACCTTTCTCCCCTAAAACC	0.418										HNSCC(5;0.00058)			14	55	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112418705	112418705	+	Splice_Site	DEL	C	C	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr5:112418705delC	ENST00000302475.4	-	9	1629	c.1065_splice	c.e9-1	p.V356_splice	MCC_ENST00000515367.2_Splice_Site_p.V293_splice|MCC_ENST00000408903.3_Splice_Site_p.V546_splice|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	356					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTGCTGGATACCTGCAAAAAG	0.438													16	65	---	---	---	---					
DPP6	1804	broad.mit.edu	37	7	154379564	154379564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr7:154379564delG	ENST00000406326.1	+	6	1235	c.832delG	c.(832-834)ggfs	p.G279fs	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					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)			CCATGTACAAGGGGGACCTGT	0.542													22	74	---	---	---	---					
OSGIN2	734	broad.mit.edu	37	8	90936818	90936819	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr8:90936818_90936819insAG	ENST00000451899.2	+	6	968_969	c.708_709insAG	c.(706-711)ttgagafs	p.R237fs	OSGIN2_ENST00000297438.2_Frame_Shift_Ins_p.R193fs	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	193					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGAAGAATTTCAGAGAGAATAC	0.351													8	175	---	---	---	---					
VAV2	7410	broad.mit.edu	37	9	136804229	136804229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr9:136804229delC	ENST00000371851.1	-	2	642	c.317delG	c.(316-318)gafs	p.G106fs	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Frame_Shift_Del_p.G106fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.G106fs			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	106	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCTCACCTTTCCAAAGTCTCG	0.542													9	105	---	---	---	---					
SEC61A2	55176	broad.mit.edu	37	10	12197923	12197924	+	In_Frame_Ins	INS	-	-	GGCAGA			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:12197923_12197924insGGCAGA	ENST00000379033.3	+	6	690_691	c.543_544insGGCAGA	c.(541-546)acgcag>acGGCAGAgcag	p.181_182TQ>TAEQ	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_In_Frame_Ins_p.203_204TQ>TAEQ|SEC61A2_ENST00000304267.8_In_Frame_Ins_p.203_204TQ>TAEQ|SEC61A2_ENST00000379020.4_In_Frame_Ins_p.203_204TQ>TAEQ	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	203						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCATTAACACTGGCAGAGGTAC	0.525													13	227	---	---	---	---					
PLCE1	51196	broad.mit.edu	37	10	96028740	96028740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr10:96028740delG	ENST00000260766.3	+	17	4970	c.4336delG	c.(4336-4338)ggfs	p.G1446fs	PLCE1_ENST00000371385.3_Frame_Shift_Del_p.G1138fs|PLCE1_ENST00000371380.2_Frame_Shift_Del_p.G1446fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.G1138fs	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1446	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGGAGACGATGGGATGCCCAT	0.453													22	77	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602650	5602651	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:5602650_5602651insT	ENST00000345043.2	+	1	544_545	c.544_545insT	c.(544-546)tgafs	p.*182fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTTTCTCCTTGAGCACCTG	0.470													18	295	---	---	---	---					
MS4A8	83661	broad.mit.edu	37	11	60476137	60476137	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr11:60476137delG	ENST00000300226.2	+	5	620	c.417delG	c.(415-417)ttfs	p.L139fs		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		CTGGCAGTTTGGGCTTGAACA	0.473													12	122	---	---	---	---					
POLR3B	55703	broad.mit.edu	37	12	106824186	106824186	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr12:106824186delG	ENST00000228347.4	+	14	1621	c.1399delG	c.(1399-1401)gtfs	p.G467fs	POLR3B_ENST00000539066.1_Frame_Shift_Del_p.G409fs	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	467					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAAAGTGAGTGGTCCTCGCTC	0.498													47	153	---	---	---	---					
EPG5	57724	broad.mit.edu	37	18	43523167	43523167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr18:43523167delG	ENST00000282041.5	-	9	1937	c.1903delC	c.(1903-1905)gcfs	p.R635fs		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	635					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCCTATAGCGTGCTCTATTA	0.428													10	109	---	---	---	---					
ZNF527	84503	broad.mit.edu	37	19	37879790	37879791	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr19:37879790_37879791insT	ENST00000436120.2	+	5	946_947	c.839_840insT	c.(838-840)ggafs	p.G280fs	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGAATGTGGTGATGCCTTTA	0.386													44	243	---	---	---	---					
PIGT	51604	broad.mit.edu	37	20	44045213	44045214	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-A4VN-01A-11D-A25L-08	TCGA-95-A4VN-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B8FEB54D-00EB-477F-A51D-DB8C9A7975F7	B729A820-AC2F-4108-8265-F4852C3B7518	g.chr20:44045213_44045214insT	ENST00000279036.6	+	2	324_325	c.244_245insT	c.(244-246)acgfs	p.T82fs	PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000372689.5_Frame_Shift_Ins_p.T82fs|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.T82fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	82					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CAAGTATTCTCTACGGGAGCTG	0.599													10	42	---	---	---	---