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
SMARCA2	6595	broad.mit.edu	37	9	2182201	2182201	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr9:2182201C>G	ENST00000382203.1	+	31	4629	c.4420C>G	c.(4420-4422)Ctc>Gtc	p.L1474V	SMARCA2_ENST00000357248.2_Missense_Mutation_p.L1456V|SMARCA2_ENST00000382186.1_Missense_Mutation_p.L138V|SMARCA2_ENST00000302401.3_Missense_Mutation_p.L162V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L1474V|SMARCA2_ENST00000382185.1_Missense_Mutation_p.L120V|SMARCA2_ENST00000324954.5_Missense_Mutation_p.L120V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L1456V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1474	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.L1474V(1)|p.L1470V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGTCATGCTTCTCTGTCACAA	0.433000													13	133					0	0	0.002450	0	0
OR12D2	26529	broad.mit.edu	37	6	29364564	29364564	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr6:29364564C>T	ENST00000383555.2	+	1	149	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CGTGGTTTTCCTCACCATCTA	0.448000													19	190					0	0	0.007413	0	0
TMC7	79905	broad.mit.edu	37	16	19056263	19056263	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr16:19056263G>C	ENST00000421369.3	+	10	1623	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N	TMC7_ENST00000304381.5_Missense_Mutation_p.K465N|TMC7_ENST00000569532.1_Missense_Mutation_p.K465N	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	465			T -> S (in dbSNP:rs55796412).			integral to membrane		p.K465N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGGCTCCAAGATCACATCCT	0.577000													9	132					0	0	0.006214	0	0
SLC39A9	55334	broad.mit.edu	37	14	69908920	69908920	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr14:69908920C>G	ENST00000336643.5	+	3	1018	c.340C>G	c.(340-342)Ctg>Gtg	p.L114V	SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.L114V|SLC39A9_ENST00000556605.1_Missense_Mutation_p.L114V	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	114					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L114V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTCCCTCGTTCTGGGCTTCGT	0.493000													9	152					0	0	0.008291	0	0
DVL3	1857	broad.mit.edu	37	3	183883995	183883995	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr3:183883995T>C	ENST00000313143.3	+	8	1093	c.845T>C	c.(844-846)aTg>aCg	p.M282T	DVL3_ENST00000431765.1_Missense_Mutation_p.M282T|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	282	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.M282T(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGCTCTATCATGAAGGGTGGG	0.512000													6	57					0	0	0.001168	0	0
NUP98	4928	broad.mit.edu	37	11	3714470	3714470	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:3714470C>T	ENST00000324932.7	-	27	4723	c.4303G>A	c.(4303-4305)Gca>Aca	p.A1435T	NUP98_ENST00000355260.3_Missense_Mutation_p.A1435T|NUP98_ENST00000359171.4_Missense_Mutation_p.A1435T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1452					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	p.A1435T(1)		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)		ACCTGAAATGCTTCTTCATAC	0.458000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								17	175					0	0	0.008871	0	0
OAF	220323	broad.mit.edu	37	11	120096462	120096462	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:120096462C>A	ENST00000328965.4	+	2	837	c.324C>A	c.(322-324)caC>caA	p.H108Q	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	108								p.H108Q(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		AGCTGCAGCACAATGAGATCA	0.637000													8	130					0.00307968	0.00333108	0.003080	1	0
PRB4	5545	broad.mit.edu	37	12	11461690	11461690	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr12:11461690C>T	ENST00000279575.1	-	3	260	c.227G>A	c.(226-228)gGa>gAa	p.G76E	PRB4_ENST00000535904.1_Missense_Mutation_p.G76E|PRB4_ENST00000445719.2_Missense_Mutation_p.G76E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	76	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region		p.G76E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.617000										HNSCC(22;0.051)			36	342					0	0	0.010771	0	0
ZFP36L1	677	broad.mit.edu	37	14	69259641	69259641	+	Silent	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr14:69259641G>C	ENST00000439696.2	-	1	316	c.15C>G	c.(13-15)ctC>ctG	p.L5L	ZFP36L1_ENST00000336440.3_Silent_p.L5L	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	5					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L5L(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGCAGACACGAGGGTGGTGG	0.557000													5	125					0	0	0.000602	0	0
PHF3	23469	broad.mit.edu	37	6	64422504	64422504	+	Missense_Mutation	SNP	C	C	T	rs147627550		TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr6:64422504C>T	ENST00000262043.3	+	16	5360	c.5020C>T	c.(5020-5022)Cgg>Tgg	p.R1674W	PHF3_ENST00000393387.1_Missense_Mutation_p.R1674W			Q92576	PHF3_HUMAN	PHD finger protein 3	1674					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R1674W(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGATAGTTGCCGGAATGGAGA	0.448000													3	48					0	0	0.004672	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230163	137230163	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr5:137230163G>C	ENST00000508638.1	+	4	444	c.389G>C	c.(388-390)aGa>aCa	p.R130T	PKD2L2_ENST00000502810.1_Missense_Mutation_p.R130T|PKD2L2_ENST00000350250.4_Missense_Mutation_p.R96T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R130T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.R130T	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	130						integral to membrane	calcium ion binding|ion channel activity	p.R130T(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGAGTTCCCAGAGTTCGTCAA	0.373000													10	113					0	0	0.013537	0	0
ZNF582	147948	broad.mit.edu	37	19	56895542	56895542	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr19:56895542C>G	ENST00000301310.4	-	5	1402	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	ZNF582_ENST00000586929.1_Missense_Mutation_p.R415T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R415T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTATGAATTCTGTAATGTAC	0.403000													8	84					0	0	0.004482	0	0
NFASC	23114	broad.mit.edu	37	1	204923376	204923376	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:204923376G>A	ENST00000367172.4	+	6	604	c.276G>A	c.(274-276)atG>atA	p.M92I	NFASC_ENST00000367170.4_Missense_Mutation_p.M92I|NFASC_ENST00000367169.4_Missense_Mutation_p.M92I|NFASC_ENST00000404076.1_Missense_Mutation_p.M86I|NFASC_ENST00000339876.6_Missense_Mutation_p.M92I|NFASC_ENST00000338515.6_Missense_Mutation_p.M92I|NFASC_ENST00000360049.4_Missense_Mutation_p.M86I|NFASC_ENST00000513543.1_Missense_Mutation_p.M86I|NFASC_ENST00000338586.6_Missense_Mutation_p.M92I|NFASC_ENST00000401399.1_Missense_Mutation_p.M92I|NFASC_ENST00000367171.4_Missense_Mutation_p.M92I|NFASC_ENST00000404907.1_Missense_Mutation_p.M86I|NFASC_ENST00000403080.1_Missense_Mutation_p.M92I|NFASC_ENST00000539706.1_Missense_Mutation_p.M86I			O94856	NFASC_HUMAN	neurofascin	92	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.M92I(2)|p.M86I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGTGTCCATGAGGAGGAGGT	0.582000													4	101					0	0	0.009096	0	0
ASB2	51676	broad.mit.edu	37	14	94413798	94413798	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr14:94413798C>G	ENST00000555019.1	-	7	1379	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.E269Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	269					intracellular signal transduction			p.E269Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		ACCACCTCCTCATGCTCATTC	0.587000													6	64					0	0	0.001984	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													7	51					0	0	0.010729	0	0
KANK1	23189	broad.mit.edu	37	9	713067	713067	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr9:713067C>A	ENST00000382303.1	+	7	2953	c.2301C>A	c.(2299-2301)aaC>aaA	p.N767K	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.N767K|KANK1_ENST00000382293.3_Missense_Mutation_p.N609K	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	767					negative regulation of actin filament polymerization	cytoplasm		p.N767K(1)|p.N609K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TAAATATTAACGACAACTATC	0.522000													3	57					0.004672	0.00498556	0.004672	1	0
TCF12	6938	broad.mit.edu	37	15	57383997	57383997	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr15:57383997A>G	ENST00000267811.5	+	5	537	c.233A>G	c.(232-234)gAc>gGc	p.D78G	TCF12_ENST00000452095.2_Missense_Mutation_p.D74G|TCF12_ENST00000333725.5_Missense_Mutation_p.D78G|TCF12_ENST00000438423.2_Missense_Mutation_p.D78G|TCF12_ENST00000557843.1_Missense_Mutation_p.D78G	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	78					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D78G(2)|p.D74G(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGTTTTACAGACAGCCCTCAT	0.413000			T	TEC	extraskeletal myxoid chondrosarcoma								6	67					0	0	0.001984	0	0
TLR7	51284	broad.mit.edu	37	X	12905921	12905921	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:12905921C>T	ENST00000380659.3	+	3	2433	c.2294C>T	c.(2293-2295)aCc>aTc	p.T765I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	765					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.T765I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATCCAAAAGACCAGCTTCCCA	0.413000													9	164					0	0	0.006214	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295905	7295905	+	Silent	SNP	C	C	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr12:7295905C>A	ENST00000537408.1	+	11	2419	c.1881C>A	c.(1879-1881)gtC>gtA	p.V627V	CLSTN3_ENST00000266546.6_Silent_p.V615V			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	615					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.V615V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCACTGCTGTCAAGTGAGTGT	0.582000													5	24					0.000602214	0.000664945	0.000602	1	0
HUWE1	10075	broad.mit.edu	37	X	53610529	53610529	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:53610529T>C	ENST00000342160.3	-	41	5966	c.5509A>G	c.(5509-5511)Acc>Gcc	p.T1837A	HUWE1_ENST00000262854.6_Missense_Mutation_p.T1837A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1837					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.T1700A(1)|p.T1837A(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTTTCCATGGTATGACGAAGG	0.438000													10	154					0	0	0.010729	0	0
SIK2	23235	broad.mit.edu	37	11	111590634	111590634	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:111590634C>T	ENST00000304987.3	+	10	1575	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	468					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.H468Y(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGACCCCGCTCATGCCTTTGA	0.592000													7	45					0	0	0.001984	0	0
IQCC	55721	broad.mit.edu	37	1	32672631	32672631	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:32672631C>T	ENST00000537469.1	+	4	755	c.708C>T	c.(706-708)agC>agT	p.S236S	IQCC_ENST00000291358.6_Silent_p.S156S	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	156								p.S156S(2)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCCCCACAGCCAACCTCAGC	0.527000													13	99					0	0	0.001855	0	0
OTOP3	347741	broad.mit.edu	37	17	72943371	72943371	+	Missense_Mutation	SNP	G	G	A	rs149666474	byFrequency	TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:72943371G>A	ENST00000328801.4	+	6	1421	c.1421G>A	c.(1420-1422)cGg>cAg	p.R474Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	474						integral to membrane|intracellular	zinc ion binding	p.R474Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCCTGCACCGGCGCCCACTC	0.662000													5	31					0	0	0.000602	0	0
ELMOD2	255520	broad.mit.edu	37	4	141458637	141458637	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr4:141458637G>A	ENST00000323570.3	+	5	473	c.341G>A	c.(340-342)aGt>aAt	p.S114N		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	114					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	p.S114N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GATGTAGAAAGTGTGAGGAAA	0.318000													8	69					0	0	0.004482	0	0
HTATSF1	27336	broad.mit.edu	37	X	135586542	135586542	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:135586542G>A	ENST00000535601.1	+	7	1176	c.754G>A	c.(754-756)Gag>Aag	p.E252K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.E252K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	252					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.E252K(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTGGAGACCTGAGAGGCGAGC	0.453000													4	63					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179418768	179418768	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:179418768G>T	ENST00000589042.1	-	333	89294	c.89070C>A	c.(89068-89070)gaC>gaA	p.D29690E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D20817E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20625E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D20750E|TTN_ENST00000342992.6_Missense_Mutation_p.D27122E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28049E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28049	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D20817E(1)|p.D20750E(1)|p.D27120E(1)|p.D20625E(1)|p.D27122E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTCTGGTGTCACGGATAG	0.418000													43	107					5.2432e-18	6.08518e-18	0.014410	1	0
PCYT1B	9468	broad.mit.edu	37	X	24580213	24580213	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:24580213T>C	ENST00000356768.4	-	9	1034	c.982A>G	c.(982-984)Aga>Gga	p.R328G	PCYT1B_ENST00000379144.2_3'UTR|PCYT1B_ENST00000492876.1_Intron|PCYT1B_ENST00000379145.1_3'UTR	NM_001163265.1	NP_001156737.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	328						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.R328G(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TAGAAGTCTCTGCACCTCGCC	0.517000													5	40					0	0	0.001168	0	0
RYR1	6261	broad.mit.edu	37	19	39018359	39018359	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr19:39018359G>A	ENST00000355481.4	+	72	10875	c.10744G>A	c.(10744-10746)Gat>Aat	p.D3582N	RYR1_ENST00000360985.3_Missense_Mutation_p.D3587N|RYR1_ENST00000359596.3_Missense_Mutation_p.D3587N|AC067969.1_ENST00000597015.1_RNA	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3587					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D3587N(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGACGCCGATGACCCCGA	0.652000													5	59					0	0	0.000602	0	0
RICTOR	253260	broad.mit.edu	37	5	39021218	39021218	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr5:39021218C>T	ENST00000357387.3	-	3	148	c.118G>A	c.(118-120)Gag>Aag	p.E40K	RICTOR_ENST00000296782.5_Missense_Mutation_p.E40K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	40					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGGAGAATCTCTCTTAAGTTA	0.313000													12	154					0	0	0.002450	0	0
TBP	6908	broad.mit.edu	37	6	170871049	170871049	+	Silent	SNP	G	G	A	rs10592951		TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr6:170871049G>A	ENST00000392092.2	+	3	504	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TBP_ENST00000230354.6_Silent_p.Q75Q|TBP_ENST00000540980.1_Silent_p.Q55Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	75	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcaacagcagcagcagc	0.567000													4	35					0	0	0.000602	0	0
FAM166A	401565	broad.mit.edu	37	9	140138730	140138730	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr9:140138730C>T	ENST00000344774.4	-	6	812	c.758G>A	c.(757-759)aGa>aAa	p.R253K		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	253								p.R253K(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GTGGGGGTTTCTAAACAGGAA	0.602000													5	34					0	0	0.000602	0	0
MED13	9969	broad.mit.edu	37	17	60024297	60024297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:60024297G>A	ENST00000397786.2	-	29	6449	c.6373C>T	c.(6373-6375)Cag>Tag	p.Q2125*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2125					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Q2125*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAAGTCTGATTTGAGTCA	0.393000													9	164					0	0	0.008291	0	0
AGMO	392636	broad.mit.edu	37	7	15601385	15601385	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr7:15601385G>A	ENST00000342526.3	-	1	255	c.86C>T	c.(85-87)tCa>tTa	p.S29L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	29					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	p.S29L(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGTTTGGAATGAAGTTTCACT	0.408000													9	109					0	0	0.006214	0	0
IGF1	3479	broad.mit.edu	37	12	102811743	102811743	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr12:102811743C>G	ENST00000456098.1	-	4	659	c.441G>C	c.(439-441)caG>caC	p.Q147H	IGF1_ENST00000424202.2_Intron|IGF1_ENST00000307046.8_Missense_Mutation_p.Q147H|IGF1_ENST00000392904.1_Missense_Mutation_p.Q147H|IGF1_ENST00000337514.6_Intron	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	147					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	p.Q147H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CTTTCCTTCTCTGAGACTTCG	0.468000													20	229					0	0	0.007413	0	0
PRB4	5545	broad.mit.edu	37	12	11461564	11461564	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr12:11461564C>T	ENST00000279575.1	-	3	386	c.353G>A	c.(352-354)gGa>gAa	p.G118E	PRB4_ENST00000535904.1_Missense_Mutation_p.G118E|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	181	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region		p.G118E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.607000										HNSCC(22;0.051)			29	253					0	0	0.014410	0	0
CDC73	79577	broad.mit.edu	37	1	193218933	193218933	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:193218933A>T	ENST00000367435.3	+	16	1675	c.1491A>T	c.(1489-1491)ttA>ttT	p.L497F	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	497					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.L497F(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TAACAGTATTAGAACTCAGCT	0.393000													11	144					0	0	0.010729	0	0
SV2B	9899	broad.mit.edu	37	15	91810797	91810797	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr15:91810797G>T	ENST00000394232.1	+	8	1602	c.1132G>T	c.(1132-1134)Gcc>Tcc	p.A378S	SV2B_ENST00000545111.2_Missense_Mutation_p.A227S|SV2B_ENST00000330276.4_Missense_Mutation_p.A378S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	378					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.A378S(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTGGGATAATGCCCTGTACTG	0.423000													3	21					0.00024832	0.000276104	0.009096	1	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3593383	3593383	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:3593383G>C	ENST00000550383.1	-	6	783	c.595C>G	c.(595-597)Ccc>Gcc	p.P199A	P2RX5_ENST00000547178.1_Missense_Mutation_p.P199A|P2RX5_ENST00000435558.1_Missense_Mutation_p.P199A|P2RX5_ENST00000552276.1_Missense_Mutation_p.P199A|P2RX5_ENST00000552050.1_Missense_Mutation_p.P139A|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000225328.5_Missense_Mutation_p.P199A|P2RX5_ENST00000345901.3_Missense_Mutation_p.P175A|P2RX5_ENST00000551178.1_Missense_Mutation_p.P175A														p.P199A(1)									TTGAATTTGGGGAAACGGATG	0.582000													94	212					0	0	0.014410	0	0
NRG3	10718	broad.mit.edu	37	10	84744853	84744853	+	Splice_Site	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr10:84744853G>C	ENST00000372142.2	+	11	1266		c.e11-1		NRG3_ENST00000372141.2_Splice_Site|NRG3_ENST00000545131.1_Splice_Site|NRG3_ENST00000556918.1_Splice_Site|NRG3_ENST00000404547.1_Splice_Site|NRG3_ENST00000537893.1_Splice_Site|NRG3_ENST00000404576.2_Splice_Site	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3						regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.?(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCTTTTTCAGGTATTCATCC	0.383000													47	220					0	0	0.014410	0	0
FBRS	64319	broad.mit.edu	37	16	30676242	30676242	+	Splice_Site	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr16:30676242G>T	ENST00000356166.6	+	8	2651		c.e8+1		FBRS_ENST00000568722.1_Intron|FBRS_ENST00000395073.2_Splice_Site|FBRS_ENST00000287468.5_Splice_Site			Q9HAH7	FBRS_HUMAN	fibrosin									p.?(1)		ovary(1)	1			Colorectal(24;0.103)			CCCCCACATGGTGAGCTCCTC	0.677000													4	11					0.00909568	0.00951456	0.009096	1	0
EIF3K	27335	broad.mit.edu	37	19	39123104	39123104	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr19:39123104G>C	ENST00000545173.2	+	5	465	c.389G>C	c.(388-390)gGt>gCt	p.G130A	EIF3K_ENST00000538434.1_Missense_Mutation_p.G43A|EIF3K_ENST00000593149.1_Missense_Mutation_p.G43A|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000248342.4_Missense_Mutation_p.G130A|EIF3K_ENST00000592558.1_Missense_Mutation_p.G130A			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	130					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	p.G130A(1)	EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCTTGGAAGGTATAACTGGC	0.458000													12	162					0	0	0.002450	0	0
ZNF678	339500	broad.mit.edu	37	1	227843344	227843344	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:227843344G>A	ENST00000343776.4	+	4	1738	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.E520K			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	520					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E465K(1)|p.E520K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAAATGTGAAGAATGTGGCAA	0.363000													6	66					0	0	0.001984	0	0
OR2W5	441932	broad.mit.edu	37	1	247655031	247655031	+	RNA	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:247655031G>T	ENST00000522351.1	+	0	662							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C201F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATTCACCTTTGCCCTGGGGGT	0.592000													9	259					4.68919e-08	5.36389e-08	0.008291	1	0
OR5J2	282775	broad.mit.edu	37	11	55944458	55944458	+	Missense_Mutation	SNP	G	G	A	rs151315491		TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:55944458G>A	ENST00000312298.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTATGACCGCTATGTGGCC	0.453000													17	76					0	0	0.004990	0	0
MYO16	23026	broad.mit.edu	37	13	109610094	109610094	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr13:109610094G>A	ENST00000356711.2	+	17	2044	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	MYO16_ENST00000251041.5_Missense_Mutation_p.E640K|MYO16_ENST00000457511.2_Missense_Mutation_p.E152K|MYO16_ENST00000357550.2_Missense_Mutation_p.E640K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	640	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.E640K(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTGAACAGGGAGAAATTGGC	0.458000													6	23					0	0	0.003080	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415373	213415373	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:213415373G>A	ENST00000366960.3	+	11	2704	c.2554G>A	c.(2554-2556)Gat>Aat	p.D852N	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D555N|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D840N|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D640N	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	852	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.D852N(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCAGACTGATGATTTGGCTAA	0.383000													12	299					0	0	0.003163	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68111195	68111195	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr8:68111195G>C	ENST00000262215.3	-	39	5913	c.5524C>G	c.(5524-5526)Cag>Gag	p.Q1842E	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1842					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.Q1842E(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCAAGTTCCTGTTCAGGTGGT	0.383000													10	66					0	0	0.008291	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186252	153186252	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:153186252G>A	ENST00000370028.3	-	5	566	c.509C>T	c.(508-510)aCg>aTg	p.T170M	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.T147M|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.T170M|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.T149M	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	170					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T170M(2)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTGGTACGTCTTCTTGGC	0.662000													6	116					0	0	0.001168	0	0
FZD2	2535	broad.mit.edu	37	17	42635739	42635739	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:42635739C>T	ENST00000315323.3	+	1	815	c.683C>T	c.(682-684)gCg>gTg	p.A228V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	228					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A228V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGAACCTGCGCGGCCCGAT	0.622000													10	32					0	0	0.008291	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920916	5920916	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr9:5920916T>C	ENST00000399933.3	-	8	5079	c.5080A>G	c.(5080-5082)Att>Gtt	p.I1694V	KIAA2026_ENST00000381461.2_Missense_Mutation_p.I1664V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1694								p.I1694V(1)|p.I869V(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTGACAAAATAGGCATAATT	0.428000													11	88					0	0	0.010729	0	0
CST5	1473	broad.mit.edu	37	20	23858166	23858166	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr20:23858166G>T	ENST00000304710.4	-	2	394	c.321C>A	c.(319-321)ttC>ttA	p.F107L		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	107						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	p.F107L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GCTGGTCATTGAAGGGACAGT	0.517000													10	84					1.5842e-08	1.82527e-08	0.001855	1	0
OR2T34	127068	broad.mit.edu	37	1	248737470	248737470	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:248737470C>T	ENST00000328782.2	-	1	610	c.589G>A	c.(589-591)Gtc>Atc	p.V197I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V197I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAGGGAGACGTCAGAGCAG	0.517000													7	246					0	0	0.004482	0	0
FAM47A	158724	broad.mit.edu	37	X	34149208	34149208	+	Silent	SNP	C	C	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:34149208C>A	ENST00000346193.3	-	1	1239	c.1188G>T	c.(1186-1188)gtG>gtT	p.V396V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	396								p.V396V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGAGATGAGACACTTCAGTCT	0.592000													4	54					0.00024832	0.000276104	0.009096	1	0
KLK1	3816	broad.mit.edu	37	19	51323577	51323577	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr19:51323577G>A	ENST00000448701.2	-	4	1347	c.23C>T	c.(22-24)aCc>aTc	p.T8I	KLK1_ENST00000301420.2_Missense_Mutation_p.T110I			P06870	KLK1_HUMAN	kallikrein 1	110					proteolysis	nucleus	serine-type endopeptidase activity	p.T110I(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTTGGCGGGTGTGGTTCTC	0.562000													15	91					0	0	0.003163	0	0
MYO9B	4650	broad.mit.edu	37	19	17264843	17264843	+	Silent	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr19:17264843C>G	ENST00000595618.1	+	5	1217	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000594824.1_Silent_p.L355L|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Silent_p.L355L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	355	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.L355L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AATTTCAGCTCAAGCAGCCTG	0.453000													4	69					0	0	0.000602	0	0
CXorf56	63932	broad.mit.edu	37	X	118678319	118678319	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:118678319C>G	ENST00000320339.4	-	4	544	c.273G>C	c.(271-273)aaG>aaC	p.K91N	CXorf56_ENST00000476164.1_Missense_Mutation_p.K140N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K140N|CXorf56_ENST00000536133.1_Missense_Mutation_p.K126N|CXorf56_ENST00000486230.1_Missense_Mutation_p.K140N	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	140							protein binding	p.K140N(1)		cervix(1)|endometrium(2)|lung(7)	10						TAATTACCTTCTTAGGAGGCT	0.383000													18	236					0	0	0.008871	0	0
ACBD5	91452	broad.mit.edu	37	10	27506908	27506908	+	Splice_Site	SNP	C	C	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr10:27506908C>A	ENST00000396271.3	-	7	956		c.e7+1		ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375905.4_Splice_Site|ACBD5_ENST00000375888.1_Splice_Site|ACBD5_ENST00000375901.1_Splice_Site|ACBD5_ENST00000476758.1_Splice_Site	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5						transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.?(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGGGACAATACCTTGGTGAAT	0.373000													4	90					0.00909568	0.00951456	0.009096	1	0
PREX2	80243	broad.mit.edu	37	8	68995474	68995474	+	Splice_Site	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr8:68995474G>C	ENST00000288368.4	+	18	2155		c.e18-1		RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.?(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTCTCTTAGATGGCTGGCA	0.303000													3	94					0	0	0.004672	0	0
TCHH	7062	broad.mit.edu	37	1	152082861	152082861	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:152082861C>T	ENST00000368804.1	-	2	2831	c.2832G>A	c.(2830-2832)ctG>ctA	p.L944L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	944	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.L944L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCTCTCAGCAGCTGCT	0.562000													15	484					0	0	0.004990	0	0
NOS1	4842	broad.mit.edu	37	12	117723102	117723102	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr12:117723102C>T	ENST00000317775.6	-	7	2011	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.G442G	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	442					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.G442G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGTTGAACATCCCGTGGGCCG	0.572000													3	33					0	0	0.004672	0	0
SHARPIN	81858	broad.mit.edu	37	8	145158011	145158011	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr8:145158011G>C	ENST00000398712.2	-	2	755	c.319C>G	c.(319-321)Cag>Gag	p.Q107E	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	107	Self-association (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	p.Q107E(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGCTTCCTGAGGGTTGAGG	0.577000													5	98					0	0	0.000602	0	0
OR10H3	26532	broad.mit.edu	37	19	15852411	15852411	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr19:15852411C>G	ENST00000305892.1	+	1	209	c.209C>G	c.(208-210)tCt>tGt	p.S70C		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S70C(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCTCCATCTCTGAGATTCTG	0.502000													20	230					0	0	0.008871	0	0
BAZ1A	11177	broad.mit.edu	37	14	35227951	35227951	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr14:35227951C>T	ENST00000360310.1	-	25	4912	c.4345G>A	c.(4345-4347)Gat>Aat	p.D1449N	BAZ1A_ENST00000382422.2_Missense_Mutation_p.D1449N|BAZ1A_ENST00000358716.4_Missense_Mutation_p.D1417N	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1449	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.D1449N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAGCTGTCATCATGTCGTACC	0.408000													7	122					0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100684569	100684569	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr7:100684569C>T	ENST00000306151.4	+	3	9936	c.9872C>T	c.(9871-9873)aCa>aTa	p.T3291I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3291	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3291I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCACAACGGTGGCC	0.507000													36	361					0	0	0.003755	0	0
OR10J3	441911	broad.mit.edu	37	1	159284287	159284287	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:159284287G>A	ENST00000332217.5	-	1	162	c.163C>T	c.(163-165)Cat>Tat	p.H55Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H55Y(1)|p.H55D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTGTGAAGATGATGGTCCAGG	0.468000													13	266					0	0	0.003163	0	0
FBN2	2201	broad.mit.edu	37	5	127648361	127648361	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr5:127648361C>T	ENST00000508053.1	-	43	5818	c.4844G>A	c.(4843-4845)gGa>gAa	p.G1615E	FBN2_ENST00000262464.4_Missense_Mutation_p.G1615E			P35556	FBN2_HUMAN	fibrillin 2	1615	TB 6.				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	p.G1615E(2)		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)		ACAGGGGTTTCCCCAGGCCTT	0.502000													26	347					0	0	0.005443	0	0
LRP1B	53353	broad.mit.edu	37	2	141092095	141092095	+	Silent	SNP	G	G	A	rs145423213	by1000genomes	TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:141092095G>A	ENST00000389484.3	-	79	13121	c.12150C>T	c.(12148-12150)tcC>tcT	p.S4050S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4050					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S4050S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCTATATGGGAATGATCCC	0.458000										TSP Lung(27;0.18)			17	121					0	0	0.007413	0	0
SETBP1	26040	broad.mit.edu	37	18	42643129	42643129	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr18:42643129G>C	ENST00000282030.5	+	6	4553	c.4257G>C	c.(4255-4257)aaG>aaC	p.K1419N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1419						nucleus	DNA binding	p.K1419N(1)|p.K1365N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTACACCAAGATCCTGTCCA	0.542000									Schinzel-Giedion syndrome				3	20					0	0	0.004672	0	0
NXPH1	30010	broad.mit.edu	37	7	8790640	8790640	+	Silent	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr7:8790640C>G	ENST00000405863.1	+	3	968	c.57C>G	c.(55-57)gtC>gtG	p.V19V	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	19						extracellular region		p.V19V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GTTTTCAGGTCACATGTGCCA	0.398000													14	101					0	0	0.003163	0	0
RTN4	57142	broad.mit.edu	37	2	55237228	55237228	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:55237228T>C	ENST00000394609.2	-	1	357	c.29A>G	c.(28-30)gAc>gGc	p.D10G	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000337526.6_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000405240.1_Intron|RTN4_ENST00000402434.2_Intron	NM_007008.2	NP_008939.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1003					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.D10G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TATACCCTTGTCCTTCCAATT	0.323000													31	92					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179429186	179429186	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:179429186C>T	ENST00000589042.1	-	326	81897	c.81673G>A	c.(81673-81675)Gta>Ata	p.V27225I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25584I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25584	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCTAATACGTTGGTAAAG	0.383000													4	15					0	0	0.009096	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597768	47597768	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr19:47597768C>T	ENST00000253048.5	-	3	296	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	87							nucleic acid binding|zinc ion binding	p.G87R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGCTTCTCCCCCTTTTCTTTC	0.522000													23	246					0	0	0.012319	0	0
ZGPAT	84619	broad.mit.edu	37	20	62365055	62365055	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr20:62365055G>C	ENST00000328969.5	+	4	962	c.835G>C	c.(835-837)Gac>Cac	p.D279H	ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D279H|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D279H|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D279H|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D279H	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	279					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D279H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTCCGACTCAGACAGCGACGG	0.652000													7	123					0	0	0.003080	0	0
FMOD	2331	broad.mit.edu	37	1	203317286	203317286	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:203317286T>A	ENST00000354955.4	-	2	576	c.113A>T	c.(112-114)tAc>tTc	p.Y38F	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	38					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		p.Y38F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGATCGTAGTAGGTGGACTG	0.592000													9	96					0	0	0.006214	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61957768	61957768	+	Silent	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:61957768G>A	ENST00000306238.3	+	1	81	c.12G>A	c.(10-12)tcG>tcA	p.S4S		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	4						extracellular space	binding	p.S4S(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TGAGGCTGTCGGTGTGTCTCC	0.587000													3	34					0	0	0.004672	0	0
STK40	83931	broad.mit.edu	37	1	36826829	36826829	+	Silent	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:36826829G>A	ENST00000359297.2	-	1	112	c.105C>T	c.(103-105)ttC>ttT	p.F35F	STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Silent_p.F35F|STK40_ENST00000373130.3_Silent_p.F35F|STK40_ENST00000373132.3_Silent_p.F35F			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	35	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.F35F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TACCAAGGATGAATGGTCCAG	0.547000													11	81					0	0	0.008291	0	0
ADAD2	161931	broad.mit.edu	37	16	84229882	84229882	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr16:84229882A>C	ENST00000268624.3	+	9	1771	c.1678A>C	c.(1678-1680)Acc>Ccc	p.T560P	RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.T478P|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	478	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TTCCGAACCCACCCCTGACAC	0.687000													6	86					0	0	0.004007	0	0
CYYR1	116159	broad.mit.edu	37	21	27945234	27945234	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr21:27945234C>T	ENST00000299340.4	-	1	369	c.26G>A	c.(25-27)cGt>cAt	p.R9H	CYYR1_ENST00000435845.2_Missense_Mutation_p.R117H|CYYR1_ENST00000400043.3_Missense_Mutation_p.R9H	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	9						integral to membrane		p.R9H(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GACCCCTGGACGCACGGGTAG	0.662000													4	36					0	0	0.000602	0	0
RS1	6247	broad.mit.edu	37	X	18660249	18660249	+	Missense_Mutation	SNP	A	A	T	rs61753172		TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:18660249A>T	ENST00000379984.3	-	6	590	c.550T>A	c.(550-552)Tcc>Acc	p.S184T	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	184	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		p.S184T(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGAACCGTGGAGGTGCGGTCC	0.587000													5	106					0	0	0.001168	0	0
MC1R	4157	broad.mit.edu	37	16	89986023	89986023	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr16:89986023C>T	ENST00000555427.1	+	3	2660	c.357C>T	c.(355-357)gtC>gtT	p.V119V	TUBB3_ENST00000556922.1_Silent_p.V119V|MC1R_ENST00000555147.1_Silent_p.V119V					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)									p.V119V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGGACAATGTCATTGACGTGA	0.642000									Melanoma, Familial Clustering of				5	51					0	0	0.001168	0	0
PRB4	5545	broad.mit.edu	37	12	11461628	11461628	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr12:11461628C>T	ENST00000279575.1	-	3	322	c.289G>A	c.(289-291)Gga>Aga	p.G97R	PRB4_ENST00000535904.1_Missense_Mutation_p.G97R|PRB4_ENST00000445719.2_Missense_Mutation_p.G97R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	118	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.G97R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCTGGCTTTCCTGGATGAGGT	0.602000										HNSCC(22;0.051)			85	378					0	0	0.014410	0	0
KRBA1	84626	broad.mit.edu	37	7	149419892	149419892	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr7:149419892G>A	ENST00000255992.10	+	7	1016	c.617G>A	c.(616-618)aGc>aAc	p.S206N	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.S206N|KRBA1_ENST00000485033.2_Missense_Mutation_p.S206N	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	206								p.S206N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGGAACAGCCCCTTGCAA	0.622000													3	74					0	0	0.004672	0	0
LRFN5	145581	broad.mit.edu	37	14	42360699	42360699	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr14:42360699C>G	ENST00000298119.4	+	4	2821	c.1632C>G	c.(1630-1632)ttC>ttG	p.F544L	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	544				F -> L (in Ref. 1; BAG53340).		integral to membrane		p.F544L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTGGTATTCATCATTATTC	0.403000										HNSCC(30;0.082)			11	275					0	0	0.010729	0	0
LDB2	9079	broad.mit.edu	37	4	16597424	16597424	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr4:16597424G>T	ENST00000502640.1	-	3	458	c.310C>A	c.(310-312)Ctc>Atc	p.L104I	LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000304523.5_Missense_Mutation_p.L104I|LDB2_ENST00000441778.2_Missense_Mutation_p.L104I|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.L104I			O43679	LDB2_HUMAN	LIM domain binding 2	104							LIM domain binding|transcription cofactor activity	p.L104I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GAGTGTTTGAGAATGTAATAC	0.507000													4	56					0.00909568	0.00951456	0.009096	1	0
PAX1	5075	broad.mit.edu	37	20	21689309	21689309	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr20:21689309G>T	ENST00000398485.2	+	3	1084	c.1030G>T	c.(1030-1032)Gcc>Tcc	p.A344S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A320S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	344					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.A250S(1)|p.A344S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGAGAAACCTGCCTTAGAGGC	0.572000													11	38					3.07112e-06	3.46317e-06	0.010729	1	0
KRT27	342574	broad.mit.edu	37	17	38935859	38935859	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:38935859C>T	ENST00000301656.3	-	5	907	c.867G>A	c.(865-867)caG>caA	p.Q289Q		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	289	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.Q289Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CGTCAGAGATCTGCTGCTGCA	0.607000													4	33					0	0	0.009096	0	0
OTOP3	347741	broad.mit.edu	37	17	72942967	72942967	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:72942967C>T	ENST00000328801.4	+	6	1017	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	339						integral to membrane|intracellular	zinc ion binding	p.F339F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGCCATCTTCGGGCCGCTGC	0.637000													18	138					0	0	0.007413	0	0
ZNF652	22834	broad.mit.edu	37	17	47388720	47388720	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:47388720A>C	ENST00000362063.2	-	5	1581	c.1263T>G	c.(1261-1263)gaT>gaG	p.D421E	ZNF652_ENST00000430262.2_Missense_Mutation_p.D421E	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.D421E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCATGTTGAAATCCTTGCCAC	0.433000													47	142					0	0	0.014410	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364598	30364598	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr16:30364598C>T	ENST00000305596.3	-	6	994	c.819G>A	c.(817-819)tcG>tcA	p.S273S	CD2BP2_ENST00000569466.1_Silent_p.S273S	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	273					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	p.S273S(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CATCTCCCCGCGACTCTGCTT	0.567000													11	70					0	0	0.008291	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716664	142716664	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:142716664T>C	ENST00000381779.4	-	2	2486	c.2261A>G	c.(2260-2262)gAt>gGt	p.D754G	SLITRK4_ENST00000338017.4_Missense_Mutation_p.D754G|SLITRK4_ENST00000356928.1_Missense_Mutation_p.D754G	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	754						integral to membrane		p.D754G(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CACATTGGAATCCCTGCTAGG	0.393000													74	201					0	0	0.014410	0	0
C18orf8	29919	broad.mit.edu	37	18	21086937	21086937	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr18:21086937G>A	ENST00000269221.3	+	3	293	c.183G>A	c.(181-183)atG>atA	p.M61I	C18orf8_ENST00000590868.1_Missense_Mutation_p.M61I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	61								p.M61I(2)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTTAAAGAATGGATGACAAAG	0.333000													37	106					0	0	0.005524	0	0
C2orf16	84226	broad.mit.edu	37	2	27802858	27802858	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:27802858C>T	ENST00000408964.2	+	1	3470	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1140								p.S1140L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGACCACTTCGGGGCCTTAT	0.488000													9	146					0	0	0.006214	0	0
ITIH6	347365	broad.mit.edu	37	X	54823428	54823428	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:54823428T>G	ENST00000218436.6	-	2	233	c.204A>C	c.(202-204)gaA>gaC	p.E68D		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	68	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.E68D(1)									CAAAGATGGCTTCATGGGCTT	0.448000													4	159					0	0	0.009096	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	25					0	0	0.000602	0	0
RRP15	51018	broad.mit.edu	37	1	218504419	218504419	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:218504419G>A	ENST00000366932.3	+	5	865	c.835G>A	c.(835-837)Gac>Aac	p.D279N		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	279						mitochondrion|nucleolus	protein binding	p.D279N(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		ATCTGCAAGTGACTCTGATAC	0.393000													5	91					0	0	0.001168	0	0
SLC44A3	126969	broad.mit.edu	37	1	95357975	95357975	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:95357975G>C	ENST00000271227.6	+	14	1861	c.1759G>C	c.(1759-1761)Gaa>Caa	p.E587Q	SLC44A3_ENST00000527077.1_Missense_Mutation_p.E519Q|SLC44A3_ENST00000532427.1_Missense_Mutation_p.E507Q|SLC44A3_ENST00000529450.1_Missense_Mutation_p.E554Q|SLC44A3_ENST00000467909.1_Missense_Mutation_p.E539Q|SLC44A3_ENST00000446120.2_Missense_Mutation_p.E551Q	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	587						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.E587Q(1)|p.E539Q(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATCTGTGTTTGAAACTGTGCT	0.413000													16	123					0	0	0.003163	0	0
RBM7	10179	broad.mit.edu	37	11	114272522	114272522	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:114272522A>G	ENST00000541475.1	+	2	264	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	RP11-212D19.4_ENST00000544347.1_Silent_p.Q63Q|RBM7_ENST00000545678.1_Intron|RBM7_ENST00000544582.1_Missense_Mutation_p.M67V|RBM7_ENST00000540163.1_Missense_Mutation_p.M67V|RBM7_ENST00000375490.5_Missense_Mutation_p.M67V			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	67	RRM.				meiosis		nucleotide binding|protein binding|RNA binding	p.M67V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		TCCTTATGCAATGAATCTACT	0.383000													8	80					0	0	0.003080	0	0
ATHL1	80162	broad.mit.edu	37	11	293450	293450	+	Silent	SNP	A	A	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:293450A>G	ENST00000409548.2	+	9	1543	c.1428A>G	c.(1426-1428)gtA>gtG	p.V476V	ATHL1_ENST00000409479.1_Silent_p.V503V|ATHL1_ENST00000409655.1_Intron	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	476					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	p.V476V(1)|p.V299V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGATCAAGGTACCCTTTGACG	0.632000													3	35					0	0	0.004672	0	0
WNK1	65125	broad.mit.edu	37	12	970206	970206	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr12:970206G>C	ENST00000537687.1	+	7	2291	c.1648G>C	c.(1648-1650)Gat>Cat	p.D550H	WNK1_ENST00000315939.6_Missense_Mutation_p.D550H|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.D143H|WNK1_ENST00000535572.1_Missense_Mutation_p.D550H|WNK1_ENST00000530271.2_Missense_Mutation_p.D550H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	550					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.D550H(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGTGAAGGTGATCACAAGAC	0.438000													21	293					0	0	0.003330	0	0
SSPO	23145	broad.mit.edu	37	7	149523250	149523250	+	RNA	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr7:149523250C>T	ENST00000378016.2	+	0	14336							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.P167S(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTCGGCCCCCTGTGGTGGG	0.642000													12	58					0	0	0.010729	0	0
GPAA1	8733	broad.mit.edu	37	8	145140569	145140569	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr8:145140569C>T	ENST00000355091.4	+	11	1666	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	GPAA1_ENST00000361036.6_Silent_p.L455L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	515					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	p.L515L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATCGCCCTCACCAACTTCT	0.612000													6	65					0	0	0.001168	0	0
ASPM	259266	broad.mit.edu	37	1	197111590	197111590	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:197111590C>G	ENST00000367409.4	-	3	2048	c.1792G>C	c.(1792-1794)Gaa>Caa	p.E598Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E598Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	598					mitosis	cytoplasm|nucleus	calmodulin binding	p.E598Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTGATTTCTCGCACTTCT	0.398000													19	385					0	0	0.002780	0	0
OBSCN	84033	broad.mit.edu	37	1	228492141	228492141	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:228492141A>G	ENST00000570156.2	+	53	14214	c.14140A>G	c.(14140-14142)Aga>Gga	p.R4714G	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1404G|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3757	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4568G(1)|p.R4469G(1)|p.R4339G(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGGGGACAGACACAGCCT	0.632000													8	154					0	0	0.003080	0	0
EVPL	2125	broad.mit.edu	37	17	74004735	74004735	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:74004735C>G	ENST00000301607.3	-	22	4804	c.4551G>C	c.(4549-4551)aaG>aaC	p.K1517N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1539N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1517	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.K1517N(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTAGATGGTCTTCTCCTGCG	0.602000													6	111					0	0	0.001984	0	0
VPS13B	157680	broad.mit.edu	37	8	100866417	100866417	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr8:100866417C>T	ENST00000358544.2	+	56	10986	c.10875C>T	c.(10873-10875)ttC>ttT	p.F3625F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.F3600F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3625					protein transport			p.F3625F(1)|p.F3600F(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GACCCATCTTCACCACTGCGA	0.537000													8	36					0	0	0.010729	0	0
DLEC1	9940	broad.mit.edu	37	3	38136442	38136442	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr3:38136442C>T	ENST00000308059.6	+	13	2013	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	DLEC1_ENST00000346219.3_Silent_p.F664F|DLEC1_ENST00000452631.2_Silent_p.F664F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	664					negative regulation of cell proliferation	cytoplasm		p.F664F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGAAACCTTCAGCATGGACA	0.582000													6	36					0	0	0.001168	0	0
IKBKE	9641	broad.mit.edu	37	1	206649522	206649522	+	Splice_Site	SNP	A	A	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:206649522A>G	ENST00000367120.3	+	6	731		c.e6-1		IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Splice_Site	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon						DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTCTGTCCCCAGTGGCCGGCA	0.617000													20	18					0	0	0.010504	0	0
CENPF	1063	broad.mit.edu	37	1	214813604	214813604	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:214813604G>C	ENST00000366955.3	+	12	2091	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	641					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.Q641H(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAACTTGCAGAGTAAAATTA	0.338000													5	91					0	0	0.000602	0	0
ARAF	369	broad.mit.edu	37	X	47430737	47430737	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:47430737G>C	ENST00000377045.4	+	16	1896	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	568	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.E568Q(1)|p.E568*(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCCACAATTGAGCTGCTGCA	0.632000													3	42					0	0	0.009096	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891579	62891579	+	Silent	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr20:62891579G>A	ENST00000308824.6	+	2	388	c.261G>A	c.(259-261)ctG>ctA	p.L87L	PCMTD2_ENST00000369758.3_Silent_p.L87L|PCMTD2_ENST00000299468.7_Silent_p.L87L	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	87						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.L87L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTGAACCTGGGCAGTGGCA	0.537000													12	134					0	0	0.001855	0	0
PCM1	5108	broad.mit.edu	37	8	17804748	17804748	+	Silent	SNP	A	A	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr8:17804748A>G	ENST00000325083.8	+	7	1276	c.837A>G	c.(835-837)caA>caG	p.Q279Q	PCM1_ENST00000519253.1_Silent_p.Q279Q|PCM1_ENST00000518537.1_Silent_p.Q318Q|PCM1_ENST00000524226.1_Silent_p.Q279Q	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	279					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.Q279Q(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGAAGAAACAACATGATTTAT	0.403000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								11	61					0	0	0.008291	0	0
PGBD2	267002	broad.mit.edu	37	1	249211155	249211155	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:249211155G>C	ENST00000539153.1	+	4	618	c.363G>C	c.(361-363)tgG>tgC	p.W121C	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.W124C			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	124								p.W124C(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTGGCAGTTGGACTGCATCAG	0.458000													6	123					0	0	0.001168	0	0
CD226	10666	broad.mit.edu	37	18	67531647	67531647	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr18:67531647G>C	ENST00000280200.4	-	7	1182	c.914C>G	c.(913-915)tCt>tGt	p.S305C	CD226_ENST00000581982.1_Missense_Mutation_p.S150C|CD226_ENST00000577287.1_Missense_Mutation_p.S150C|CD226_ENST00000582621.1_Missense_Mutation_p.S305C	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	305					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.S305C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TTGACTGGTAGAGATGGGACT	0.383000													4	113					0	0	0.009096	0	0
C17orf70	80233	broad.mit.edu	37	17	79517327	79517327	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:79517327C>A	ENST00000537152.1	-	3	1265	c.740G>T	c.(739-741)aGc>aTc	p.S247I	C17orf70_ENST00000327787.8_Missense_Mutation_p.S398I	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	398					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.S247I(1)|p.S398I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GATGTTCAGGCTGGCTGGGCA	0.632000													10	155					0.00136819	0.0015003	0.013537	1	0
MAGEA8	4107	broad.mit.edu	37	X	149013830	149013830	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chrX:149013830C>T	ENST00000535454.1	+	4	1333	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	MAGEA8_ENST00000286482.1_Missense_Mutation_p.R262C|MAGEA8_ENST00000542674.1_Missense_Mutation_p.R262C	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	262	MAGE.							p.R262C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGTACCGCCAGGCGCC	0.582000													15	181					0	0	0.003163	0	0
GPR61	83873	broad.mit.edu	37	1	110086231	110086231	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:110086231C>T	ENST00000527748.1	+	2	1270	c.587C>T	c.(586-588)tCa>tTa	p.S196L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	196						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S196L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGGCTGTTCACTCCAGTGG	0.577000													5	61					0	0	0.000602	0	0
AHNAK	79026	broad.mit.edu	37	11	62284242	62284242	+	Silent	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:62284242G>A	ENST00000378024.4	-	5	17921	c.17647C>T	c.(17647-17649)Ctg>Ttg	p.L5883L	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5883					nervous system development	nucleus	protein binding	p.L5883L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAAACTGACAGCTCCACCTCG	0.468000													45	180					0	0	0.014410	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036591	60036591	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr18:60036591G>A	ENST00000586569.1	+	9	1479	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	481					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.E481K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTTCCCCCTGAAGAAGAAGC	0.662000													9	69					0	0	0.008291	0	0
DNPEP	23549	broad.mit.edu	37	2	220239731	220239731	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:220239731C>T	ENST00000273075.4	-	14	1473	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.R343Q|DNPEP_ENST00000523282.1_Missense_Mutation_p.R426Q	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	408					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.R418Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GGTGTCATTCCGGACCATGAG	0.572000													3	43					0	0	0.004672	0	0
LAMB3	3914	broad.mit.edu	37	1	209789861	209789861	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:209789861C>T	ENST00000391911.1	-	21	3726	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	LAMB3_ENST00000367030.3_Missense_Mutation_p.E1113K|LAMB3_ENST00000356082.4_Missense_Mutation_p.E1113K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1113	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.E1113K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AACAGCTCCTCTGCCTCTGTC	0.522000													17	261					0	0	0.006122	0	0
TNS1	7145	broad.mit.edu	37	2	218712545	218712545	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:218712545C>T	ENST00000171887.4	-	17	2772	c.2320G>A	c.(2320-2322)Gga>Aga	p.G774R	TNS1_ENST00000419504.1_Missense_Mutation_p.G774R|TNS1_ENST00000430930.1_Missense_Mutation_p.G774R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	774						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.G774R(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCAGGGGTTCCCAACGAATGC	0.597000													7	36					0	0	0.001984	0	0
SLFN13	146857	broad.mit.edu	37	17	33770904	33770904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:33770904G>A	ENST00000285013.6	-	4	1377	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SLFN13_ENST00000534689.1_Nonsense_Mutation_p.Q50*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.Q50*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.Q368*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.Q368*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.Q368*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	368						intracellular	ATP binding	p.Q368*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGACTCAACTGAGACTCAAAG	0.388000													8	62					0	0	0.004482	0	0
TBXAS1	6916	broad.mit.edu	37	7	139575437	139575437	+	Splice_Site	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr7:139575437G>A	ENST00000263552.6	+	7	777		c.e7+1		TBXAS1_ENST00000458722.1_Splice_Site|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000336425.5_Splice_Site|TBXAS1_ENST00000448866.1_Splice_Site|TBXAS1_ENST00000416849.2_Splice_Site|TBXAS1_ENST00000539806.1_Splice_Site|TBXAS1_ENST00000411653.1_Splice_Site|TBXAS1_ENST00000414508.2_Splice_Site|TBXAS1_ENST00000455353.1_Splice_Site|TBXAS1_ENST00000425687.1_Splice_Site|TBXAS1_ENST00000436047.2_Splice_Site	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)						hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	p.?(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTCTGTGTGGGTAAGAAGGAA	0.353000													12	80					0	0	0.013537	0	0
USP48	84196	broad.mit.edu	37	1	22033296	22033296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:22033296G>A	ENST00000308271.9	-	16	2677	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	USP48_ENST00000374732.3_Nonsense_Mutation_p.Q215*|USP48_ENST00000529637.1_Nonsense_Mutation_p.Q689*|USP48_ENST00000400301.1_Nonsense_Mutation_p.Q677*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	677	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q677*(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGAAAGTACTGCTGCAGTTTG	0.398000													11	89					0	0	0.013537	0	0
EPC1	80314	broad.mit.edu	37	10	32561036	32561036	+	Silent	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr10:32561036C>T	ENST00000319778.6	-	12	2225	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	EPC1_ENST00000263062.8_Silent_p.V664V|EPC1_ENST00000375110.2_Silent_p.V591V	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	664					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.V664V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTTCTGATGTCACCAAAGCAG	0.398000													10	64					0	0	0.008291	0	0
MLLT4	4301	broad.mit.edu	37	6	168344625	168344625	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr6:168344625G>A	ENST00000366806.2	+	26	3365	c.3223G>A	c.(3223-3225)Gca>Aca	p.A1075T	MLLT4_ENST00000392112.1_Missense_Mutation_p.A1058T|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.A1082T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A1075T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A1075T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A1074T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A1075T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1075	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.A1075T(1)|p.A1059T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCTAGGGCGGCAGAACTCAT	0.478000			T	MLL	AL								3	65					0	0	0.001168	0	0
SCN10A	6336	broad.mit.edu	37	3	38760174	38760174	+	Silent	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr3:38760174G>A	ENST00000449082.2	-	20	3650	c.3651C>T	c.(3649-3651)gcC>gcT	p.A1217A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1217					sensory perception	voltage-gated sodium channel complex		p.A1217A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCAGCACCAGGCATTGGTGA	0.522000													9	61					0	0	0.006214	0	0
NBAS	51594	broad.mit.edu	37	2	15629148	15629148	+	Splice_Site	SNP	T	T	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr2:15629148T>A	ENST00000281513.5	-	12	980		c.e12-2		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence									p.?(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATTCCATCCTAAATAAGAAT	0.408000													7	57					0	0	0.004482	0	0
SENP5	205564	broad.mit.edu	37	3	196612594	196612594	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr3:196612594G>C	ENST00000323460.5	+	2	791	c.542G>C	c.(541-543)gGc>gCc	p.G181A	SENP5_ENST00000445299.2_Missense_Mutation_p.G181A|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	181					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	p.G181A(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GGTGAGAGTGGCACGATTGTG	0.532000													4	26					0	0	0.009096	0	0
MYH6	4624	broad.mit.edu	37	14	23861783	23861783	+	Silent	SNP	C	C	G			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr14:23861783C>G	ENST00000405093.3	-	25	3400	c.3330G>C	c.(3328-3330)ctG>ctC	p.L1110L	MYH6_ENST00000356287.3_Silent_p.L1110L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1110					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1110L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTTTTCCTTCAGTTTCTTCT	0.488000													19	202					0	0	0.010504	0	0
KRT36	8689	broad.mit.edu	37	17	39645783	39645783	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr17:39645783G>T	ENST00000393986.2	-	2	396	c.184C>A	c.(184-186)Cgt>Agt	p.R62S	KRT36_ENST00000328119.6_Missense_Mutation_p.R112S			O76013	KRT36_HUMAN	keratin 36	112	Head.					intermediate filament	protein binding|structural constituent of epidermis	p.R112S(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCCAGCTGACGCACCTTCTCC	0.602000													5	119					0.00307968	0.00333108	0.003080	1	0
GRSF1	2926	broad.mit.edu	37	4	71698055	71698055	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr4:71698055G>C	ENST00000254799.6	-	4	900	c.783C>G	c.(781-783)tgC>tgG	p.C261W	GRSF1_ENST00000439371.1_Missense_Mutation_p.C99W|GRSF1_ENST00000545193.1_Missense_Mutation_p.C143W|GRSF1_ENST00000502323.1_Missense_Mutation_p.C99W|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	261	RRM 2.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.C261W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			CTTTCTCATTGCAACTATAAG	0.398000													3	71					0	0	0.004672	0	0
SMYD2	56950	broad.mit.edu	37	1	214510074	214510074	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr1:214510074G>A	ENST00000366957.5	+	12	1271	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	SMYD2_ENST00000415093.2_3'UTR|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	417					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	p.G417S(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AGTAGCTCACGGCAAAGATCA	0.403000													13	145					0	0	0.003163	0	0
PDE3B	5140	broad.mit.edu	37	11	14880641	14880641	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr11:14880641C>T	ENST00000282096.4	+	13	2926	c.2573C>T	c.(2572-2574)gCt>gTt	p.A858V	PDE3B_ENST00000455098.2_Missense_Mutation_p.A807V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	858	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.A858V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGCGTCAGCTTGGAATCTA	0.358000													15	113					0	0	0.008871	0	0
KIAA1109	84162	broad.mit.edu	37	4	123268929	123268929	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr4:123268929G>A	ENST00000264501.4	+	76	13497	c.13124G>A	c.(13123-13125)cGa>cAa	p.R4375Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4375Q			Q2LD37	K1109_HUMAN	KIAA1109	4375					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.R4375Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCAGTTCCTCGAAGAGGTAAC	0.413000													5	83					0	0	0.000602	0	0
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													4	3	---	---	---	---					
RBM12B	389677	broad.mit.edu	37	8	94746054	94746054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr8:94746054delG	ENST00000399300.2	-	3	2798	c.2585delC	c.(2584-2586)ctfs	p.P862fs	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.P742fs|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	862							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAAATTGTCAGGAAGTCTAGG	0.522													19	158	---	---	---	---					
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	RNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs36211516	by1000genomes	TCGA-50-5935-01A-11D-1753-08	TCGA-50-5935-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9570cd02-3339-4805-855a-74ebe429df96	cdef3797-3c5d-461f-92c8-1392cdd1781d	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448													3	5	---	---	---	---