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
SYNE2	23224	broad.mit.edu	37	14	64427480	64427480	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:64427480A>G	ENST00000341472.5	+	9	1017	c.814A>G	c.(814-816)Aga>Gga	p.R272G	SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4489	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCACTTTACAGAATTTATAT	0.423000													14	25					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16913467	16913467	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:16913467C>T	ENST00000310398.2	-	3	180	c.110G>A	c.(109-111)gGa>gAa	p.G37E	AGR3_ENST00000402239.3_Splice_Site_p.G37E	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	37						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ATCTCCCCATCCTGAAATAGA	0.353000													26	47					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65571896	65571896	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:65571896C>T	ENST00000356388.4	-	2	350	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.R51Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	54	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						AAAGCCGCTTCGTCCATTGCC	0.512000													14	22					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30676371	30676371	+	Splice_Site	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:30676371G>T	ENST00000534862.1	+	11	1319	c.956G>T	c.(955-957)gGa>gTa	p.G319V	HCK_ENST00000520553.1_Splice_Site_p.G318V|HCK_ENST00000518730.1_Splice_Site_p.G317V|HCK_ENST00000375862.2_Splice_Site_p.G338V|HCK_ENST00000375852.2_Splice_Site_p.G339V|HCK_ENST00000538448.1_Splice_Site_p.G318V	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	339	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G339E(1)|p.G318E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCATATAGGAAGCTTGCTG	0.443000													29	99					6.38683e-12	6.74166e-12	1	1	0
OXER1	165140	broad.mit.edu	37	2	42990228	42990228	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:42990228G>A	ENST00000378661.2	-	1	1173	c.1092C>T	c.(1090-1092)caC>caT	p.H364H		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	364					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CCCGGCTCTGGTGGAGGAAGT	0.657000													31	39					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46319096	46319096	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:46319096C>T	ENST00000339464.4	-	4	1064	c.690G>A	c.(688-690)gaG>gaA	p.E230E	WNT7B_ENST00000409496.3_Silent_p.E234E|WNT7B_ENST00000410089.1_Silent_p.E214E	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	230					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CGTTGTACTTCTCCTTCAGCA	0.642000													31	43					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805533	1805533	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1805533C>T	ENST00000440486.2	+	8	1301	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	FGFR3_ENST00000481110.2_Missense_Mutation_p.H349Y|FGFR3_ENST00000260795.2_Missense_Mutation_p.H349Y|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	349	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGGGTTTTCTCATCACTCTGC	0.612000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				96	30					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119013596	119013596	+	Silent	SNP	T	T	C	rs11568720		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:119013596T>C	ENST00000298472.5	+	5	704	c.561T>C	c.(559-561)atT>atC	p.I187I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	187					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCCTGCTGATTGCCAGGTCGC	0.607000													70	138					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233836	21233836	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:21233836G>A	ENST00000233242.1	-	26	6031	c.5904C>T	c.(5902-5904)gtC>gtT	p.V1968V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1968					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)	GCAGGGCACTGACTTTGTGTT	0.453000													56	105					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100797869	100797869	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:100797869T>C	ENST00000323346.5	+	9	1420	c.1107T>C	c.(1105-1107)atT>atC	p.I369I	SLC17A8_ENST00000392989.3_Silent_p.I319I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	369					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGTACCTATTGGAGGACAAT	0.403000													31	67					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76866987	76866987	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:76866987G>A	ENST00000262768.7	-	3	631	c.333C>T	c.(331-333)ctC>ctT	p.L111L	TIMP2_ENST00000586057.1_Silent_p.L34L|TIMP2_ENST00000536189.2_Silent_p.L34L|TIMP2_ENST00000585421.1_Silent_p.L34L	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	111	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CACCTGCAATGAGATATTCCT	0.582000													90	103					0	0	1	0	0
COMTD1	118881	broad.mit.edu	37	10	76993951	76993951	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:76993951C>T	ENST00000372538.3	-	7	751	c.669G>A	c.(667-669)ccG>ccA	p.P223P	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	223						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					CGTCCCCTTTCGGAGGTTGCA	0.697000													26	54					0	0	1	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356096	22356096	+	RNA	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:22356096A>G	ENST00000390437.2	+	0	60																											GCATTTTTTAAGGGTTTAAAA	0.343000													10	27					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86670043	86670043	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:86670043C>T	ENST00000456692.2	+	14	1424	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	RASA1_ENST00000506290.1_Missense_Mutation_p.P448S|RASA1_ENST00000274376.6_Missense_Mutation_p.P614S|RASA1_ENST00000512763.1_Missense_Mutation_p.P447S	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	614	SH2 2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTTACTAATCCATATTGTAA	0.338000													27	30					0	0	1	0	0
VTI1B	10490	broad.mit.edu	37	14	68123177	68123177	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:68123177C>T	ENST00000554659.1	-	4	837	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	166					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TCCCCCAGCTCTTCTATGATT	0.522000													86	168					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91603051	91603051	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:91603051T>C	ENST00000359028.2	+	3	336	c.111T>C	c.(109-111)gcT>gcC	p.A37A	AKAP9_ENST00000394564.1_Silent_p.A25A|AKAP9_ENST00000356239.3_Silent_p.A25A|AKAP9_ENST00000358100.2_Silent_p.A37A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	37					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGAAAAGCTCAGTCGGATG	0.368000			T	BRAF	papillary thyroid								17	34					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561367	9561367	+	Missense_Mutation	SNP	C	C	A	rs144997856		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:9561367C>A	ENST00000378429.3	-	5	961	c.415G>T	c.(415-417)Gct>Tct	p.A139S	PAK7_ENST00000353224.5_Missense_Mutation_p.A139S|PAK7_ENST00000378423.1_Missense_Mutation_p.A139S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	139	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGTAGTCAGCAGTAGTATCG	0.537000													10	183					4.68919e-08	4.87236e-08	1	1	0
RLIM	51132	broad.mit.edu	37	X	73812256	73812256	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:73812256T>C	ENST00000332687.6	-	4	1112	c.894A>G	c.(892-894)gcA>gcG	p.A298A	RLIM_ENST00000349225.2_Silent_p.A298A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	298					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGAAGAACCTGCTCCTTGAG	0.488000													34	15					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10231294	10231294	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:10231294A>G	ENST00000418404.3	-	21	2743	c.2580T>C	c.(2578-2580)ttT>ttC	p.F860F	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.F860F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	860					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						TGGTCCTCTCAAAGTCTTCCT	0.547000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	20					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	172016855	172016855	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:172016855C>T	ENST00000360843.3	-	1	488	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TLK1_ENST00000521943.1_Intron|TLK1_ENST00000442919.2_5'UTR|TLK1_ENST00000431350.2_Silent_p.A28A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	28					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGGCCGCCGCCGCCGAGCCCG	0.682000													4	50					0	0	1	0	0
RFXANK	8625	broad.mit.edu	37	19	19308943	19308943	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19308943G>C	ENST00000303088.4	+	7	940	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	RFXANK_ENST00000392324.4_Missense_Mutation_p.E133Q|RFXANK_ENST00000353145.1_Missense_Mutation_p.E133Q|RFXANK_ENST00000456252.3_Missense_Mutation_p.E134Q|RFXANK_ENST00000407360.3_Missense_Mutation_p.E156Q	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	156						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CCTGGCAAAAGAGCGAGAGAG	0.597000													74	165					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44969330	44969330	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:44969330G>T	ENST00000377967.4	+	28	4053	c.4012G>T	c.(4012-4014)Gtt>Ttt	p.V1338F	KDM6A_ENST00000543216.1_Missense_Mutation_p.V1259F|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Missense_Mutation_p.V1293F|KDM6A_ENST00000382899.4_Missense_Mutation_p.V1345F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1338					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACAGGTGGAGGTTTTTGATCT	0.338000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								36	23					1.08052e-11	1.13604e-11	1	1	0
BUB1B	701	broad.mit.edu	37	15	40488917	40488917	+	Missense_Mutation	SNP	C	C	G	rs61733369	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:40488917C>G	ENST00000287598.6	+	9	1425	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L	BUB1B_ENST00000412359.3_Missense_Mutation_p.F424L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	410					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TAGGGGAATTCTCCTTTGAAG	0.408000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				51	94					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045538	6045538	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:6045538C>G	ENST00000265849.7	-	2	253	c.148G>C	c.(148-150)Ggt>Cgt	p.G50R	PMS2_ENST00000382321.4_Missense_Mutation_p.G50R|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G50R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	50					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTAGTGGCACCAGCATCCAGA	0.398000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				175	379					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38095721	38095721	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:38095721C>A	ENST00000397166.2	+	5	1141	c.616C>A	c.(616-618)Cat>Aat	p.H206N	DDHD2_ENST00000520272.2_Missense_Mutation_p.H206N	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	206					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TGTTGACATTCATTGTGGTAA	0.418000													32	63					3.03874e-20	3.2992e-20	1	1	0
KRT15	3866	broad.mit.edu	37	17	39674601	39674601	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:39674601A>G	ENST00000254043.3	-	1	4064	c.479T>C	c.(478-480)aTt>aCt	p.I160T	KRT15_ENST00000393976.2_Missense_Mutation_p.I160T|KRT15_ENST00000393974.3_Silent_p.L23L|KRT15_ENST00000393981.3_Silent_p.L23L	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	160	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GAGCTCTTCAATGGTCTTGAA	0.537000													82	81					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241421610	241421610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:241421610C>A	ENST00000391987.1	-	16	2974	c.2608G>T	c.(2608-2610)Gag>Tag	p.E870*	ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E640*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E772*|ANKMY1_ENST00000272972.3_Nonsense_Mutation_p.E870*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E959*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E646*|ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E649*|ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E631*	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	870							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGCCCCTGCTCCTTCACATCC	0.612000													34	70					1.30998e-17	1.41649e-17	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27101586	27101586	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:27101586C>T	ENST00000324856.7	+	18	5239	c.4868C>T	c.(4867-4869)tCg>tTg	p.S1623L	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1406L|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1240L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1623					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCTGCCTCGCACATAGCA	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								52	78					0	0	1	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199009	107199009	+	RNA	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:107199009C>T	ENST00000433072.2	-	0	359																											TTTGAATCATCTCTTGAGATG	0.502000													77	165					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329086	88329086	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:88329086G>A	ENST00000325089.6	+	2	1662	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	SLITRK5_ENST00000400028.3_Silent_p.Q240Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	481						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGGCCTGCAGAGCCTGCAGT	0.537000													49	70					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72146982	72146982	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:72146982G>C	ENST00000305425.4	-	4	1717	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Nonsense_Mutation_p.S484*|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	482					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTAATAACTGATGTCTCAAC	0.398000													42	83					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23017195	23017195	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:23017195T>G	ENST00000255008.3	+	1	1139	c.1075T>G	c.(1075-1077)Tgc>Ggc	p.C359G	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	359					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGGGCAGGGTGCATGTGCCC	0.652000													40	28					0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134131509	134131509	+	Silent	SNP	A	A	G	rs7943666	by1000genomes	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:134131509A>G	ENST00000543332.1	+	8	821	c.654A>G	c.(652-654)caA>caG	p.Q218Q	ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Intron|ACAD8_ENST00000281182.4_Intron			Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	316					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		AGAAAAAGCAAGAGACTTTGA	0.443000													2	4					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89760379	89760379	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:89760379G>A	ENST00000268125.5	-	5	757	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	106					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACGGCCCACGTTGAACTTCC	0.657000													18	41					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27276416	27276416	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:27276416G>A	ENST00000360131.4	+	3	521	c.362G>A	c.(361-363)cGc>cAc	p.R121H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R121H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	121					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGGGAACGCATTCGAGAC	0.498000													35	109					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85498432	85498432	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:85498432G>C	ENST00000370587.1	-	7	1055	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Missense_Mutation_p.L227V|MCOLN3_ENST00000341115.4_Missense_Mutation_p.L171V			Q8TDD5	MCLN3_HUMAN	mucolipin 3	227						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ACTGTCTGCAGATTAATGGCT	0.408000													104	75					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48547243	48547243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:48547243G>A	ENST00000317697.3	-	2	206	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	ASB8_ENST00000536953.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000540782.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000535988.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000536071.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000536549.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000535055.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000539528.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000537754.1_Intron	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	13					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TATTTGCTCTGAATGCTCTGC	0.448000													55	81					0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122674	75122674	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:75122674T>C	ENST00000395018.4	+	3	613	c.456T>C	c.(454-456)gcT>gcC	p.A152A	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	152						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						AGCAATCAGCTGAGAAGTGTC	0.602000													14	29					0	0	1	0	0
CYB5R1	51706	broad.mit.edu	37	1	202936373	202936373	+	Translation_Start_Site	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:202936373G>C	ENST00000367249.4	-	0	35					NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			CAAGCCGACAGATCCCACAAT	0.716000													10	20					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114498181	114498181	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:114498181G>A	ENST00000375353.3	+	4	340	c.313G>A	c.(313-315)Gtg>Atg	p.V105M		NM_182614.2	NP_872420.1			transmembrane protein 255B																		CTGCGCCATCGTGGACGGCGT	0.527000													52	57					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998594	46998594	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:46998594G>A	ENST00000599531.1	-	1	1161	c.129C>T	c.(127-129)ctC>ctT	p.L43L	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Silent_p.L43L|AC011484.1_ENST00000377652.3_3'UTR	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	43										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaggggcaggagggtcggct	0.667000													38	165					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33368255	33368255	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:33368255G>T	ENST00000270112.2	+	10	1840	c.1480G>T	c.(1480-1482)Gac>Tac	p.D494Y		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	494					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGCTTCCCCGACAAAGGTGG	0.602000													10	24					7.48243e-07	7.71444e-07	1	1	0
LTN1	26046	broad.mit.edu	37	21	30307608	30307608	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:30307608T>C	ENST00000389194.2	-	27	4841	c.4836A>G	c.(4834-4836)tcA>tcG	p.S1612S	LTN1_ENST00000361371.5_Silent_p.S1566S	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1566							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATGATAGACTGAACAAGCCA	0.343000													15	34					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111756	186111756	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:186111756C>T	ENST00000458385.2	-	2	714	c.595G>A	c.(595-597)Gat>Aat	p.D199N	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D199N|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D199N	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	199	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGAGACGAATCAGATAGATGG	0.403000													18	4					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155922418	155922418	+	Splice_Site	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155922418C>A	ENST00000462460.2	-	19	2374		c.e19+1		ARHGEF2_ENST00000368316.1_Splice_Site|ARHGEF2_ENST00000313667.4_Splice_Site|ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000368315.4_Splice_Site|ARHGEF2_ENST00000361247.4_Splice_Site|ARHGEF2_ENST00000477754.2_Intron			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTCCCTCACCCTCACGGAT	0.607000													30	49					2.46105e-21	2.69399e-21	1	1	0
ZNF641	121274	broad.mit.edu	37	12	48736909	48736909	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:48736909C>T	ENST00000544117.2	-	6	1872	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	ZNF641_ENST00000301042.3_Silent_p.V388V|ZNF641_ENST00000448928.3_Silent_p.V365V|ZNF641_ENST00000547026.1_Silent_p.V374V			Q96N77	ZN641_HUMAN	zinc finger protein 641	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.V388V(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GCCAGTGTCTCACAAGGTGGT	0.597000													14	179					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100988	27100988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:27100988C>T	ENST00000324856.7	+	18	4641	c.4270C>T	c.(4270-4272)Cag>Tag	p.Q1424*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1041*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1424					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1424*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTTCCCCTCAGCAAGATGT	0.622000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								40	68					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559788	11559788	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:11559788C>T	ENST00000252455.2	+	15	1661	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	PRKCSH_ENST00000591462.1_Missense_Mutation_p.S439F|PRKCSH_ENST00000592741.1_Missense_Mutation_p.S449F|PRKCSH_ENST00000589838.1_Missense_Mutation_p.S442F|PRKCSH_ENST00000412601.1_Missense_Mutation_p.S439F|PRKCSH_ENST00000587327.1_Missense_Mutation_p.S439F	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	442	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CTCGGGGGCTCTCCCACCAGC	0.642000													77	145					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78676636	78676636	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:78676636C>T	ENST00000436010.2	-	24	4590	c.3593G>A	c.(3592-3594)cGa>cAa	p.R1198Q	ROBO1_ENST00000464233.1_Missense_Mutation_p.R1237Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1137Q|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1192Q			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1237					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGTGGGGCCTCGTTCATCTTC	0.507000													18	28					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24856260	24856260	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:24856260G>A	ENST00000313367.2	-	18	2447	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	OSBPL3_ENST00000396429.1_Missense_Mutation_p.P630S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P599S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P630S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P635S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P635S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P599S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	666					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GTGCCAATTGGAACAATTTCC	0.398000													74	116					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10022460	10022460	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:10022460C>T	ENST00000256190.8	-	8	999		c.e8+1		SBF2_ENST00000527019.1_Splice_Site	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGAATACTTACAAGTTCATGG	0.363000													24	13					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109240615	109240615	+	Silent	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:109240615C>G	ENST00000220849.5	-	7	665	c.603G>C	c.(601-603)gtG>gtC	p.V201V	EIF3E_ENST00000519030.1_Silent_p.V108V|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	201					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GTGGAGAACTCACAGACTAAA	0.333000													37	75					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990422	47990422	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:47990422C>G	ENST00000371741.4	-	2	1841	c.1675G>C	c.(1675-1677)Gaa>Caa	p.E559Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	559					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTCAAGTTCTTCCTTTGGT	0.493000													81	174					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94310554	94310554	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:94310554A>G	ENST00000299001.6	+	4	620	c.409A>G	c.(409-411)Aga>Gga	p.R137G	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	137					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTAGCATCTAGAAGGCTGAG	0.383000													4	52					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3704662	3704662	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:3704662C>T	ENST00000324932.7	-	30	5106	c.4686G>A	c.(4684-4686)gaG>gaA	p.E1562E	NUP98_ENST00000355260.3_Silent_p.E1488E|NUP98_ENST00000359171.4_Silent_p.E1488E	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1579					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAACAGCCTTCTCACGTATGC	0.537000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								34	17					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160006935	160006935	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:160006935G>A	ENST00000263635.6	+	7	787	c.550G>A	c.(550-552)Gca>Aca	p.A184T	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	184	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGCAGCACCGCATCTCCTAG	0.527000													26	51					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838679	43838679	+	Missense_Mutation	SNP	C	C	T	rs141628178	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:43838679C>T	ENST00000319294.6	+	7	1038	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	UBASH3A_ENST00000398367.1_Missense_Mutation_p.T298M|UBASH3A_ENST00000291535.6_Missense_Mutation_p.T298M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	336	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAAAACTACACGGATCGAGCC	0.612000													20	28					0	0	1	0	0
EMC3-AS1	442075	broad.mit.edu	37	3	10029522	10029522	+	RNA	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:10029522G>A	ENST00000326237.3	+	0	354																											TGTCATGGTTGAGAGACTGGA	0.388000													7	9					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833476	176833476	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:176833476C>T	ENST00000367654.3	-	23	4064	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E1277K|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						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						GTCTGCTCCTCACACGTCTTC	0.577000													74	102					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94155051	94155051	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:94155051C>A	ENST00000553484.1	+	46	7287	c.7133C>A	c.(7132-7134)aCc>aAc	p.T2378N	UNC79_ENST00000256339.4_Missense_Mutation_p.T2179N|UNC79_ENST00000555664.1_Missense_Mutation_p.T2317N|UNC79_ENST00000393151.2_Missense_Mutation_p.T2356N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2356						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATGAAGATACCTTTGGGGGA	0.502000													38	69					1.60099e-16	1.71719e-16	1	1	0
TULP3	7289	broad.mit.edu	37	12	3000150	3000150	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:3000150G>C	ENST00000448120.2	+	1	88	c.37G>C	c.(37-39)Gac>Cac	p.D13H	TULP3_ENST00000397132.2_Missense_Mutation_p.D13H	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	13					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCAGCGGCGACAGGTCAGA	0.711000													7	13					0	0	1	0	0
LOC494141	494141	broad.mit.edu	37	11	18231289	18231289	+	Missense_Mutation	SNP	C	C	A	rs4757627	by1000genomes	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:18231289C>A	ENST00000527059.1	+	1	535	c.75C>A	c.(73-75)ttC>ttA	p.F25L	RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.F25L|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.F25L																							CTAACATCTTCGAAACAAGAT	0.363000													4	60					2.56e-06	2.61908e-06	1	1	0
AGMO	392636	broad.mit.edu	37	7	15430465	15430465	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:15430465C>T	ENST00000342526.3	-	7	911	c.742G>A	c.(742-744)Ggg>Agg	p.G248R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	248					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTTACTTACCAAAAATTTTA	0.264000													29	43					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34823439	34823439	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34823439G>C	ENST00000265109.3	+	15	1779	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	RAI14_ENST00000503673.1_Missense_Mutation_p.E498Q|RAI14_ENST00000512629.1_Missense_Mutation_p.E469Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E501Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E498Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E491Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E490Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	498						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GGCTATGAAAGAAGTCCTTAG	0.438000													37	49					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38135986	38135986	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:38135986C>G	ENST00000339363.3	-	15	2727	c.2560G>C	c.(2560-2562)Gat>Cat	p.D854H	RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Missense_Mutation_p.D587H|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.D649H			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	854	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATCCACATCTTCTAGTTTT	0.353000													40	21					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34884827	34884827	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:34884827C>G	ENST00000415930.3	+	12	1121	c.951C>G	c.(949-951)caC>caG	p.H317Q	GPI_ENST00000586425.1_Missense_Mutation_p.H306Q|GPI_ENST00000356487.5_Missense_Mutation_p.H306Q	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	306					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGGACCAGCACTTCCGCACGA	0.627000													106	454					0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125967431	125967431	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:125967431C>A	ENST00000357147.3	+	1	18	c.5C>A	c.(4-6)gCt>gAt	p.A2D		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	2										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCAGGAATGGCTTCAGGGAAA	0.378000													25	76					4.7796e-09	4.98578e-09	1	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124196	142124196	+	RNA	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:142124196G>A	ENST00000390376.2	-	0	281																											ACACCAGCCTGAGTGGGAAAT	0.507000													146	278					0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43523941	43523941	+	Missense_Mutation	SNP	C	C	A	rs220111	by1000genomes	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:43523941C>A	ENST00000329015.2	-	2	443	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400424.2_Intron					chromosome 21 open reading frame 128											lung(4)	4						GTCGTGAAGACGTTGATGGAT	0.537000													4	52					2.56e-06	2.61908e-06	1	1	0
ZNF14	7561	broad.mit.edu	37	19	19822176	19822176	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19822176C>T	ENST00000344099.3	-	4	2052	c.1914G>A	c.(1912-1914)atG>atA	p.M638I		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CTTTCTCTCCCATATGAGTCC	0.413000													32	69					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242082263	242082263	+	Nonsense_Mutation	SNP	G	G	A	rs144572631		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:242082263G>A	ENST00000544142.1	-	1	225	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	PASK_ENST00000403638.3_Missense_Mutation_p.T62I|PASK_ENST00000234040.4_Missense_Mutation_p.T62I|PASK_ENST00000358649.4_Missense_Mutation_p.T62I|PASK_ENST00000539818.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.T62I			Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	0			E -> K (in a metastatic melanoma sample; somatic mutation).		regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.T62I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGAGCGCTGTCCTGCTCTG	0.562000													4	50					0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125967495	125967495	+	Silent	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:125967495C>G	ENST00000357147.3	+	1	82	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	23										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						ATGAGAGTCTCTATAAATCTG	0.398000													27	66					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34312571	34312571	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:34312571T>C	ENST00000361162.6	-	8	992	c.608A>G	c.(607-609)gAt>gGt	p.D203G	RBM39_ENST00000528062.3_Missense_Mutation_p.D181G|RBM39_ENST00000407261.4_Missense_Mutation_p.D46G|RBM39_ENST00000253363.6_Missense_Mutation_p.D203G	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	203	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGAGCTAACATCGACGAACTC	0.413000													73	184					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767332	150767332	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:150767332C>T	ENST00000485713.1	+	10	2388	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	SLC4A2_ENST00000413384.2_Silent_p.L450L|SLC4A2_ENST00000310317.5_Silent_p.L368L|SLC4A2_ENST00000392826.2_Silent_p.L441L|SLC4A2_ENST00000461735.1_Silent_p.L436L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	450				LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGGGCTCCCTGCTGGGGCA	0.642000													46	72					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54640370	54640370	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:54640370A>G	ENST00000230640.5	+	9	1181	c.927A>G	c.(925-927)acA>acG	p.T309T	SKIV2L2_ENST00000545714.1_Silent_p.T208T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	309					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTATTTACACAGATTATCGGC	0.348000													16	35					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47147508	47147508	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:47147508G>A	ENST00000409792.3	-	6	4860	c.4818C>T	c.(4816-4818)ttC>ttT	p.F1606F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1606	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAGGGCCATGAAATAGTAAT	0.378000			"""N, F, S, Mis"""		clear cell renal carcinoma								55	130					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237159	5237159	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:5237159G>A	ENST00000274181.7	+	14	2239	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	701	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G701W(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTCAAAGATGGGACTCCATG	0.373000													42	96					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912514	32912514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:32912514C>G	ENST00000544455.1	+	11	4249	c.4022C>G	c.(4021-4023)tCa>tGa	p.S1341*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S1341*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1341					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGCAGTGATTCAAGTAAAAAT	0.303000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			25	46					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37816164	37816164	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:37816164C>T	ENST00000326524.2	-	3	424	c.225G>A	c.(223-225)ctG>ctA	p.L75L	GDNF_ENST00000344622.4_Silent_p.L49L|GDNF_ENST00000381826.4_Silent_p.L66L|GDNF_ENST00000515058.1_Silent_p.L49L|GDNF_ENST00000427982.1_Silent_p.L92L	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	75					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GTGACCTTTTCAGTCTTTTAA	0.438000													41	89					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746352	37746352	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:37746352G>A	ENST00000539465.1	+	16	4916	c.4323G>A	c.(4321-4323)ggG>ggA	p.G1441G	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.G1441G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1441						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTTCCTGGGGGGTTGGAAACA	0.572000													10	19					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189061706	189061706	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:189061706C>G	ENST00000332517.3	+	2	573	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	145					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AATCCTGAATCTTTTGCGTGT	0.478000													100	34					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34823332	34823332	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34823332G>C	ENST00000265109.3	+	15	1672	c.1385G>C	c.(1384-1386)cGa>cCa	p.R462P	RAI14_ENST00000503673.1_Missense_Mutation_p.R462P|RAI14_ENST00000512629.1_Missense_Mutation_p.R433P|RAI14_ENST00000515799.1_Missense_Mutation_p.R465P|RAI14_ENST00000428746.2_Missense_Mutation_p.R462P|RAI14_ENST00000397449.1_Missense_Mutation_p.R455P|RAI14_ENST00000506376.1_Missense_Mutation_p.R454P	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	462						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCCAATCCCGAAGGGCAGAA	0.443000													37	67					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170038769	170038769	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038769G>A	ENST00000284637.9	-	9	2023	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	561						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTGAGCTGCTGATACCACAGC	0.587000													74	90					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238305397	238305397	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:238305397T>C	ENST00000295550.4	-	2	516	c.64A>G	c.(64-66)Aca>Gca	p.T22A	COL6A3_ENST00000472056.1_Missense_Mutation_p.T22A|COL6A3_ENST00000392003.2_Missense_Mutation_p.T22A|COL6A3_ENST00000392004.3_Missense_Mutation_p.T22A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T22A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T22A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T22A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T22A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	22					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATGAGTTGTAGGAAAGCCT	0.418000													54	89					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060617	128060617	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:128060617G>T	ENST00000254730.6	+	5	1382	c.1328G>T	c.(1327-1329)cGg>cTg	p.R443L	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.R388L	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	443						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.R443>?(1)|p.R443P(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AACACGTGCCGGCTAGCCTTC	0.602000													47	73					2.74695e-27	3.04454e-27	1	1	0
CDC14B	8555	broad.mit.edu	37	9	99381613	99381613	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:99381613G>C	ENST00000375241.1	-	1	499	c.48C>G	c.(46-48)ccC>ccG	p.P16P	CDC14B_ENST00000265659.2_Silent_p.P16P|CDC14B_ENST00000463569.1_Silent_p.P16P|CDC14B_ENST00000375236.1_Silent_p.P16P|CDC14B_ENST00000375240.3_Silent_p.P16P	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	16					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCCGCGAGCAGGGGGGCGCGG	0.761000													12	5					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171761	207171761	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:207171761C>G	ENST00000374423.3	+	5	2895	c.2509C>G	c.(2509-2511)Ctt>Gtt	p.L837V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	837							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGATATTCCTCTTCATTCAGG	0.358000													29	46					0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62244847	62244847	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:62244847C>G	ENST00000216294.4	+	6	855	c.751C>G	c.(751-753)Caa>Gaa	p.Q251E		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	251	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGGAAATTCACAAGAAACGGA	0.333000													18	48					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21608984	21608984	+	Silent	SNP	G	G	A	rs137912595		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:21608984G>A	ENST00000538582.1	+	7	1245	c.492G>A	c.(490-492)ttG>ttA	p.L164L	PYROXD1_ENST00000240651.9_Silent_p.L235L|PYROXD1_ENST00000545178.1_3'UTR			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	235							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GAAGTGCATTGGGACCAGATT	0.308000													43	64					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902965	22902965	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:22902965G>C	ENST00000166244.3	+	3	487	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q	EPHA8_ENST00000374644.4_Missense_Mutation_p.E139Q|EPHA8_ENST00000538803.1_Missense_Mutation_p.E139Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	139						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCACACAAGAAAGCCAGTT	0.612000													42	60					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92074649	92074649	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:92074649G>A	ENST00000256343.3	-	22	2854	c.2698C>T	c.(2698-2700)Cac>Tac	p.H900Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	900					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)				TTTGACATGTGAAACATGTTT	0.299000													29	54					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31197051	31197051	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:31197051A>G	ENST00000362065.4	+	2	476	c.185A>G	c.(184-186)gAa>gGa	p.E62G	FAN1_ENST00000561607.1_Missense_Mutation_p.E62G|FAN1_ENST00000561594.1_Missense_Mutation_p.E62G|FAN1_ENST00000565466.1_Missense_Mutation_p.E62G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	62					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CACCTTGATGAAATGTGTGCT	0.403000								Direct reversal of damage					17	60					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831658	58831658	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:58831658C>G	ENST00000355431.3	+	20	3224	c.2851C>G	c.(2851-2853)Ctg>Gtg	p.L951V	ARID4A_ENST00000348476.3_Missense_Mutation_p.L951V|ARID4A_ENST00000431317.2_Missense_Mutation_p.L951V|ARID4A_ENST00000395168.3_Missense_Mutation_p.L951V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	951	Retinoblastoma protein binding (Potential).				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCAATGCCTCTGATCGGGCC	0.408000													57	125					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127654607	127654607	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:127654607C>T	ENST00000508053.1	-	41	5532	c.4558G>A	c.(4558-4560)Ggt>Agt	p.G1520S	FBN2_ENST00000262464.4_Missense_Mutation_p.G1520S			P35556	FBN2_HUMAN	fibrillin 2	1520	EGF-like 25; 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)		AATTCATAACCATCATCGCAG	0.378000													29	83					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155154488	155154488	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155154488C>T	ENST00000368382.1	+	9	1817	c.1680C>T	c.(1678-1680)ggC>ggT	p.G560G	TRIM46_ENST00000545012.1_Silent_p.G457G|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368383.3_Silent_p.G583G|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Silent_p.G583G|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000543729.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	583	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTCCTGGGCGACGTGGCTG	0.667000													14	25					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19504100	19504100	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:19504100G>A	ENST00000407835.1	+	17	1747	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	CDC45_ENST00000263201.1_Silent_p.L497L|CDC45_ENST00000404724.3_Silent_p.L451L|CDC45_ENST00000437685.2_Silent_p.L529L			O75419	CDC45_HUMAN	cell division cycle 45	497					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|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	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTGCCCCCCTGAGCATGGAGC	0.632000													22	35					0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75905329	75905329	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:75905329C>T	ENST00000229214.4	-	1	72	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	KRR1_ENST00000438169.2_Missense_Mutation_p.E17K	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	17					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTACGAAATTCACTTTTTCCA	0.502000													46	100					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519375	50519375	+	Splice_Site	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:50519375G>A	ENST00000267842.5	+	7	1689	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	SLC27A2_ENST00000544960.1_Splice_Site_p.R251Q|SLC27A2_ENST00000380902.4_Splice_Site_p.R433Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	486					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GATACATTCCGGTTGGTTTTT	0.403000													30	58					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060846	35060846	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:35060846C>A	ENST00000373913.3	+	3	1206	c.726C>A	c.(724-726)ttC>ttA	p.F242L	DLGAP4_ENST00000373907.2_Missense_Mutation_p.F242L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.F242L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.F242L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	242					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CACGCTACTTCATGCACGCCT	0.637000													41	125					2.77807e-22	3.05358e-22	1	1	0
SCAMP3	10067	broad.mit.edu	37	1	155230165	155230165	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155230165C>T	ENST00000355379.3	-	3	544	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	SCAMP3_ENST00000302631.3_Missense_Mutation_p.R115Q|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	115					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)			TCGCTCCCTTCGGTCCAACTC	0.582000													59	94					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225796298	225796298	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:225796298C>G	ENST00000409592.3	-	2	306	c.193G>C	c.(193-195)Gat>Cat	p.D65H	DOCK10_ENST00000258390.7_Missense_Mutation_p.D71H|DOCK10_ENST00000474102.1_5'UTR			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	71							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)		AACAAGAGATCTTGAAGAGGA	0.428000													7	18					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100701034	100701034	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:100701034G>C	ENST00000370132.4	-	3	222	c.209C>G	c.(208-210)tCa>tGa	p.S70*	DBT_ENST00000370131.3_Nonsense_Mutation_p.S70*	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2		Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCAATGTCTGAGAGCTTGAA	0.299000													41	87					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943289	44943289	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:44943289G>C	ENST00000296125.4	+	8	905	c.837G>C	c.(835-837)ctG>ctC	p.L279L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	279					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTCAGTGCTGAGAGCGTTGG	0.587000													15	33					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179151700	179151700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:179151700C>T	ENST00000247461.4	+	13	1761	c.1561C>T	c.(1561-1563)Caa>Taa	p.Q521*	CANX_ENST00000452673.2_Nonsense_Mutation_p.Q521*|CANX_ENST00000512607.2_Nonsense_Mutation_p.Q413*|CANX_ENST00000504734.1_Nonsense_Mutation_p.Q521*|CANX_ENST00000415618.2_Nonsense_Mutation_p.Q556*	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	521					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATGCACCTCAACCGGATGT	0.398000													38	74					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133047065	133047065	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:133047065C>T	ENST00000262283.5	-	14	1431	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	OC90_ENST00000603859.1_Silent_p.Q232Q|OC90_ENST00000254627.3_Silent_p.Q232Q|OC90_ENST00000443356.2_Silent_p.Q248Q			Q02509	OC90_HUMAN	otoconin 90	248					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCACTCCTTCCTGATCGTGGC	0.567000													49	99					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824386	34824386	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34824386G>C	ENST00000265109.3	+	15	2726	c.2439G>C	c.(2437-2439)gaG>gaC	p.E813D	RAI14_ENST00000503673.1_Missense_Mutation_p.E813D|RAI14_ENST00000512629.1_Missense_Mutation_p.E784D|RAI14_ENST00000515799.1_Missense_Mutation_p.E816D|RAI14_ENST00000428746.2_Missense_Mutation_p.E813D|RAI14_ENST00000397449.1_Missense_Mutation_p.E806D|RAI14_ENST00000506376.1_Missense_Mutation_p.E805D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	813						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTGTGAAAGAGAAAGAGAAGG	0.413000													60	128					0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30659991	30659991	+	Missense_Mutation	SNP	C	C	T	rs150499755		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:30659991C>T	ENST00000215781.2	-	3	680	c.640G>A	c.(640-642)Gag>Aag	p.E214K	OSM_ENST00000403389.1_Missense_Mutation_p.E193K	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	214					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TTCGGGCTCTCCCCCCACTTG	0.637000													39	59					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951275	176951275	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:176951275G>A	ENST00000329540.5	-	9	3914	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	FAM193B_ENST00000514747.1_Missense_Mutation_p.S736L|FAM193B_ENST00000443375.2_Missense_Mutation_p.S703L			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	412										kidney(1)|large_intestine(3)	4						TGCTGGGCCTGAGGGCTGCAC	0.667000													5	5					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687065	37687065	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:37687065G>C	ENST00000447079.4	+	14	4002	c.3969G>C	c.(3967-3969)ttG>ttC	p.L1323F	CDK12_ENST00000430627.2_Missense_Mutation_p.L1314F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1323					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCAGGCCTTGAGACCAATGG	0.562000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			101	96					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998590	46998590	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:46998590G>A	ENST00000599531.1	-	1	1165	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Missense_Mutation_p.P45S|AC011484.1_ENST00000377652.3_3'UTR	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	45										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gtgcccaggggcaggagggtc	0.657000													39	168					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487277	56487277	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:56487277C>T	ENST00000267101.3	+	12	1863	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	ERBB3_ENST00000415288.2_Missense_Mutation_p.R416W|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	475					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAAGGTGCTTCGGGGGCCTAC	0.547000													91	61					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30358451	30358451	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:30358451G>C	ENST00000327564.7	+	5	2092	c.2031G>C	c.(2029-2031)tgG>tgC	p.W677C	LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000341671.7_Missense_Mutation_p.W650C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.W568C			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	650						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTCAGGCCTGGCACGGAATGC	0.328000													16	145					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757598	46757598	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:46757598C>A	ENST00000256689.5	-	12	1409	c.965G>T	c.(964-966)aGa>aTa	p.R322I	SLC38A2_ENST00000551374.1_Missense_Mutation_p.R160I	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	322					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATCATTCTTCTACGGCTGCG	0.338000													25	56					1.33986e-20	1.46067e-20	1	1	0
GPR110	266977	broad.mit.edu	37	6	46977913	46977913	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:46977913G>C	ENST00000371253.2	-	11	1473	c.1258C>G	c.(1258-1260)Ctt>Gtt	p.L420V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L223V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	420					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTCAGAGGAAGAGCTGTCGGA	0.438000													32	103					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43628317	43628317	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:43628317A>G	ENST00000264663.5	+	7	1013	c.792A>G	c.(790-792)gaA>gaG	p.E264E	NNT_ENST00000512996.2_Silent_p.E133E|NNT_ENST00000344920.4_Silent_p.E264E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	264					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CAGCTTTGGAACAGTTCAAGT	0.413000													72	138					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79891201	79891201	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:79891201C>T	ENST00000337943.5	-	7	1291	c.849G>A	c.(847-849)aaG>aaA	p.K283K	PYCR1_ENST00000403172.4_Silent_p.K252K|PYCR1_ENST00000577756.1_3'UTR|PYCR1_ENST00000329875.8_Silent_p.K283K|PYCR1_ENST00000402252.2_Silent_p.K310K	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	283					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GGATGGTCTTCTTGATGGCGG	0.642000													22	54					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873446	37873446	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:37873446G>A	ENST00000295324.3	-	2	1285	c.285C>T	c.(283-285)ttC>ttT	p.F95F	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	95					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GCGTTTCTGTGAACACAGAGT	0.532000													59	128					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48138177	48138177	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:48138177G>A	ENST00000311303.3	-	20	3121	c.2776C>T	c.(2776-2778)Cac>Tac	p.H926Y	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	926	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTCTGCGTGAAACGGCAGC	0.488000													83	160					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33795931	33795931	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:33795931G>A	ENST00000389232.4	+	3	341	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	RYR3_ENST00000415757.3_Missense_Mutation_p.G91S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	91					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAAATGGCGGCGAAGGGGT	0.483000													4	15					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94711948	94711948	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:94711948C>T	ENST00000304338.3	+	13	1523	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	457						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TATAGATCATCTTCCAGAAAT	0.308000													66	90					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28231760	28231760	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:28231760C>T	ENST00000354638.3	-	12	1367	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	OCA2_ENST00000353809.5_Silent_p.T380T|OCA2_ENST00000382996.2_Silent_p.T404T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	404			T -> M (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.T404T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGAAAAATCCCGTTTCTGAAA	0.303000									Oculocutaneous Albinism				67	132					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30995215	30995215	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:30995215G>A	ENST00000262519.8	+	19	5681	c.4995G>A	c.(4993-4995)aaG>aaA	p.K1665K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1665	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCAGAAGAAGATCGTGATCT	0.582000													11	14					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973532	235973532	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:235973532G>T	ENST00000389794.3	-	5	760	c.586C>A	c.(586-588)Cct>Act	p.P196T	LYST_ENST00000536965.1_Missense_Mutation_p.P196T|LYST_ENST00000389793.2_Missense_Mutation_p.P196T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	196					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGTTTAGGAAACGATGTT	0.428000													87	162					9.11151e-29	1.01408e-28	1	1	0
OTOF	9381	broad.mit.edu	37	2	26717812	26717812	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:26717812C>T	ENST00000272371.2	-	9	1021	c.895G>A	c.(895-897)Gag>Aag	p.E299K	OTOF_ENST00000403946.3_Missense_Mutation_p.E299K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	299	C2 1.				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)					CCACTGACCTCGTTGTAATAG	0.572000													30	82					0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57472424	57472424	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:57472424G>A	ENST00000300128.4	-	1	128	c.105C>T	c.(103-105)tcC>tcT	p.S35S	TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Silent_p.S35S	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	35						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCAAGCAGCCGGAGAGGATCA	0.672000													57	181					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717074	39717074	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:39717074T>C	ENST00000553728.1	+	4	1509	c.1296T>C	c.(1294-1296)atT>atC	p.I432I	MIA2_ENST00000556784.1_Silent_p.I431I|MIA2_ENST00000280082.3_Silent_p.I432I																							CGATAAAAATTATAGAAACAG	0.318000													54	74					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806112	1806112	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1806112C>T	ENST00000340107.4	+	9	1393	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	FGFR3_ENST00000481110.2_Silent_p.L377L|FGFR3_ENST00000440486.2_Silent_p.L377L|FGFR3_ENST00000260795.2_Silent_p.L377L|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	377					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.L377L(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CAGGCATCCTCAGCTACGGGG	0.687000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				334	70					0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48925201	48925201	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:48925201C>T	ENST00000376396.3	+	10	1665	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	CCDC120_ENST00000597275.1_Silent_p.L482L|CCDC120_ENST00000422185.2_Silent_p.L482L|CCDC120_ENST00000536628.2_Silent_p.L470L|CCDC120_ENST00000496529.2_Silent_p.L482L|CCDC120_ENST00000603986.1_Silent_p.L517L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	482	Pro-rich.						protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						ATGGGCTCCTCACCATGCTCC	0.711000													21	9					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92074642	92074642	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:92074642G>A	ENST00000256343.3	-	22	2861	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	902					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)				ATTTACCTTTGACATGTGAAA	0.308000													27	51					0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67353963	67353963	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:67353963G>C	ENST00000398606.3	+	7	797	c.548G>C	c.(547-549)cGc>cCc	p.R183P	GSTP1_ENST00000398603.1_Missense_Mutation_p.R147P|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	183	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TATGTGGGGCGCCTCAGTGCC	0.617000													22	38					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56480971	56480971	+	Missense_Mutation	SNP	C	C	T	rs143148236		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:56480971C>T	ENST00000370765.6	-	24	7401	c.7294G>A	c.(7294-7296)Gat>Aat	p.D2432N	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1751					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCAAAGAATCAGCAAGTTCT	0.438000													83	67					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174632	150174632	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:150174632C>T	ENST00000307271.3	+	5	2336	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	588						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAAGCCCTTCGGCGCATTTT	0.463000													61	86					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62029000	62029000	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:62029000C>A	ENST00000578147.1	-	14	2713	c.2637G>T	c.(2635-2637)aaG>aaT	p.K879N	SCN4A_ENST00000435607.1_Missense_Mutation_p.K879N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	879					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCGGCTCCTTCTTCTCATCCT	0.652000													5	19					1	1	1	1	0
UGP2	7360	broad.mit.edu	37	2	64114602	64114602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:64114602G>T	ENST00000337130.5	+	8	1614	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	UGP2_ENST00000467648.2_Nonsense_Mutation_p.E369*|UGP2_ENST00000394417.2_Nonsense_Mutation_p.E369*|UGP2_ENST00000445915.2_Nonsense_Mutation_p.E389*	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	380					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAAAAGTTTTGAGAATTCTCT	0.423000													36	79					6.84511e-11	7.1685e-11	1	1	0
MEN1	4221	broad.mit.edu	37	11	64571830	64571830	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:64571830G>C	ENST00000337652.1	-	10	2327	c.1824C>G	c.(1822-1824)ctC>ctG	p.L608L	MEN1_ENST00000315422.4_Silent_p.L603L|MEN1_ENST00000312049.6_Silent_p.L603L|MEN1_ENST00000394374.2_Silent_p.L608L|MEN1_ENST00000394376.1_Silent_p.L608L|MEN1_ENST00000377313.1_Silent_p.L608L|MEN1_ENST00000377316.2_Silent_p.L548L|MEN1_ENST00000443283.1_Silent_p.L608L|MEN1_ENST00000377326.3_Silent_p.L603L|MEN1_ENST00000377321.1_Silent_p.L568L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	608					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GCTGCCGCTTGAGGAAAGACA	0.577000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				114	177					0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11810185	11810185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:11810185C>T	ENST00000510878.1	+	4	344	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000314340.5_Missense_Mutation_p.A139V|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376629.4_Missense_Mutation_p.A132V			Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	0						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGACTCAGCAGAGGCGCCC	0.607000													14	35					0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	74984960	74984960	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:74984960C>T	ENST00000428202.2	-	9	1195	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	POC5_ENST00000380475.2_Missense_Mutation_p.E219K|POC5_ENST00000514838.2_Missense_Mutation_p.E308K|POC5_ENST00000446329.2_Missense_Mutation_p.E311K|POC5_ENST00000510798.1_Missense_Mutation_p.E219K	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	336					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTTGAATCTCAGCTTTTGCA	0.308000													5	11					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797155	92797155	+	Missense_Mutation	SNP	G	G	A	rs143874024		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:92797155G>A	ENST00000377067.3	+	7	1846	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	492						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGCATGGTTGAACAAGTCAG	0.468000													48	91					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90327727	90327727	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:90327727C>G	ENST00000369408.5	+	9	1118	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.L257V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.L257V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.L257V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.L257V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	257							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GGAAGTTGCTCTTCTCCTTAC	0.542000													65	47					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744002	140744002	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:140744002G>A	ENST00000518069.1	+	1	105	c.105G>A	c.(103-105)atG>atA	p.M35I	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTCGATGCCGGAGGAGC	0.667000													27	37					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2602373	2602373	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:2602373G>T	ENST00000399655.1	+	7	1199	c.934G>T	c.(934-936)Gac>Tac	p.D312Y	CACNA1C_ENST00000344100.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D312Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	312					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCAGAAGATGACCCTTCCCC	0.592000													39	65					2.87052e-16	3.0665e-16	1	1	0
FLNC	2318	broad.mit.edu	37	7	128470904	128470904	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:128470904C>T	ENST00000325888.8	+	1	474	c.213C>T	c.(211-213)atC>atT	p.I71I	FLNC_ENST00000346177.6_Silent_p.I71I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	71	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCGGCTCATCGCGCTGCTCG	0.637000													16	35					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012710	73012710	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:73012710C>T	ENST00000261180.4	+	13	2322	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	742					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGAGATTATCAGATACCTGT	0.398000													29	62					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107335098	107335098	+	Silent	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:107335098G>T	ENST00000265715.3	+	12	1598	c.1374G>T	c.(1372-1374)ctG>ctT	p.L458L	SLC26A4_ENST00000543100.1_Silent_p.L27L|SLC26A4_ENST00000541474.1_Silent_p.L19L|SLC26A4_ENST00000544569.1_Silent_p.L45L|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	458					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGCCAACCTGAAAGGGATGT	0.418000									Pendred syndrome				40	75					6.61955e-31	7.42954e-31	1	1	0
TFG	10342	broad.mit.edu	37	3	100463742	100463742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:100463742C>T	ENST00000240851.4	+	7	1127	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	TFG_ENST00000418917.2_Nonsense_Mutation_p.Q259*|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q263*|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Nonsense_Mutation_p.Q259*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	263					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GGCTCCACCTCAGCAGCCTCA	0.463000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								49	112					0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57472425	57472425	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:57472425G>A	ENST00000300128.4	-	1	127	c.104C>T	c.(103-105)tCc>tTc	p.S35F	TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Missense_Mutation_p.S35F	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	35						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGCAGCCGGAGAGGATCAA	0.672000													58	185					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40379652	40379652	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:40379652G>C	ENST00000293328.3	-	3	348	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	60					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCCTCCAGGAGCTGGGTGG	0.502000													47	35					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65564407	65564407	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:65564407G>T	ENST00000308330.2	+	1	1057	c.1031G>T	c.(1030-1032)gGa>gTa	p.G344V	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	344					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GAGCAGGGAGGAGGGTGTGAT	0.627000													22	71					2.32416e-17	2.50294e-17	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70681661	70681661	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:70681661G>C	ENST00000377844.4	-	1	930	c.171C>G	c.(169-171)ctC>ctG	p.L57L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	57	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L57L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTGGCTTTTGAGCAGGCGAC	0.617000													49	92					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44833549	44833549	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:44833549C>T	ENST00000354340.4	-	4	812	c.761G>A	c.(760-762)tGt>tAt	p.C254Y	ZNF112_ENST00000337401.4_Missense_Mutation_p.C260Y|ZNF112_ENST00000536500.1_Missense_Mutation_p.C277Y	NM_013380.3	NP_037512.3			zinc finger protein 112																		ATACCCAGTACATGGATAGGG	0.423000													44	243					0	0	1	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935135	73935135	+	Missense_Mutation	SNP	G	G	C	rs6927398	by1000genomes	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:73935135G>C	ENST00000423730.3	-	4	740	c.305C>G	c.(304-306)aCa>aGa	p.T102R	KHDC1L_ENST00000471312.1_5'UTR|KHDC1L_ENST00000370388.3_5'UTR														p.T102R(1)									CGGCCATGCTGTGCTCCCACC	0.522000													3	30					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102462345	102462345	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:102462345G>C	ENST00000370103.4	-	1	241	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	24						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGCAGCAGGAGGTTGAGAAGG	0.433000													34	67					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19951738	19951738	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:19951738G>A	ENST00000361682.6	+	5	913	c.531G>A	c.(529-531)aaG>aaA	p.K177K	COMT_ENST00000407537.1_Silent_p.K127K|COMT_ENST00000449653.1_Silent_p.K127K|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000406520.3_Silent_p.K177K|COMT_ENST00000403710.1_Silent_p.K177K|COMT_ENST00000403184.1_Silent_p.K177K	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	177					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CCCAGCTGAAGAAGAAGTATG	0.592000													61	111					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521413	40521413	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:40521413G>A	ENST00000347077.4	+	7	2452	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E720K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	746					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATACTGGTGAGAAACCTTA	0.398000													150	79					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44966676	44966676	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:44966676G>A	ENST00000377967.4	+	27	3941	c.3900G>A	c.(3898-3900)ctG>ctA	p.L1300L	KDM6A_ENST00000543216.1_Silent_p.L1221L|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Silent_p.L1255L|KDM6A_ENST00000382899.4_Silent_p.L1307L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1300					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAAGAACTCTGAAGCAATGTC	0.373000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								66	18					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669042	44669042	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:44669042A>G	ENST00000243964.3	+	7	741	c.643A>G	c.(643-645)Aag>Gag	p.K215E	SLC12A5_ENST00000372315.1_Missense_Mutation_p.K215E|SLC12A5_ENST00000454036.2_Missense_Mutation_p.K238E	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	238					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCATCTTCAAGGCAGAAGA	0.557000													91	282					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136137	55136137	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:55136137G>A	ENST00000314706.3	+	1	778	c.778G>A	c.(778-780)Ggg>Agg	p.G260R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAGTTTGGAAGGGAAACGAAA	0.428000													89	106					0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50500080	50500080	+	Missense_Mutation	SNP	G	G	A	rs34783513	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:50500080G>A	ENST00000301149.3	+	4	602	c.370G>A	c.(370-372)Gag>Aag	p.E124K	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.E101K	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	124					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GGGGGTAGACGAGGGCCCCAA	0.622000													3	31					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965186	196965186	+	Silent	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:196965186C>A	ENST00000367414.5	+	6	953	c.897C>A	c.(895-897)ctC>ctA	p.L299L	CFHR5_ENST00000256785.4_Silent_p.L275L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	275	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TACCTGAACTCGAGTACGGTT	0.348000													59	108					7.82978e-24	8.642e-24	1	1	0
C4orf21	55345	broad.mit.edu	37	4	113545020	113545020	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:113545020C>G	ENST00000505019.1	-	4	240	c.115G>C	c.(115-117)Gat>Cat	p.D39H	C4orf21_ENST00000445203.2_Missense_Mutation_p.D8H|C4orf21_ENST00000309071.5_Missense_Mutation_p.D39H	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	39										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCTTTGTCATCATATAAAATT	0.254000													39	9					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22052270	22052270	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:22052270C>T	ENST00000306385.5	+	12	2147	c.1477C>T	c.(1477-1479)Ctg>Ttg	p.L493L	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.L493L|BMP1_ENST00000306349.8_Silent_p.L493L|BMP1_ENST00000397816.3_Silent_p.L493L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	493	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTACGACTATCTGGAGGTGCG	0.617000													31	52					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751604	46751604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:46751604C>A	ENST00000343304.6	-	4	1210	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	309										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGCTTGGCTTCACTCTTACGC	0.627000													5	29					0.000602214	0.000611409	1	1	0
LSS	4047	broad.mit.edu	37	21	47648499	47648499	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:47648499C>A	ENST00000397728.3	-	2	107	c.29G>T	c.(28-30)cGa>cTa	p.R10L	LSS_ENST00000457828.2_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.R10L|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000522411.1_Missense_Mutation_p.R10L	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	10					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGGCCCCCTCGGCGCCGCAG	0.746000													5	8					1.23904e-05	1.26278e-05	1	1	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				38	10					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763286	62763286	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:62763286G>C	ENST00000336232.2	-	7	1026	c.891C>G	c.(889-891)ctC>ctG	p.L297L	SLC22A8_ENST00000535878.1_Silent_p.L174L|SLC22A8_ENST00000311438.8_Silent_p.L297L|SLC22A8_ENST00000545207.1_Silent_p.L206L|SLC22A8_ENST00000430500.2_Silent_p.L297L	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	297					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGTTGAGTTTGAGCTCCTTCG	0.582000													60	98					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644201	53644201	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:53644201T>A	ENST00000452676.2	-	5	2309	c.1883A>T	c.(1882-1884)tAt>tTt	p.Y628F	ZNF347_ENST00000334197.7_Missense_Mutation_p.Y627F|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.Y628F	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATACTCATTATACTTGTAAGG	0.378000													198	114					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45216772	45216772	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:45216772G>C	ENST00000279027.4	-	8	1065	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L	SLC13A3_ENST00000495082.1_Missense_Mutation_p.F302L|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.F299L|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F302L|SLC13A3_ENST00000372121.1_Missense_Mutation_p.F299L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	349						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.F349F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAACATGCAGAAAAGGATGA	0.592000													14	58					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9545099	9545099	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:9545099C>T	ENST00000352665.5	+	13	1703	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	WDR16_ENST00000299764.5_Missense_Mutation_p.S555F|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.S477F	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	545						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTTCCCTGTCTGGGTCGATA	0.463000													38	25					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99096378	99096378	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:99096378C>T	ENST00000337673.6	-	2	747	c.544G>A	c.(544-546)Gag>Aag	p.E182K	ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	182	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCGCACTCTCTCTGCAGAAG	0.577000													20	44					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220073250	220073250	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:220073250G>C	ENST00000409097.1	+	7	687	c.630G>C	c.(628-630)caG>caC	p.Q210H	ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409336.1_Intron|ZFAND2B_ENST00000409217.1_Intron|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q210H|ZFAND2B_ENST00000289528.5_Intron			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	0						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAACACACAGAGAGTGAAGT	0.547000													44	78					0	0	1	0	0
ZNF830	91603	broad.mit.edu	37	17	33289624	33289624	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:33289624G>C	ENST00000361952.3	+	1	1076	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	347					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AAAGGAAGAAGAGAATGCTGA	0.423000													104	68					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734275	28734275	+	RNA	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:28734275C>G	ENST00000550043.1	+	0	680																											GCTGCTCTCTCATTTGCTGGC	0.488000													29	35					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37173929	37173929	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:37173929G>A	ENST00000274258.7	-	32	6326	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	C5orf42_ENST00000425232.2_Silent_p.F2033F|C5orf42_ENST00000508244.1_Silent_p.F2033F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2033										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGAGCCGTGAATTCATTTC	0.403000													64	91					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170038745	170038745	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038745G>C	ENST00000284637.9	-	9	2047	c.1706C>G	c.(1705-1707)cCt>cGt	p.P569R	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	569						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTAGCCTGAGGACTTGTCTG	0.582000													79	89					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808503	48808503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:48808503C>A	ENST00000309835.3	+	1	741	c.731C>A	c.(730-732)tCa>tAa	p.S244*	STON1_ENST00000404752.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S244*|STON1_ENST00000406226.1_Nonsense_Mutation_p.S244*					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACCAAGACTCACTTAGAAGT	0.433000													51	80					3.07002e-29	3.43119e-29	1	1	0
CCDC144CP	348254	broad.mit.edu	37	17	20224675	20224675	+	RNA	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:20224675C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							TGAGGGGTCTCCGAAGCCGGC	0.647000													16	6					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34949727	34949727	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:34949727A>G	ENST00000439527.2	+	13	1509	c.1011A>G	c.(1009-1011)gcA>gcG	p.A337A	UBA2_ENST00000246548.4_Silent_p.A433A|UBA2_ENST00000592791.1_5'UTR			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	433					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCCTTGTGCACTGGATCCTC	0.433000													164	106					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16982110	16982110	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:16982110C>T	ENST00000379803.1	+	15	2603	c.2589C>T	c.(2587-2589)atC>atT	p.I863I	SIN3B_ENST00000595541.1_Silent_p.I421I|SIN3B_ENST00000248054.5_Silent_p.I831I	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	863					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGGCAGCATCGACCCCACGC	0.612000													48	65					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045054	16045054	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:16045054C>T	ENST00000402119.4	-	1	591	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CYP4F11_ENST00000326742.8_Silent_p.P55P|CYP4F11_ENST00000248041.8_Silent_p.P55P	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AGTTCTGTTTCGGGGGTTGAG	0.612000													34	70					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902808	22902808	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:22902808G>A	ENST00000166244.3	+	3	330	c.258G>A	c.(256-258)acG>acA	p.T86T	EPHA8_ENST00000374644.4_Silent_p.T86T|EPHA8_ENST00000538803.1_Silent_p.T86T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	86						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTGCGCACGAGCTGGGTCC	0.617000													50	83					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596632	11596632	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:11596632C>T	ENST00000304391.6	+	5	845	c.727C>T	c.(727-729)Cct>Tct	p.P243S	PTCHD2_ENST00000389575.3_Silent_p.F1356F|PTCHD2_ENST00000294484.6_Silent_p.F1356F			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					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)		GGACTTCCTTCCTCAAGGCCC	0.672000													15	14					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62029011	62029011	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:62029011C>T	ENST00000578147.1	-	14	2702	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	SCN4A_ENST00000435607.1_Missense_Mutation_p.E876K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	876					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TTCTCATCCTCGGGGGCAGTC	0.657000													4	13					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189876410	189876410	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:189876410G>C	ENST00000304636.3	+	51	4481	c.4311G>C	c.(4309-4311)gtG>gtC	p.V1437V	COL3A1_ENST00000317840.5_Silent_p.V1134V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1437	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAAGGCTGTGAGACTACCTA	0.393000													36	83					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70765492	70765492	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:70765492G>C	ENST00000361983.4	+	4	712	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	204					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTACAGATTTGAAAAGGTTTA	0.368000													17	29					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24784190	24784190	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:24784190G>C	ENST00000342947.3	-	3	820	c.395C>G	c.(394-396)tCt>tGt	p.S132C	DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.S132C	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	132					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCTCTCGGCAGAGTCTCTGAT	0.493000													59	73					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87921738	87921738	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:87921738G>A	ENST00000309893.2	-	7	980	c.915C>T	c.(913-915)tcC>tcT	p.S305S		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	305					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		AATGTCTCTAGGACCTTGTGC	0.458000													41	66					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116403955	116403955	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:116403955C>G	ENST00000281928.3	-	29	6525	c.6319G>C	c.(6319-6321)Gag>Cag	p.E2107Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAAGATTCTCAGCTTTGGCA	0.488000													75	135					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045870	53045870	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:53045870G>A	ENST00000309680.3	-	1	78	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	19	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGAAGCCCCGGAAtcctcctc	0.577000													5	9					0	0	1	0	0
NR2C2AP	126382	broad.mit.edu	37	19	19313302	19313302	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19313302G>C	ENST00000331552.7	-	3	575	c.212C>G	c.(211-213)tCc>tGc	p.S71C	NR2C2AP_ENST00000538165.2_Missense_Mutation_p.S71C|NR2C2AP_ENST00000544883.1_Intron|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.S71C	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein						cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCGGCGACTGGAGAAGCCACC	0.617000													22	68					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31760563	31760563	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:31760563G>A	ENST00000375663.3	-	4	1072	c.632C>T	c.(631-633)tCa>tTa	p.S211L	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	211	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGGCTCCTGAGTATAGAAC	0.562000													68	25					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58131830	58131830	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:58131830A>G	ENST00000396161.5	+	3	653	c.343A>G	c.(343-345)Att>Gtt	p.I115V		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	115						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGAGGCCTCAATTGTGAAGAA	0.463000													94	63					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79609410	79609410	+	RNA	SNP	G	G	T	rs7406219	by1000genomes	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:79609410G>T	ENST00000328585.4	+	0	62					NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGCGCCTGTGCTGGGGGCTT	0.657000													6	129					0.248553	0.24949	1	1	0
SH3RF1	57630	broad.mit.edu	37	4	170038903	170038903	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038903G>A	ENST00000284637.9	-	9	1889	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	516	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGACATAGGGACTTTAGCTT	0.527000													26	38					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75239146	75239146	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:75239146C>T	ENST00000360663.5	-	2	326	c.215G>A	c.(214-216)aGa>aAa	p.R72K	PPP3CB_ENST00000342558.3_Missense_Mutation_p.R72K|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394822.2_Missense_Mutation_p.R72K|PPP3CB_ENST00000394828.2_Missense_Mutation_p.R72K|PPP3CB_ENST00000394829.2_Missense_Mutation_p.R72K			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	72	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					ATTGATAATTCTAAGCGCAAT	0.403000													115	226					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38209839	38209839	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:38209839T>C	ENST00000394126.1	-	1	506	c.88A>G	c.(88-90)Aac>Gac	p.N30D	MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394128.2_Missense_Mutation_p.N5D|MED24_ENST00000356271.3_Missense_Mutation_p.N5D|MED24_ENST00000501516.3_Missense_Mutation_p.N5D|MED24_ENST00000394127.2_Missense_Mutation_p.N5D			O75448	MED24_HUMAN	mediator complex subunit 24	5					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGCTTCAGGTTGACCACCTTC	0.488000													68	184					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39584344	39584344	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr18:39584344G>A	ENST00000262039.4	+	10	1095	c.1009G>A	c.(1009-1011)Gtt>Att	p.V337I	PIK3C3_ENST00000398870.3_Missense_Mutation_p.V274I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	337				FLKCVN -> ILTSVI (in Ref. 1; CAA87094).	cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CTTGAAATGTGTTAATTGGGA	0.413000										TSP Lung(28;0.18)			44	15					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69672519	69672519	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:69672519G>C	ENST00000374355.3	+	1	365	c.48G>C	c.(46-48)ttG>ttC	p.L16F	DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCATGGGCTTGGGCTCCGCCT	0.706000													3	15					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70351453	70351453	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:70351453C>T	ENST00000333646.6	+	29	4300	c.4101C>T	c.(4099-4101)atC>atT	p.I1367I	MED12_ENST00000374080.3_Silent_p.I1367I|MED12_ENST00000374102.1_Silent_p.I1367I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1367					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCTCATGATCAAGCAGACCC	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						27	11					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28086093	28086093	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:28086093G>A	ENST00000373954.6	+	8	894	c.792G>A	c.(790-792)atG>atA	p.M264I	FAM76A_ENST00000419687.2_Missense_Mutation_p.M184I|FAM76A_ENST00000530324.1_Missense_Mutation_p.M264I|FAM76A_ENST00000373949.1_Missense_Mutation_p.M235I|FAM76A_ENST00000010299.6_Missense_Mutation_p.M298I|FAM76A_ENST00000234549.7_Missense_Mutation_p.M269I	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	264										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCAAAATGAACCAGATGG	0.413000													22	45					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753361	104753361	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:104753361C>G	ENST00000334877.4	+	26	5566	c.5032C>G	c.(5032-5034)Ccg>Gcg	p.P1678A	KMT2E_ENST00000311117.3_Missense_Mutation_p.P1720A|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1720A					lysine (K)-specific methyltransferase 2E																		ACCACCCCCTCCGCCGCCACC	0.552000													41	46					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116854869	116854869	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:116854869G>A	ENST00000374118.3	-	14	1473	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	545					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGGGTGCCCAGGGTGGGGGCC	0.652000													11	5					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46745288	46745288	+	Splice_Site	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:46745288T>C	ENST00000343304.6	-	8	2306		c.e8-2		LRRC41_ENST00000472710.1_Splice_Site	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41											breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTAATCTCTGTCAAGAAAA	0.502000													59	115					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791435	151791435	+	Silent	SNP	C	C	T	rs138436495	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:151791435C>T	ENST00000434507.1	+	4	560	c.123C>T	c.(121-123)ccC>ccT	p.P41P	GALNT11_ENST00000430044.2_Silent_p.P41P|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Silent_p.P41P|GALNT11_ENST00000415421.1_Silent_p.P41P|GALNT11_ENST00000422997.2_Silent_p.P41P|GALNT11_ENST00000482812.1_3'UTR			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	41						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGAATGTGCCCGTCAAGGGGT	0.473000													12	284					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18567938	18567938	+	Missense_Mutation	SNP	C	C	T	rs149153003	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:18567938C>T	ENST00000329627.7	+	5	934	c.728C>T	c.(727-729)gCg>gTg	p.A243V	PEX26_ENST00000428061.2_Intron|PEX26_ENST00000399744.3_Missense_Mutation_p.A243V	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26						protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	p.A243V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGACTCTGCGGTGAGCCAC	0.542000													5	85					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13062090	13062090	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:13062090G>C	ENST00000014914.5	+	2	1797	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	303						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CTACTCTCAAGAGGAAATCAC	0.453000													21	37					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49933858	49933858	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:49933858G>A	ENST00000355854.4	-	4	884	c.387C>T	c.(385-387)ctC>ctT	p.L129L	CAB39L_ENST00000347776.5_Silent_p.L129L|CAB39L_ENST00000409308.1_Silent_p.L129L|CAB39L_ENST00000410043.1_Silent_p.L129L	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	129					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ACCCTTTGAGGAGCATAAACA	0.393000													30	79					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109471320	109471320	+	Splice_Site	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:109471320G>C	ENST00000407272.1	+	6	917		c.e6-1		CEP57L1_ENST00000359793.3_Splice_Site|CEP57L1_ENST00000523787.1_Splice_Site|CEP57L1_ENST00000368968.2_Splice_Site|CEP57L1_ENST00000521277.1_Intron|CEP57L1_ENST00000521522.1_Splice_Site|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000519095.1_Splice_Site|CEP57L1_ENST00000517392.1_Splice_Site|CEP57L1_ENST00000368970.2_Splice_Site|CEP57L1_ENST00000336977.4_Intron	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1							microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						ttatttcATAGATATAAGTAT	0.378000													55	25					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3432259	3432259	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:3432259G>A	ENST00000301365.4	-	10	1404	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	TRPV3_ENST00000572519.1_Silent_p.L425L|TRPV3_ENST00000576742.1_Silent_p.L425L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	425						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGCGTGTGCAGCGGCTCCAGG	0.517000													111	164					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468004	56468004	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:56468004G>T	ENST00000312153.1	+	1	141	c.141G>T	c.(139-141)ttG>ttT	p.L47F		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.L47F(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCATCGTGTTGATCTGTAATG	0.502000													18	99					3.73148e-12	3.95447e-12	1	1	0
ATP1A1	476	broad.mit.edu	37	1	116932977	116932977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:116932977delC	ENST00000537345.1	+	9	1529	c.1166delC	c.(1165-1167)gccfs	p.A389fs	ATP1A1_ENST00000295598.5_Frame_Shift_Del_p.A389fs|ATP1A1_ENST00000369496.4_Frame_Shift_Del_p.A358fs	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	389					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATGACAGTGGCCCACATGTGG	0.502													23	46	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													2	4	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142274739	142274740	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:142274739_142274740insT	ENST00000350721.4	-	10	2441_2442	c.2320_2321insA	c.(2320-2322)atafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Ins_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	774					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGGACTAGGTATTTTTTTTTTC	0.332								Other conserved DNA damage response genes					8	186	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644													7	689	---	---	---	---					
CLDN23	137075	broad.mit.edu	37	8	8560467	8560467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:8560467delG	ENST00000519106.1	+	1	1020	c.559delG	c.(559-561)gagfs	p.E187fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	187					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTGGTGCGACGAGCGTTGTCG	0.731													9	6	---	---	---	---					
PDCD11	22984	broad.mit.edu	37	10	105169473	105169474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:105169473_105169474insA	ENST00000369797.3	+	8	982_983	c.888_889insA	c.(889-891)acgfs	p.T297fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	297	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CATTTGGCCTTACGCTAAACTT	0.391													51	95	---	---	---	---					
WIF1	11197	broad.mit.edu	37	12	65445160	65445169	+	Frame_Shift_Del	DEL	CGCCGCTCCT	CGCCGCTCCT	-	rs145628728	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:65445160_65445169delCGCCGCTCCT	ENST00000286574.4	-	10	1474_1483	c.1100_1109delAGGAGCGGCG	c.(1099-1110)gaggagcggcggfs	p.EERR367fs		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	367					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGGTGGATCCCGCCGCTCCTCGGCCTTTTT	0.495			T	HMGA2	pleomorphic salivary gland adenoma								24	132	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													3	3	---	---	---	---					
