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
ZNF547	284306	broad.mit.edu	37	19	57888495	57888495	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:57888495G>A	ENST00000282282.3	+	4	301		c.e4-1		AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATTCTTACAGGTTGTTGCCA	0.493000													36	26					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014785	53014785	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:53014785C>G	ENST00000421239.2	+	6	1395	c.1151C>G	c.(1150-1152)tCa>tGa	p.S384*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGTCAAAATTCAACCCTTGTA	0.378000													52	92					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42863318	42863318	+	Silent	SNP	G	G	A	rs139648725	byFrequency	TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:42863318G>A	ENST00000334370.4	+	30	5846	c.5211G>A	c.(5209-5211)tcG>tcA	p.S1737S	MEGF8_ENST00000251268.6_Silent_p.S1804S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1804						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGGGCGCTCGGACCCTGACG	0.652000													4	18					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8242634	8242634	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:8242634G>A	ENST00000539824.1	+	18	4109	c.3735G>A	c.(3733-3735)ctG>ctA	p.L1245L	SH3TC1_ENST00000245105.3_Silent_p.L1321L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1321							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGCCTCCTCTGCCACTCTGCG	0.632000													19	31					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671790	176671790	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:176671790C>A	ENST00000367662.3	+	9	4448	c.3284C>A	c.(3283-3285)gCt>gAt	p.A1095D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1095					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTAGCTGAAGCTGGAGGAGAA	0.502000													19	40					2.94398e-08	3.29033e-08	1	1	0
COA6	388753	broad.mit.edu	37	1	234509333	234509333	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:234509333C>G	ENST00000366615.4	+	1	132	c.121C>G	c.(121-123)Cgg>Ggg	p.R41G	RP5-827C21.4_ENST00000451795.1_RNA	NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		TGGCAGGACTCGGCACCGCGC	0.657000													5	27					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723741	142723741	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:142723741A>C	ENST00000350513.2	-	1	541	c.479T>G	c.(478-480)tTt>tGt	p.F160C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGTAAACTGAAATGTGGCATA	0.408000													40	63					0	0	1	0	0
SUV39H1	6839	broad.mit.edu	37	X	48558638	48558638	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:48558638C>A	ENST00000453214.2	+	3	349	c.134C>A	c.(133-135)cCg>cAg	p.P45Q	SUV39H1_ENST00000337852.6_Silent_p.R119R|SUV39H1_ENST00000376687.3_Silent_p.R108R|AF196970.3_ENST00000416061.1_RNA			O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	0	Chromo.|Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AAAGACCCCCCGGCACCTGGA	0.627000													3	2					0.004672	0.00478211	1	1	0
COPA	1314	broad.mit.edu	37	1	160264384	160264384	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:160264384C>G	ENST00000241704.7	-	25	2796		c.e25-1		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAAACCCATCTGTAAGGAAA	0.473000													38	86					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157571	32157571	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:32157571C>G	ENST00000375050.4	-	1	392	c.122G>C	c.(121-123)aGc>aCc	p.S41T		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	41							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GACCCCCCCGCTACCCCCACC	0.726000													5	13					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87552510	87552510	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:87552510T>C	ENST00000521271.1	+	8	743	c.581T>C	c.(580-582)tTc>tCc	p.F194S	CPNE3_ENST00000198765.4_Missense_Mutation_p.F194S	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	194	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGAGGCCTTTCAAGATCTCT	0.308000													15	195					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19627440	19627440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:19627440G>C	ENST00000438132.3	+	13	1343	c.1295G>C	c.(1294-1296)gGa>gCa	p.G432A	C16orf62_ENST00000251143.5_Missense_Mutation_p.G343A|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000543152.1_Missense_Mutation_p.G92A|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000448695.1_Missense_Mutation_p.G193A	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	343						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTGCAGGTGGGAATGGAAGTG	0.338000													4	85					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25059384	25059384	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:25059384G>A	ENST00000376707.3	-	3	742	c.708C>T	c.(706-708)gtC>gtT	p.V236V	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ATAGAGAAGGGACTGCTGATT	0.522000													15	191					0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18832198	18832198	+	Silent	SNP	C	C	A	rs144184970		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:18832198C>A	ENST00000268835.2	+	11	1162	c.879C>A	c.(877-879)atC>atA	p.I293I	PRPSAP2_ENST00000419071.2_Silent_p.I253I|PRPSAP2_ENST00000536323.1_Silent_p.I207I|PRPSAP2_ENST00000542013.1_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	293					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATATAAGATCTTTGTGATGG	0.488000													11	126					4.68919e-08	5.2026e-08	1	1	0
ATP6AP1	537	broad.mit.edu	37	X	153660652	153660652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:153660652C>G	ENST00000369762.2	+	4	465	c.404C>G	c.(403-405)gCc>gGc	p.A135G	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	135					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCTTCCTGCCGTCGACTGG	0.652000											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	38	2					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99026737	99026737	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:99026737A>T	ENST00000292478.4	-	5	1154	c.904T>A	c.(904-906)Tac>Aac	p.Y302N	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Y351N|PTCD1_ENST00000555673.1_Missense_Mutation_p.Y351N	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAGGGCGTACCGGAAGCCT	0.597000													24	68					0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141441975	141441975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:141441975C>T	ENST00000481508.1	+	3	466	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	SSBP1_ENST00000265304.6_Missense_Mutation_p.R11C|SSBP1_ENST00000465582.1_Missense_Mutation_p.R11C|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.R11C|SSBP1_ENST00000498107.1_Missense_Mutation_p.R11C	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	11					DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TTAGGTACTTCGTCAGTTTGT	0.318000													9	47					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66838229	66838229	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:66838229G>A	ENST00000423207.2	+	15	2519	c.2034G>A	c.(2032-2034)gaG>gaA	p.E678E	PDE4B_ENST00000329654.4_Silent_p.E693E|PDE4B_ENST00000371045.5_Silent_p.E521E|PDE4B_ENST00000480109.2_Silent_p.E460E|PDE4B_ENST00000371049.3_Silent_p.E693E	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	693					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAGGACCTGAGAAGGAGGGAG	0.498000													4	25					0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72875563	72875563	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:72875563G>T	ENST00000379887.4	+	14	1918	c.1604G>T	c.(1603-1605)cGa>cTa	p.R535L	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	535					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TGTGAGAGTCGACGAAGGGTT	0.363000													11	61					1.58986e-06	1.72e-06	1	1	0
NOL12	79159	broad.mit.edu	37	22	38086741	38086741	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:38086741C>A	ENST00000359114.4	+	5	489	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	140						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GAGGCGTCATCCACGGAGAAA	0.622000													5	118					0.00116845	0.00121438	1	1	0
CAAP1	79886	broad.mit.edu	37	9	26842304	26842304	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:26842304C>T	ENST00000333916.5	-	6	1169	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.A216T	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	361																	AATACCTAGGCTGGCTTTTTT	0.348000													8	49					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101627259	101627259	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:101627259C>T	ENST00000310954.6	-	2	693	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	136					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATTTCATAACGCTTCTCAAC	0.333000													3	27					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709310	77709310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:77709310G>T	ENST00000328313.5	+	3	1089	c.868G>T	c.(868-870)Gaa>Taa	p.E290*		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	290					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTCCCTAAAGAAGGGAGGCT	0.577000													12	51					0.000151284	0.000159412	1	1	0
ASAP3	55616	broad.mit.edu	37	1	23782402	23782402	+	Missense_Mutation	SNP	C	C	T	rs138253513		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:23782402C>T	ENST00000336689.3	-	3	364	c.320G>A	c.(319-321)cGc>cAc	p.R107H	ASAP3_ENST00000437606.2_Missense_Mutation_p.R107H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	107					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGCAACCTCGCGGGTGAACAC	0.562000													27	40					0	0	1	0	0
AP3S2	10239	broad.mit.edu	37	15	90431785	90431785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:90431785C>T	ENST00000336418.4	-	3	633	c.241G>A	c.(241-243)Gag>Aag	p.E81K	AP3S2_ENST00000558011.1_Missense_Mutation_p.E81K|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E282K|C15orf38-AP3S2_ENST00000560224.1_5'UTR|AP3S2_ENST00000560940.1_Missense_Mutation_p.E81K	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AGTTCACTCTCTGAGGAATCC	0.448000													5	33					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79770263	79770263	+	Silent	SNP	T	T	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:79770263T>C	ENST00000372371.3	-	12	1745	c.1608A>G	c.(1606-1608)gaA>gaG	p.E536E		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	536					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CAATCAGCGGTTCCCCATTCC	0.458000													7	50					0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:93516176G>A	ENST00000222543.5	-	5	976	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R222C(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328000													14	134					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402568	33402568	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:33402568C>G	ENST00000358763.2	-	2	322	c.80G>C	c.(79-81)cGc>cCc	p.R27P	SYN3_ENST00000332840.5_Missense_Mutation_p.R27P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	27	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTATCTGGGCGTTGCAGGTC	0.592000													43	68					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430791	25430791	+	RNA	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:25430791G>A	ENST00000424208.1	+	0	582				SNORD115-9_ENST00000362912.1_RNA	NR_003305.1																						TCGATGATGAGAACCTTATAT	0.493000													18	194					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466877	56466877	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:56466877A>G	ENST00000291971.3	+	3	1524	c.1453A>G	c.(1453-1455)Acc>Gcc	p.T485A	NLRP8_ENST00000590542.1_Missense_Mutation_p.T485A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	485	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACGGGAGTCACCGCCTTCCT	0.498000													12	239					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398113	39398113	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:39398113G>C	ENST00000392079.3	+	5	785	c.687G>C	c.(685-687)ctG>ctC	p.L229L	NFKBIB_ENST00000572515.1_Silent_p.L261L|NFKBIB_ENST00000313582.5_Silent_p.L261L			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	261					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGCTTCTCCTGAGGGCAGGCG	0.692000													54	56					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40845507	40845507	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:40845507C>T	ENST00000264638.4	+	18	3162	c.2945C>T	c.(2944-2946)aCg>aTg	p.T982M	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	982	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCTACTACACGTGTGACTGT	0.587000													11	99					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861706	55861706	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:55861706T>A	ENST00000302124.2	+	1	954	c.923T>A	c.(922-924)cTt>cAt	p.L308H		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CATAGAAAACTTTTTCCATGA	0.353000													9	9					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513490	219513490	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:219513490T>C	ENST00000411696.2	-	5	1920	c.1141A>G	c.(1141-1143)Acc>Gcc	p.T381A	ZNF142_ENST00000449707.1_Missense_Mutation_p.T381A			P52746	ZN142_HUMAN	zinc finger protein 142	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGTTGAAGGTGGCAAAGGGG	0.517000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10363760	10363760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:10363760G>A	ENST00000377093.4	+	21	2670	c.2517G>A	c.(2515-2517)atG>atA	p.M839I	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.M839I|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAAATAACATGAAAGACGAGG	0.403000													3	37					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138329	103138329	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:103138329G>C	ENST00000424685.2	-	55	9047	c.8888C>G	c.(8887-8889)aCc>aGc	p.T2963S	RELN_ENST00000343529.5_Missense_Mutation_p.T2963S|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.T2963S			P78509	RELN_HUMAN	reelin	2963					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGGCAAGAGGTCATGTTGTT	0.488000													14	39					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118978727	118978727	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:118978727C>G	ENST00000336702.3	+	1	635	c.276C>G	c.(274-276)ctC>ctG	p.L92L	DPAGT1_ENST00000409993.2_5'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	92						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TGGCGTCACTCTTCGCCTTCA	0.701000													6	23					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866409	140866409	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140866409G>T	ENST00000306593.1	+	1	1669	c.1669G>T	c.(1669-1671)Gac>Tac	p.D557Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTGCTGGACCTCAATGA	0.572000													26	56					1.66031e-10	1.89393e-10	1	1	0
HNMT	3176	broad.mit.edu	37	2	138759687	138759687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:138759687G>A	ENST00000280097.3	+	4	534	c.352G>A	c.(352-354)Gag>Aag	p.E118K	HNMT_ENST00000410115.1_Missense_Mutation_p.E118K|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	118					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTGGCATAAGGAGACATCATC	0.343000													15	57					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283312	5283312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:5283312C>T	ENST00000546004.1	-	3	775	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	PROKR2_ENST00000217270.3_Missense_Mutation_p.V177I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	177						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACCATCCAGACCAAGGCGATC	0.502000										HNSCC(71;0.22)			35	107					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686043	1686043	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:1686043C>T	ENST00000344463.4	-	10	1439	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	NADK_ENST00000341426.5_Silent_p.E261E|NADK_ENST00000341991.3_Silent_p.E261E|NADK_ENST00000378625.1_Silent_p.E406E|NADK_ENST00000342348.5_Silent_p.E229E			O95544	NADK_HUMAN	NAD kinase	261					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGAGCCGTTCTCACCCAGCC	0.657000													23	29					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936591	74936591	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:74936591C>G	ENST00000569840.2	+	14	2266	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	MGAT5B_ENST00000301618.4_Silent_p.L562L|MGAT5B_ENST00000428789.2_Silent_p.L573L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	564						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGCTCCCTCAACCACGAGT	0.657000													11	71					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134006279	134006279	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:134006279C>A	ENST00000338492.4	+	3	410	c.246C>A	c.(244-246)ggC>ggA	p.G82G	DPYSL4_ENST00000368627.1_Silent_p.G5G|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_Silent_p.G5G	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	82					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTGTCCTGGGCATGACACCGG	0.612000													44	17					1.06522e-23	1.2979e-23	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45817685	45817685	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:45817685C>T	ENST00000397928.1	+	13	2433	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	TRPM2_ENST00000300482.5_Missense_Mutation_p.S663F|TRPM2_ENST00000300481.9_Missense_Mutation_p.S643F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.S663F	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	663						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AAGGAACTGTCCAAGGAGGAG	0.632000													6	41					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043301	56043301	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:56043301G>A	ENST00000313033.2	+	1	273	c.187G>A	c.(187-189)Ggg>Agg	p.G63R		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACCGATCATTGGGGATTTCTG	0.363000													45	36					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75873960	75873960	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:75873960G>T	ENST00000211998.4	+	20	3062	c.2968G>T	c.(2968-2970)Gca>Tca	p.A990S	VCL_ENST00000417648.2_Missense_Mutation_p.A183S|VCL_ENST00000372755.3_Missense_Mutation_p.A922S	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	990	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CATCATTGCAGCAGCCAAGCG	0.557000													40	10					1.30475e-32	1.63228e-32	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32639158	32639158	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:32639158G>A	ENST00000286827.3	-	5	602	c.131C>T	c.(130-132)tCg>tTg	p.S44L	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S44L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	44					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CACCTTCCCCGAGGAAGCGTG	0.627000													5	53					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468521	35468521	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:35468521A>C	ENST00000608209.1	+	2	1536	c.1024A>C	c.(1024-1026)Agc>Cgc	p.S342R	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.S342R	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGTGTGTGGAAGCAGAGCTGG	0.483000													86	74					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	310988	310988	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:310988G>A	ENST00000428720.1	-	6	1261	c.518C>T	c.(517-519)tCa>tTa	p.S173L	SLC6A12_ENST00000397296.2_Missense_Mutation_p.S173L|SLC6A12_ENST00000538272.1_Intron|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S173L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S173L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S173L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	173					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCGGCTCCTGAGTGGTTCAG	0.517000													15	61					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47917614	47917614	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:47917614C>T	ENST00000285116.3	+	6	781	c.570C>T	c.(568-570)acC>acT	p.T190T	SKA1_ENST00000398452.2_Silent_p.T190T|SKA1_ENST00000488454.1_Silent_p.T39T|SKA1_ENST00000417656.2_Silent_p.T144T	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	190					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATTCTGTGACCAGAAATCTCT	0.308000													16	51					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57938114	57938114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr14:57938114C>G	ENST00000216445.3	-	6	986	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	C14orf105_ENST00000534126.1_Missense_Mutation_p.E283Q|C14orf105_ENST00000422976.2_Missense_Mutation_p.E324Q	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	284										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GGGATTCTCTCTGTCCTGGTC	0.443000													17	35					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723365	21723365	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:21723365C>T	ENST00000399496.3	+	3	352	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	CABYR_ENST00000581397.1_Missense_Mutation_p.H63Y|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.H63Y|CABYR_ENST00000415309.2_Missense_Mutation_p.H63Y|CABYR_ENST00000327201.6_Intron	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	63					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TAAACAATTTCATCAGATTAA	0.274000													6	33					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105198989	105198989	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:105198989C>G	ENST00000258538.3	-	10	1790	c.1663G>C	c.(1663-1665)Gcc>Ccc	p.A555P	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	555						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AAACTTAAGGCTAACAGAGCT	0.438000													100	178					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158925121	158925121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:158925121G>A	ENST00000367097.3	+	13	5783	c.4426G>A	c.(4426-4428)Gag>Aag	p.E1476K	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1476	TUB.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTGTGGAACGAGGCCACCCA	0.647000													3	8					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103055237	103055237	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:103055237C>A	ENST00000262457.2	+	14	2883	c.2698C>A	c.(2698-2700)Ctg>Atg	p.L900M	INVS_ENST00000541287.1_Missense_Mutation_p.L804M|INVS_ENST00000262456.2_Missense_Mutation_p.L730M	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	900					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGAGCTCCGACTGCAGATAAT	0.532000													22	10					4.35082e-09	4.88964e-09	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124911244	124911244	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:124911244C>G	ENST00000356219.3	-	12	1407	c.1252G>C	c.(1252-1254)Gac>Cac	p.D418H	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.D418H|NCOR2_ENST00000405201.1_Missense_Mutation_p.D418H|NCOR2_ENST00000404621.1_Missense_Mutation_p.D417H|NCOR2_ENST00000429285.2_Missense_Mutation_p.D417H	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	418					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTCATGGGGTCGGCCATAAGC	0.582000													26	39					0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636813	152636813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:152636813C>T	ENST00000368784.1	+	2	287	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	78	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACAGGCCCCGTCTCTT	0.682000													81	99					0	0	1	0	0
SCRN3	79634	broad.mit.edu	37	2	175265723	175265723	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:175265723G>T	ENST00000272732.6	+	4	429	c.347G>T	c.(346-348)gGc>gTc	p.G116V	SCRN3_ENST00000409673.3_Missense_Mutation_p.G109V	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	116					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTTAGACTTGGCCTTGAAAGA	0.303000													10	19					7.48243e-07	8.18222e-07	1	1	0
PRR16	51334	broad.mit.edu	37	5	120021828	120021828	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:120021828C>A	ENST00000379551.2	+	3	627	c.270C>A	c.(268-270)atC>atA	p.I90I	PRR16_ENST00000446965.1_Silent_p.I43I|PRR16_ENST00000505123.1_Silent_p.I43I|PRR16_ENST00000407149.2_Silent_p.I113I	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	113								p.I90I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CGTCTGCTATCCTCACGGTCC	0.527000													8	53					5.18039e-06	5.59445e-06	1	1	0
NOM1	64434	broad.mit.edu	37	7	156746840	156746840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:156746840G>A	ENST00000275820.3	+	3	1171	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	386	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCAGCTGGAGGAACTGTACAT	0.512000													5	40					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	871052	871052	+	Silent	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:871052A>G	ENST00000316157.3	-	12	1477	c.1437T>C	c.(1435-1437)cgT>cgC	p.R479R		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	479							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTGGCTCCACACGCCCAGGCC	0.468000													7	161					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491413	62491413	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:62491413C>A	ENST00000301785.5	-	3	916	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.D242Y	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	242	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAGTTTGATCCTCCTCCTCA	0.378000													122	170					5.18985e-55	6.58753e-55	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433738	73433738	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:73433738G>T	ENST00000263666.4	-	10	2093	c.1979C>A	c.(1978-1980)aCc>aAc	p.T660N	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T317N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T377N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T317N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T382N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	660							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCCGTAAGGGGTGGCGCTCTT	0.667000													18	33					9.7654e-05	0.000103438	1	1	0
ZKSCAN8	7745	broad.mit.edu	37	6	28120851	28120851	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:28120851G>C	ENST00000330236.6	+	6	977	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E265Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		GACCAGGAGTGAGAACAGGGA	0.423000													16	34					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76206478	76206478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:76206478C>T	ENST00000308275.3	+	4	500	c.395C>T	c.(394-396)gCa>gTa	p.A132V	FBXO22_ENST00000453211.2_Missense_Mutation_p.A132V|FBXO22_ENST00000540507.1_Missense_Mutation_p.A28V	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	132					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATGGAAACAGCACTTGCCCTT	0.353000													11	61					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676907	100676907	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:100676907T>G	ENST00000306151.4	+	3	2274	c.2210T>G	c.(2209-2211)aTg>aGg	p.M737R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	737	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTGCCAGTATGCCAACCTCA	0.498000													119	132					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506013	44506013	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:44506013C>T	ENST00000255152.2	+	2	1025	c.816C>T	c.(814-816)ttC>ttT	p.F272F	ZSWIM3_ENST00000454862.2_Silent_p.F266F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	272							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCACAGAGTTCAACTCCGATT	0.532000													11	104					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23408853	23408853	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:23408853C>T	ENST00000400181.4	+	20	2543	c.2439C>T	c.(2437-2439)gcC>gcT	p.A813A	KDM1A_ENST00000356634.3_Silent_p.A789A|KDM1A_ENST00000542151.1_Silent_p.A813A|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	789	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCCAGGTGCCCCACAGGTGA	0.463000													15	17					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72159890	72159890	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:72159890C>T	ENST00000537465.1	-	15	2403	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	PMFBP1_ENST00000355636.6_Missense_Mutation_p.D599N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D744N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	749										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGTGTCAGGTCATCCTGGCAG	0.552000													20	111					0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432397	72432397	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:72432397G>A	ENST00000544411.1	+	3	920	c.433G>A	c.(433-435)Gac>Aac	p.D145N	SENP8_ENST00000340912.4_Missense_Mutation_p.D145N|SENP8_ENST00000544171.1_Missense_Mutation_p.D145N|SENP8_ENST00000542035.2_Missense_Mutation_p.D145N	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	145	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CAGAAAAGGAGACAAACTGGC	0.443000													42	33					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2279640	2279640	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:2279640C>T	ENST00000301727.4	+	3	427	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	E4F1_ENST00000565090.1_Silent_p.L127L|E4F1_ENST00000564139.1_Silent_p.L127L	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	127					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GGCGGCCTCTCTGGCAGCAGA	0.622000													16	112					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139638	75139638	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:75139638G>A	ENST00000539798.1	-	2	914	c.915C>T	c.(913-915)atC>atT	p.I305I	KLHL35_ENST00000376292.4_Silent_p.I85I	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	85										lung(2)|stomach(1)	3						CGCAACCGCCGATGACCACGA	0.627000													3	32					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23706103	23706103	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:23706103G>C	ENST00000256797.4	-	17	2358	c.2190C>G	c.(2188-2190)ggC>ggG	p.G730G	ERN2_ENST00000457008.2_Silent_p.G630G	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	682	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCCTTCCGTGCCGGGGATGC	0.647000													10	19					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32207341	32207341	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:32207341G>C	ENST00000492345.1	+	6	1064	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.E166Q|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.E156Q|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.E147Q|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.E156Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.E127Q|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.E127Q|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.E127Q			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	156	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGTGACAATTGAGGAATTCCA	0.328000													7	105					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31917909	31917909	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:31917909C>A	ENST00000456570.1	+	23	3052	c.2997C>A	c.(2995-2997)gcC>gcA	p.A999A	CFB_ENST00000477310.1_Silent_p.A848A|CFB_ENST00000556679.1_Silent_p.A999A|CFB_ENST00000425368.2_Silent_p.A497A			P00751	CFAB_HUMAN	complement factor B	497					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CATGGCAGGCCAAGATCTCAG	0.502000													31	24					3.1745e-13	3.70459e-13	1	1	0
DMTN	2039	broad.mit.edu	37	8	21938666	21938666	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:21938666A>G	ENST00000358242.3	+	15	1559	c.1066A>G	c.(1066-1068)Acc>Gcc	p.T356A	DMTN_ENST00000519907.1_Missense_Mutation_p.T334A|DMTN_ENST00000415253.1_Missense_Mutation_p.T334A|DMTN_ENST00000381470.3_Missense_Mutation_p.T334A|DMTN_ENST00000432128.1_Missense_Mutation_p.T356A|DMTN_ENST00000523782.2_Missense_Mutation_p.T309A|DMTN_ENST00000265800.5_Missense_Mutation_p.T356A|DMTN_ENST00000443491.2_Missense_Mutation_p.T309A|DMTN_ENST00000523266.1_Missense_Mutation_p.T356A|DMTN_ENST00000517600.1_Missense_Mutation_p.T316A					dematin actin binding protein																		CAAGGGGCGAACCAAGCTGCC	0.612000													20	13					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60073664	60073664	+	Missense_Mutation	SNP	C	C	A	rs62000397	byFrequency	TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:60073664C>A	ENST00000355131.3	+	7	804	c.581C>A	c.(580-582)aCc>aAc	p.T194N	MS4A4A_ENST00000337908.4_Missense_Mutation_p.T213N|MS4A4A_ENST00000532114.1_Missense_Mutation_p.T160N|MS4A4A_ENST00000395016.3_Missense_Mutation_p.T194N	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	213						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CTCTGTTGTACCCCTGGTGGG	0.453000													42	39					3.4345e-17	4.1025e-17	1	1	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557671	170557671	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:170557671G>A	ENST00000359744.3	+	4	578	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	64							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						AAGAGAACATGAAATGAAAAG	0.358000													12	99					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235599104	235599104	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:235599104C>G	ENST00000543662.1	+	10	1041	c.935C>G	c.(934-936)tCt>tGt	p.S312C	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S261C|TBCE_ENST00000366601.3_Missense_Mutation_p.S261C			Q15813	TBCE_HUMAN	tubulin folding cofactor E	261					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GATCTTTCCTCTAATCAATTA	0.353000													7	146					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19701739	19701739	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:19701739C>T	ENST00000328041.6	+	17	2087	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	630						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTGAGTTCAACGTGTTCA	0.577000													15	285					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85722828	85722828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:85722828G>A	ENST00000322366.6	-	17	3204	c.2797C>T	c.(2797-2799)Cag>Tag	p.Q933*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.Q933*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	933						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAGAGCCTGAGAGGCTAAT	0.483000													7	49					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867692	7867692	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:7867692C>G	ENST00000264669.5	-	2	641	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	169					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.E169Q(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTGAGGGCTCCTTTTCAAAC	0.433000													33	120					0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77979715	77979715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:77979715G>A	ENST00000237654.4	-	3	764	c.188C>T	c.(187-189)cCa>cTa	p.P63L	CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Missense_Mutation_p.P49L	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	63					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						AAATGTTTCTGGGTAAAGGTT	0.368000													22	55					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134967269	134967269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:134967269C>T	ENST00000398015.3	+	14	2978	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	EPHB1_ENST00000493838.1_Missense_Mutation_p.R431W	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	870	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGCCGGCCCCGGTTTGCGGA	0.587000													26	26					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6243699	6243699	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:6243699G>A	ENST00000265978.4	-	6	1522	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	FAM160A2_ENST00000449352.2_Silent_p.L388L|FAM160A2_ENST00000524416.1_Silent_p.L388L	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	388					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TACGAGCAACGAGGGTGTCGA	0.537000													12	50					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55439686	55439686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:55439686C>G	ENST00000341048.4	-	7	705	c.554G>C	c.(553-555)gGg>gCg	p.G185A	ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000513241.2_Missense_Mutation_p.G156A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGGGTCTGCCCCCTTCTTCAG	0.517000													106	153					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196738395	196738395	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:196738395G>C	ENST00000312428.6	-	39	6410	c.6310C>G	c.(6310-6312)Cct>Gct	p.P2104A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2104	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGTATCGAGGAGTTACTGGA	0.274000													5	65					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21076330	21076330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:21076330C>A	ENST00000375003.2	-	6	2071	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	HP1BP3_ENST00000312239.5_Nonsense_Mutation_p.E343*			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	343	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		ATTGCATATTCCATCAGGCTT	0.483000													4	76					0.00909568	0.00926327	1	1	0
GANAB	23193	broad.mit.edu	37	11	62400085	62400085	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:62400085G>A	ENST00000346178.4	-	10	1029	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	GANAB_ENST00000540933.1_Silent_p.L219L|GANAB_ENST00000534779.1_Silent_p.L224L|GANAB_ENST00000356638.3_Silent_p.L316L	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	316					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CTGCAGCATTGAGCCAGAAGA	0.542000													25	371					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53517884	53517884	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:53517884C>A	ENST00000301466.3	+	15	1606	c.1546C>A	c.(1546-1548)Cga>Aga	p.R516R		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	516					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GGTGACACCTCGATCTTGGTC	0.547000													9	84					9.31168e-06	1.00381e-05	1	1	0
CHRD	8646	broad.mit.edu	37	3	184100206	184100206	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:184100206G>A	ENST00000545352.1	+	0	159				CHRD_ENST00000348986.3_Silent_p.R243R|CHRD_ENST00000450923.1_Silent_p.R243R|CHRD_ENST00000204604.1_Silent_p.R243R|EIF2B5_ENST00000444495.1_Intron			Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGTGCCTCGGTTGTCTCTGC	0.622000													98	92					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35062088	35062088	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:35062088G>A	ENST00000358901.6	-	9	1888	c.993C>T	c.(991-993)ctC>ctT	p.L331L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	331					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGCCATCCATGAGGGTCAACA	0.537000													12	56					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869344	36869344	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:36869344C>A	ENST00000279024.4	-	3	1460	c.1189G>T	c.(1189-1191)Gcc>Tcc	p.A397S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	397										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATCTTGGAGGCAGCTGGCTCT	0.592000													75	148					1.38705e-31	1.72813e-31	1	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49967484	49967484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:49967484G>A	ENST00000293350.4	+	10	1458	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.S267N|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.S269N|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.S381N|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	432							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AGTGTGTGGAGCGAGAGGCTG	0.682000													20	14					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003313	170003313	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:170003313G>A	ENST00000263816.3	-	69	13032	c.12747C>T	c.(12745-12747)ttC>ttT	p.F4249F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4249					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGTCCTCCTTGAAGTCACTCC	0.388000													42	87					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135928	40135928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:40135928G>C	ENST00000278198.2	-	2	3878	c.1915C>G	c.(1915-1917)Caa>Gaa	p.Q639E	LRRC4C_ENST00000527150.1_Missense_Mutation_p.Q639E|LRRC4C_ENST00000530763.1_Missense_Mutation_p.Q639E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.Q639E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	639					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTTTAGATTTGAGTCTCTTGT	0.308000													19	8					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27256995	27256995	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:27256995C>T	ENST00000361042.4	+	9	1451	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	WASF3_ENST00000335327.5_Missense_Mutation_p.S412F			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	412	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GGTCCCGGGTCTTCTCTTTCG	0.687000													7	62					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074239	8074239	+	Silent	SNP	G	G	A	rs34409716		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:8074239G>A	ENST00000377482.5	-	4	643	c.420C>T	c.(418-420)ttC>ttT	p.F140F	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	140					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GGGCACAGGGGAAAAGGGAAG	0.502000													8	88					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29608201	29608201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:29608201C>T	ENST00000318184.5	-	20	2417	c.2418G>A	c.(2416-2418)tgG>tgA	p.W806*	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	806	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGATTGGATCCAGTCCAAGA	0.418000													10	60					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811006	65811006	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:65811006G>C	ENST00000312006.4	-	3	549	c.268C>G	c.(268-270)Cac>Gac	p.H90D	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.H90D	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	90					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GTCAGGTTGTGGCGCTCGGCA	0.672000													4	23					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99452659	99452659	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:99452659G>A	ENST00000376460.1	-	53	5921	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	DOCK9_ENST00000339416.2_Silent_p.I1934I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1948	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCCACCTCGATGGGGTTCA	0.557000													3	40					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155298486	155298486	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:155298486A>T	ENST00000357232.4	-	3	344	c.345T>A	c.(343-345)gaT>gaA	p.D115E	DCHS2_ENST00000339452.1_Missense_Mutation_p.D721E	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGATTTGCCCATCATGAGGGT	0.438000													15	44					0	0	1	0	0
CT45A5	441521	broad.mit.edu	37	X	134947460	134947460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:134947460C>G	ENST00000463085.2	-	4	576	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q	CT45A5_ENST00000370724.3_Missense_Mutation_p.E163Q|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.E163Q			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5											endometrium(1)|large_intestine(2)|lung(6)	9						ATGATGGATTCAAAAAATCGT	0.403000													57	13					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779025	156779025	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:156779025C>T	ENST00000392306.2	-	7	1141	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	SH2D2A_ENST00000368199.3_Silent_p.K324K|SH2D2A_ENST00000368198.3_Silent_p.K306K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	324	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGACCAGCTCTTCCGTAGGA	0.612000													17	122					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201174	24201174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:24201174G>C	ENST00000536471.1	-	3	1192	c.934C>G	c.(934-936)Cac>Gac	p.H312D	CNR2_ENST00000374472.4_Missense_Mutation_p.H312D			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	312					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GCCAGGCAGTGATGGGCAGAG	0.557000													8	67					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89790194	89790194	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:89790194G>A	ENST00000297205.2	+	3	360	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	54					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					CCATGCTGATGAATTTGACTG	0.423000													16	176					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41206590	41206590	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:41206590G>T	ENST00000399959.2	+	16	2650	c.1795G>T	c.(1795-1797)Gcc>Tcc	p.A599S	DDX3X_ENST00000457138.2_Missense_Mutation_p.A583S|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	599	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AGGGTTTGGTGCCAGAGACTA	0.498000										HNSCC(61;0.18)			45	12					4.75955e-12	5.48069e-12	1	1	0
KLK13	26085	broad.mit.edu	37	19	51561905	51561905	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:51561905C>A	ENST00000595793.1	-	4	577	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S	KLK13_ENST00000335422.3_Missense_Mutation_p.A27S|KLK13_ENST00000595547.1_Missense_Mutation_p.A106S	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	179	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGGATGTTGGCACATTGTAGA	0.473000													110	101					8.11351e-46	1.02771e-45	1	1	0
PABPC1L	80336	broad.mit.edu	37	20	43541401	43541401	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:43541401G>A	ENST00000255136.3	+	2	376	c.294G>A	c.(292-294)gtG>gtA	p.V98V	PABPC1L_ENST00000217073.2_Silent_p.V98V|PABPC1L_ENST00000217074.4_Silent_p.V98V|PABPC1L_ENST00000537323.1_Silent_p.V98V	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	98							nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AGTCAGGTGTGGGCAACATCT	0.512000													7	86					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488406	103488406	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:103488406G>A	ENST00000358392.2	-	8	1490	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Silent_p.G340G|COL11A1_ENST00000370096.3_Silent_p.G379G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	379	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATCATATTCGCCTAAATCTC	0.363000													24	51					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948389	119948389	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:119948389G>T	ENST00000307142.4	+	3	1061	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	SYNPO2_ENST00000434046.2_Missense_Mutation_p.D289Y|SYNPO2_ENST00000429713.2_Missense_Mutation_p.D289Y|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	289						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTGATCCTCGACTGCTCTGA	0.557000													9	17					0.00448238	0.00460353	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20544136	20544136	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:20544136C>G	ENST00000504154.1	+	21	2415	c.2163C>G	c.(2161-2163)tgC>tgG	p.C721W	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.C725W|SLIT2_ENST00000503823.1_Missense_Mutation_p.C713W|SLIT2_ENST00000503837.1_Missense_Mutation_p.C717W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	721	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACAATAGTTGCTCCCCACTTT	0.423000													86	162					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158139296	158139296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:158139296G>A	ENST00000313708.6	-	14	1697	c.1415C>T	c.(1414-1416)cCg>cTg	p.P472L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.P441L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	472	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGGTGCTCGGCACGTACCC	0.602000			T	HMGA2	lipoma								13	11					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23403998	23403998	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:23403998A>T	ENST00000216036.4	-	6	975	c.779T>A	c.(778-780)gTg>gAg	p.V260E		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	260							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TTCAGTGATCACTGTGGCGAA	0.587000													8	59					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71062897	71062897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:71062897C>G	ENST00000410009.3	-	1	55	c.10G>C	c.(10-12)Gag>Cag	p.E4Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	4					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GCCTCCTTCTCCACAGTCATC	0.562000													4	11					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25457366	25457366	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:25457366C>T	ENST00000381884.4	-	17	4151	c.3966G>A	c.(3964-3966)cgG>cgA	p.R1322R	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1322					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TAACTCTTATCCGACCGGATC	0.428000													32	146					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47803368	47803368	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:47803368C>T	ENST00000591416.1	-	4	657	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	MBD1_ENST00000424334.2_Splice_Site_p.A102T|MBD1_ENST00000398495.2_Splice_Site_p.A76T|MBD1_ENST00000349085.2_Splice_Site_p.A76T|MBD1_ENST00000382948.5_Splice_Site_p.A76T|MBD1_ENST00000339998.6_Splice_Site_p.A76T|MBD1_ENST00000585672.1_Splice_Site_p.A76T|MBD1_ENST00000353909.3_Splice_Site_p.A76T|MBD1_ENST00000347968.3_Splice_Site_p.A76T|MBD1_ENST00000590208.1_Splice_Site_p.A76T|MBD1_ENST00000457839.2_Splice_Site_p.A76T|MBD1_ENST00000398488.1_Splice_Site_p.A76T|MBD1_ENST00000436910.1_Splice_Site_p.A76T|MBD1_ENST00000588937.1_Splice_Site_p.A76T|MBD1_ENST00000587605.1_Splice_Site_p.A76T|MBD1_ENST00000269468.5_Splice_Site_p.A76T|MBD1_ENST00000398493.1_Splice_Site_p.A76T|MBD1_ENST00000591535.1_Splice_Site_p.A76T|MBD1_ENST00000269471.5_Splice_Site_p.A76T|MBD1_ENST00000585595.1_Splice_Site_p.A76T			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	76					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ACGGGATGGGCCTGGAAAGTA	0.562000													31	23					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386961	121386961	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:121386961C>G	ENST00000393667.3	-	19	9491	c.9381G>C	c.(9379-9381)aaG>aaC	p.K3127N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.K3117N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3117					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GAACTCCATTCTTTTCCTGGG	0.463000													10	92					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156754873	156754873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:156754873C>T	ENST00000275820.3	+	5	1676	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	554	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACGATGTTGGCCCTGAAGAAC	0.448000													4	179					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412884	49412884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49412884C>T	ENST00000418115.1	-	2	523	c.139G>A	c.(139-141)Gag>Aag	p.E47K	RHOA_ENST00000454011.2_Missense_Mutation_p.E47K|RHOA_ENST00000422781.1_Missense_Mutation_p.E47K	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	47					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCATCCACCTCGATATCTGCC	0.433000													38	108					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40999824	40999824	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:40999824G>C	ENST00000244565.3	-	5	1090	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	UNC5CL_ENST00000373164.1_Missense_Mutation_p.I334M|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	334	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCCATGCCAGATGTGGAGAT	0.572000													16	19					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37036535	37036535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:37036535C>G	ENST00000282516.8	+	33	6416	c.5917C>G	c.(5917-5919)Caa>Gaa	p.Q1973E	NIPBL_ENST00000448238.2_Missense_Mutation_p.Q1973E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1973					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCTTGTACTCAACTTGTTGA	0.264000													8	39					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69706135	69706135	+	Silent	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:69706135A>T	ENST00000409085.4	-	20	3004	c.2628T>A	c.(2626-2628)acT>acA	p.T876T	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	876						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCAGAAGGTCAGTAGTAGGGT	0.488000													33	51					0	0	1	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880990	100880990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:100880990C>T	ENST00000341189.4	+	5	1887	c.1021C>T	c.(1021-1023)Caa>Taa	p.Q341*	ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.Q341*|ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.Q341*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	341						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AAAAGAATTTCAAGTGTGTGC	0.318000													17	68					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771126	37771126	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:37771126C>A	ENST00000402918.2	-	3	1234	c.449G>T	c.(448-450)tGc>tTc	p.C150F	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GAGGCTCGGGCACTCGGAGAA	0.647000													36	47					1.30015e-28	1.61325e-28	1	1	0
OR8H3	390152	broad.mit.edu	37	11	55890340	55890340	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:55890340C>A	ENST00000313472.3	+	1	492	c.492C>A	c.(490-492)agC>agA	p.S164R		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTTCCATGAGCAGATTGCATT	0.433000													11	151					0.00136819	0.00141956	1	1	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:55539327G>T	ENST00000220676.1	+	4	3033	c.2885G>T	c.(2884-2886)gGa>gTa	p.G962V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000													6	81					3.59834e-05	3.83823e-05	1	1	0
TRPC4AP	26133	broad.mit.edu	37	20	33637735	33637735	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:33637735C>G	ENST00000252015.2	-	6	680	c.591G>C	c.(589-591)ttG>ttC	p.L197F	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.L197F|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.L158F			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	197	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TACTTGTCATCAATGTAAACA	0.403000													6	145					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101627948	101627948	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:101627948G>C	ENST00000409318.1	-	18	3012	c.2882C>G	c.(2881-2883)tCa>tGa	p.S961*	RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Nonsense_Mutation_p.S946*|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	946					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCTCGATGTTGACAACAGAGG	0.478000													14	89					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24979035	24979035	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:24979035G>T	ENST00000323848.9	+	7	1151	c.836G>T	c.(835-837)cGg>cTg	p.R279L	SRRM1_ENST00000374389.4_Missense_Mutation_p.R279L|SRRM1_ENST00000447431.2_Missense_Mutation_p.R279L|SRRM1_ENST00000537199.1_Missense_Mutation_p.R148L|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	279	Arg-rich.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCACGATCTCGGTCACGCTCC	0.502000													17	21					4.75885e-15	5.60733e-15	1	1	0
CASP3	836	broad.mit.edu	37	4	185550569	185550569	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:185550569C>G	ENST00000308394.4	-	8	953	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q	CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000393588.4_3'UTR|CASP3_ENST00000523916.1_Missense_Mutation_p.E231Q	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	231					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCATAAATTCAAGCTTGTCG	0.418000													9	61					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589935	140589935	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140589935G>T	ENST00000239450.2	+	1	1645	c.1456G>T	c.(1456-1458)Gtc>Ttc	p.V486F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V149F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		486	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCAGGTCAACTACTC	0.652000													33	61					3.86903e-22	4.69535e-22	1	1	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226797	168226797	+	RNA	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:168226797G>A	ENST00000359760.5	-	0	592					NR_027906.1																						CCGCCCATGGGACCCATCGCC	0.692000													13	58					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72948686	72948686	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:72948686T>A	ENST00000262209.4	-	21	2599	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	798						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATAAAATAATTCCTTTTCTGG	0.353000													19	56					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155298485	155298485	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:155298485C>A	ENST00000357232.4	-	3	345	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	DCHS2_ENST00000339452.1_Missense_Mutation_p.G722W	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGATTTGCCCATCATGAGGG	0.438000													16	45					1.67942e-08	1.88045e-08	1	1	0
ZNF431	170959	broad.mit.edu	37	19	21366638	21366638	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:21366638C>G	ENST00000311048.7	+	5	1676	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GGAGAGAAATCTTACAAATGT	0.353000													10	62					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412387	110412387	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:110412387G>A	ENST00000378402.5	+	13	1199	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	365					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAAAAACGCCTGGGTACA	0.438000										HNSCC(38;0.096)			76	238					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537106	37537106	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:37537106C>A	ENST00000432825.2	-	3	1468		c.e3+1		FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_Splice_Site	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10							ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CATGACAGCACCTTGCTATTA	0.458000													30	21					8.16721e-17	9.71754e-17	1	1	0
SGK3	23678	broad.mit.edu	37	8	67743527	67743527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:67743527G>A	ENST00000396596.1	+	8	720	c.506G>A	c.(505-507)gGa>gAa	p.G169E	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.G169E|SGK3_ENST00000520976.1_Missense_Mutation_p.G169E|SGK3_ENST00000345714.4_Missense_Mutation_p.G169E|SGK3_ENST00000522398.1_Missense_Mutation_p.G169E|SGK3_ENST00000521198.2_Missense_Mutation_p.G169E	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	169	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	p.G102A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAGTTATTGGAAAAGGCAGC	0.333000													53	142					0	0	1	0	0
FAM212A	389119	broad.mit.edu	37	3	49842377	49842377	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49842377G>A	ENST00000333323.4	+	2	954	c.821G>A	c.(820-822)cGt>cAt	p.R274H		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	272																	ATGAGCTGTCGTAGCCGCCAG	0.572000													50	113					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45865139	45865139	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:45865139G>C	ENST00000311275.7	-	16	2980	c.2727C>G	c.(2725-2727)gtC>gtG	p.V909V	ZMYND8_ENST00000458360.2_Silent_p.V777V|ZMYND8_ENST00000360911.3_Silent_p.V858V|ZMYND8_ENST00000355972.4_Silent_p.V909V|ZMYND8_ENST00000446994.2_Silent_p.V800V|ZMYND8_ENST00000461685.1_Silent_p.V883V|ZMYND8_ENST00000536340.1_Silent_p.V936V|ZMYND8_ENST00000352431.2_Silent_p.V883V|ZMYND8_ENST00000471951.2_Silent_p.V929V|ZMYND8_ENST00000396281.4_Silent_p.V909V|ZMYND8_ENST00000262975.4_Silent_p.V863V|ZMYND8_ENST00000540497.1_Silent_p.V857V|ZMYND8_ENST00000372023.3_Silent_p.V858V	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	909							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGTCAGCGTTGACTGAGGACA	0.592000													7	129					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763640	102763640	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:102763640G>A	ENST00000370220.1	+	2	3848	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	LZTS2_ENST00000370223.3_Missense_Mutation_p.R262Q			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	262	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGCCAGCCCGAGGGGTCCCT	0.711000													8	36					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32842861	32842861	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:32842861G>A	ENST00000421745.2	+	74	14598	c.14464G>A	c.(14464-14466)Gac>Aac	p.D4822N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4822					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCTGACACTGACGATGCCCC	0.522000													6	24					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750597	167750597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:167750597G>A	ENST00000470487.1	-	9	1576	c.887C>T	c.(886-888)cCt>cTt	p.P296L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P268L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	296					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.P296H(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCTCTTCCAGGAACTGCTTC	0.463000													58	51					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147795908	147795908	+	Silent	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:147795908G>T	ENST00000513335.1	-	8	1036	c.837C>A	c.(835-837)gcC>gcA	p.A279A	TTC29_ENST00000325106.4_Silent_p.A253A|TTC29_ENST00000398886.4_Silent_p.A279A			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	253							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAATTTTGATGGCCTGTTTGT	0.408000													5	14					1	1	1	1	0
C22orf31	25770	broad.mit.edu	37	22	29454843	29454843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:29454843G>A	ENST00000216071.4	-	3	811	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	254										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						ATGGCACCCTGACTGCAAAGA	0.567000													31	119					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157177703	157177703	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:157177703G>T	ENST00000262177.4	+	7	825		c.e7+1		DNAJB6_ENST00000452797.2_Splice_Site|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000429029.2_Splice_Site	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6						intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CTACAAAGAGGTACTGTGGTA	0.408000													26	56					1.66031e-10	1.89393e-10	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144808878	144808878	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:144808878G>A	ENST00000388913.3	-	5	2878	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	918					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCCGGCACGGGGGGCACCGG	0.692000													3	19					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52947576	52947576	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:52947576G>C	ENST00000394752.3	-	15	1920	c.1538C>G	c.(1537-1539)tCa>tGa	p.S513*	SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.S513*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	513					regulation of transcription, DNA-dependent	nucleus		p.S513*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATATGGCCCTGAGAAGCAACG	0.403000													20	48					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70860673	70860673	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:70860673C>A	ENST00000358731.4	+	39	8099	c.7836C>A	c.(7834-7836)ttC>ttA	p.F2612L	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2612					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGAATATTTCTTCAATGATA	0.368000													19	89					8.34094e-07	9.10465e-07	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962424	34962424	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:34962424C>T	ENST00000329357.5	+	1	1512	c.1476C>T	c.(1474-1476)acC>acT	p.T492T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	492										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCAGAACAACCGATCAAGACC	0.463000													42	18					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35052001	35052001	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:35052001A>G	ENST00000360359.3	+	21	3236	c.3098A>G	c.(3097-3099)cAc>cGc	p.H1033R	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1033	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGACCAGCCACCACTATTGC	0.622000													17	26					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582181	180582181	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:180582181C>G	ENST00000328275.1	+	1	239	c.239C>G	c.(238-240)cCa>cGa	p.P80R		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAATGTGCCAAAGATGGCA	0.522000													36	71					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691417	153691417	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:153691417G>A	ENST00000304337.2	-	2	1560	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	247	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CACAGGCAATGATTTTAAACC	0.408000													13	140					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977009	6977009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:6977009G>A	ENST00000278319.5	+	7	1389	c.801G>A	c.(799-801)tgG>tgA	p.W267*	ZNF215_ENST00000529903.1_Nonsense_Mutation_p.W267*|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.W267*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	267					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAGATGCCTGGAAAGGTGAGA	0.398000													9	60					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118530476	118530476	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:118530476C>G	ENST00000336338.5	-	40	5715	c.5650G>C	c.(5650-5652)Gaa>Caa	p.E1884Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1884						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTATCTTTTCTTTCCAGCGT	0.408000													3	48					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436751	16436751	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:16436751T>A	ENST00000380672.4	-	6	1498	c.1441A>T	c.(1441-1443)Agc>Tgc	p.S481C	BNC2_ENST00000380667.2_Missense_Mutation_p.S414C|BNC2_ENST00000380666.2_Missense_Mutation_p.S481C|BNC2_ENST00000545497.1_Missense_Mutation_p.S386C	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CGGAGGGAGCTAAAGACCATG	0.438000													44	59					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591630	86591630	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:86591630C>A	ENST00000370571.2	-	3	755	c.389G>T	c.(388-390)aGa>aTa	p.R130I	COL24A1_ENST00000436319.1_Missense_Mutation_p.R130I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	130	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAATTGCAGTCTATTTTTATT	0.373000													8	55					0.00448238	0.00460353	1	1	0
LGR4	55366	broad.mit.edu	37	11	27389553	27389553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:27389553G>A	ENST00000379214.4	-	18	3160	c.2717C>T	c.(2716-2718)tCt>tTt	p.S906F	LGR4_ENST00000389858.4_Missense_Mutation_p.S882F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	906						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGCATAATCAGAGTGGGCCGA	0.512000													9	52					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59895032	59895032	+	Missense_Mutation	SNP	C	C	T	rs150780889	byFrequency	TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:59895032C>T	ENST00000265036.5	-	10	1365	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	433					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ACTAATTTGACGGCAAAATGA	0.393000													5	54					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106864299	106864299	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:106864299G>A	ENST00000286398.7	+	8	983	c.695G>A	c.(694-696)cGt>cAt	p.R232H	SMC2_ENST00000374787.3_Missense_Mutation_p.R232H|SMC2_ENST00000303219.8_Missense_Mutation_p.R232H|SMC2_ENST00000374793.3_Missense_Mutation_p.R232H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	232					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CATTTGAGTCGTTTATATATT	0.323000													13	74					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34395936	34395936	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:34395936G>C	ENST00000397766.2	+	1	1663	c.1204G>C	c.(1204-1206)Gat>Cat	p.D402H		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	402										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ATTCCACAATGATACTGTGAT	0.433000													8	62					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58131264	58131264	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:58131264C>A	ENST00000547588.1	-	1	765	c.766G>T	c.(766-768)Gtc>Ttc	p.V256F	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	256					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCAGCCCCGACCCCACCAGAG	0.692000													4	13					0.00909568	0.00926327	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42583494	42583494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:42583494G>T	ENST00000600245.1	+	2	1391	c.736G>T	c.(736-738)Gag>Tag	p.E246*	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.E336*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.E246*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGAGTCTCAGGAGCCTGCCTT	0.617000													56	42					9.59449e-18	1.15514e-17	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52433158	52433158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:52433158C>G	ENST00000420323.2	+	76	12643	c.12382C>G	c.(12382-12384)Ctg>Gtg	p.L4128V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4193					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACAGGCACTCTGCAGAATTT	0.532000													124	294					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65194260	65194260	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:65194260G>T	ENST00000381210.3	-	3	411	c.301C>A	c.(301-303)Cct>Act	p.P101T	TECRL_ENST00000507440.1_Missense_Mutation_p.P101T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	101					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACTCGAGAAGGGTACCACTTT	0.318000													4	59					0.150653	0.151651	1	1	0
POLR1C	9533	broad.mit.edu	37	6	43487821	43487821	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:43487821G>C	ENST00000372389.3	+	5	488	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	POLR1C_ENST00000304004.3_Missense_Mutation_p.E134Q|POLR1C_ENST00000372344.2_Missense_Mutation_p.E134Q	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	134					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AGAAGGCACAGAGATAGATAC	0.478000													5	17					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903056	21903056	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:21903056A>G	ENST00000374840.3	+	11	1481	c.1231A>G	c.(1231-1233)Act>Gct	p.T411A	ALPL_ENST00000539907.1_Missense_Mutation_p.T334A|ALPL_ENST00000374830.1_Missense_Mutation_p.T57A|ALPL_ENST00000374832.1_Missense_Mutation_p.T411A|ALPL_ENST00000540617.1_Missense_Mutation_p.T356A|ALPL_ENST00000425315.2_Missense_Mutation_p.T411A|ALPL_ENST00000374829.1_Missense_Mutation_p.T57A	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	411			T -> A (in HOPS; absence of residual enzymatic activity).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAAGCCCTTCACTGCCATCCT	0.612000													17	45					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205098	66205098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:66205098G>A	ENST00000503581.1	-	4	743	c.206C>T	c.(205-207)tCa>tTa	p.S69L	EYS_ENST00000370618.3_Missense_Mutation_p.S69L|EYS_ENST00000342421.5_Missense_Mutation_p.S69L|EYS_ENST00000393380.2_Missense_Mutation_p.S69L|EYS_ENST00000370616.2_Missense_Mutation_p.S69L|EYS_ENST00000370621.3_Missense_Mutation_p.S69L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	69					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGATTGCCTGAAGTATCTAT	0.368000													13	80					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43910506	43910506	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:43910506G>T	ENST00000314537.5	+	9	998	c.773G>T	c.(772-774)tGc>tTc	p.C258F	CRHR1_ENST00000293493.7_Missense_Mutation_p.C83F|CRHR1_ENST00000352855.5_Missense_Mutation_p.C218F|CRHR1_ENST00000577353.1_Missense_Mutation_p.C258F|CRHR1_ENST00000339069.5_Missense_Mutation_p.C157F|CRHR1_ENST00000398285.3_Missense_Mutation_p.C287F	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	287					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTTCTAGGTGCTGGTTTGGC	0.607000													59	34					1.44317e-28	1.78706e-28	1	1	0
WDR11	55717	broad.mit.edu	37	10	122664181	122664181	+	Silent	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:122664181G>T	ENST00000263461.6	+	25	3297	c.3051G>T	c.(3049-3051)ctG>ctT	p.L1017L	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1017						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGCAGTTGCTGTTGGAAACAA	0.393000													37	65					6.2361e-21	7.53788e-21	1	1	0
NID1	4811	broad.mit.edu	37	1	236201407	236201407	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:236201407C>T	ENST00000264187.6	-	5	1364	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	NID1_ENST00000366595.3_Missense_Mutation_p.E428K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	428					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AAATTACCTTCTGCAACACAT	0.527000													8	57					0	0	1	0	0
CCDC115	84317	broad.mit.edu	37	2	131099321	131099321	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:131099321C>T	ENST00000259229.2	-	3	440	c.217G>A	c.(217-219)Gag>Aag	p.E73K	CCDC115_ENST00000409127.1_Splice_Site_p.E68K|CCDC115_ENST00000437688.2_Splice_Site_p.E68K	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	73						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TCCTGGGCCTCGCTGAAGGAC	0.667000													5	20					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996897	154996897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:154996897G>A	ENST00000392825.3	+	4	757	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	GALNT13_ENST00000409237.1_Missense_Mutation_p.V64M	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	64						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GGGAAAAGCTGTGTTGATTCC	0.368000													4	54					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278758	278758	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:278758C>T	ENST00000382352.3	+	1	1022	c.531C>T	c.(529-531)ggC>ggT	p.G177G		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	177							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GAGACGAGGGCGCCTGCCCGA	0.711000													15	9					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33454200	33454200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:33454200G>A	ENST00000158009.5	+	2	464	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	117										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GCTGGAGGGGGAGCTGAACAA	0.567000													31	199					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170929006	170929006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:170929006C>T	ENST00000436636.2	-	4	549	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TNIK_ENST00000284483.8_Missense_Mutation_p.E69K|TNIK_ENST00000357327.5_Missense_Mutation_p.E69K|TNIK_ENST00000470834.1_Missense_Mutation_p.E69K|TNIK_ENST00000538048.1_Missense_Mutation_p.E69K|TNIK_ENST00000341852.6_Missense_Mutation_p.E69K|TNIK_ENST00000460047.1_Missense_Mutation_p.E69K|TNIK_ENST00000488470.1_Missense_Mutation_p.E69K|TNIK_ENST00000369326.5_Missense_Mutation_p.E69K|TNIK_ENST00000475336.1_Missense_Mutation_p.E69K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	69	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATGTTAATTTCTTGTTTGATT	0.343000													12	54					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103848302	103848302	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:103848302G>C	ENST00000545943.1	-	0	146				ORC5_ENST00000297431.4_Missense_Mutation_p.I17M|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.I17M			O43913	ORC5_HUMAN	origin recognition complex, subunit 5						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGACTGCAAGATGGACACTT	0.517000													3	56					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12639357	12639357	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:12639357G>C	ENST00000376223.2	-	3	806	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	141					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GTTGGGACTTGAGGAGGGCAT	0.627000													12	38					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169695895	169695895	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:169695895G>C	ENST00000333360.7	-	11	1837	c.1698C>G	c.(1696-1698)ctC>ctG	p.L566L	SELE_ENST00000367780.4_Silent_p.L441L|SELE_ENST00000367775.1_Silent_p.L441L|SELE_ENST00000367774.1_Silent_p.L440L|SELE_ENST00000367782.4_Silent_p.L503L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.L440L|SELE_ENST00000367781.4_Silent_p.L503L|SELE_ENST00000367777.1_Silent_p.L503L|SELE_ENST00000367776.1_Silent_p.L503L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	566					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCAGGAGGGAGAGTCCAGCAG	0.428000													10	18					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316941	72316941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:72316941G>A	ENST00000340595.3	+	8	1309	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.M371I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.M415I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M415I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.M415I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	415						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.M371I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATGTTCAGATGAATGGGGATA	0.443000													20	25					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880101	42880101	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:42880101C>G	ENST00000334370.4	+	41	8146	c.7511C>G	c.(7510-7512)cCg>cGg	p.P2504R	MEGF8_ENST00000378073.4_Missense_Mutation_p.P165R|MEGF8_ENST00000251268.6_Missense_Mutation_p.P2571R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2571						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGGTATGGCCGCGGGGCCTG	0.721000													24	28					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872234	227872234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:227872234C>T	ENST00000396625.3	-	48	5087	c.4880G>A	c.(4879-4881)aGa>aAa	p.R1627K	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1624K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1627	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTGCTGCTCTGAAATCTTC	0.532000													11	53					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73185611	73185611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:73185611G>A	ENST00000286657.4	-	8	1208	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	391	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAAGCAGATGAAAAACCATC	0.408000													16	32					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54721344	54721344	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:54721344C>T	ENST00000391750.1	-	13	1730		c.e13-1		LILRB3_ENST00000469273.1_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRA6_ENST00000419410.2_Silent_p.Q532Q|LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRB3_ENST00000245620.9_Silent_p.Q532Q|LILRA6_ENST00000270464.5_Silent_p.Q532Q|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.?(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGTGTGGGCTCTGCTGGAGAG	0.582000													5	52					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700550	44700550	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:44700550G>C	ENST00000396056.2	+	4	930	c.695G>C	c.(694-696)aGt>aCt	p.S232T	ZNF35_ENST00000542250.1_Missense_Mutation_p.S72T|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	232					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAAGGATTTAGTCAGAGTGCA	0.453000													36	59					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38969170	38969170	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:38969170G>T	ENST00000355481.4	+	31	4681	c.4550G>T	c.(4549-4551)tGc>tTc	p.C1517F	RYR1_ENST00000360985.3_Missense_Mutation_p.C1517F|RYR1_ENST00000359596.3_Missense_Mutation_p.C1517F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1517	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCATTGGGTGCCTGGTGGAC	0.557000													31	35					2.70662e-09	3.05878e-09	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133142079	133142079	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:133142079G>A	ENST00000388996.4	-	15	2469	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	KCNQ3_ENST00000521134.1_Silent_p.I563I|KCNQ3_ENST00000519445.1_Silent_p.I671I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	683					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGTTGCAGATGATGGTTTTCA	0.527000													8	147					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669401	53669401	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:53669401C>A	ENST00000600412.1	-	2	262	c.147G>T	c.(145-147)atG>atT	p.M49I	ZNF665_ENST00000396424.3_Missense_Mutation_p.M114I			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTTTTTGCAACATAAGTACTG	0.403000													15	267					1.3612e-06	1.48052e-06	1	1	0
NAA10	8260	broad.mit.edu	37	X	153197542	153197542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:153197542G>A	ENST00000464845.1	-	6	686	c.368C>T	c.(367-369)tCc>tTc	p.S123F	NAA10_ENST00000370009.1_Intron|NAA10_ENST00000393712.3_Missense_Mutation_p.S123F|NAA10_ENST00000370015.4_Missense_Mutation_p.S123F|NAA10_ENST00000393710.3_5'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	123	N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GAGGGTGTTGGAATAGAGGTG	0.582000													8	65					0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49396747	49396747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:49396747C>G	ENST00000548065.1	-	12	1387	c.931G>C	c.(931-933)Gga>Cga	p.G311R	PRKAG1_ENST00000316299.5_Missense_Mutation_p.G320R|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.G260R|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.G227R|PRKAG1_ENST00000552212.1_Missense_Mutation_p.G279R			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	311	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GATACAATTCCCTTGACCACA	0.547000													24	52					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440034	40440034	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:40440034C>A	ENST00000319592.4	-	4	1586	c.877G>T	c.(877-879)Gat>Tat	p.D293Y	RBM47_ENST00000381793.2_Missense_Mutation_p.D293Y|RBM47_ENST00000295971.7_Missense_Mutation_p.D293Y|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.D255Y|RBM47_ENST00000381795.6_Missense_Mutation_p.D293Y			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	293	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGCACGGCATCCTCGCGGCTG	0.627000													7	48					0.27861	0.279992	1	1	0
YARS2	51067	broad.mit.edu	37	12	32903776	32903776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:32903776G>A	ENST00000324868.8	-	3	1007	c.980C>T	c.(979-981)cCa>cTa	p.P327L		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	327					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATCAATCTCTGGAAGGGGCAG	0.428000													33	37					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276319	150276319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:150276319C>T	ENST00000446148.2	-	7	957	c.530G>A	c.(529-531)gGg>gAg	p.G177E	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G161E|ZNF300_ENST00000274599.5_Missense_Mutation_p.G161E|ZNF300_ENST00000418587.2_Missense_Mutation_p.G125E	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATTTATGCCCTGATGCCTC	0.363000													13	107					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170471122	170471122	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:170471122C>A	ENST00000260970.3	+	9	655	c.435C>A	c.(433-435)atC>atA	p.I145I	PPIG_ENST00000409714.3_Silent_p.I130I|PPIG_ENST00000448752.2_Silent_p.I145I|PPIG_ENST00000462903.1_Silent_p.I145I	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	145	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAAGTAATCTCTGGTCAAG	0.343000													78	73					1.91123e-38	2.40585e-38	1	1	0
PDE4A	5141	broad.mit.edu	37	19	10572257	10572257	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:10572257G>C	ENST00000380702.2	+	13	1455	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	PDE4A_ENST00000592685.1_Silent_p.L485L|PDE4A_ENST00000293683.5_Silent_p.L481L|PDE4A_ENST00000352831.6_Silent_p.L507L|PDE4A_ENST00000440014.2_Silent_p.L446L|PDE4A_ENST00000344979.3_Silent_p.L268L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	507	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	ATCACCACCTGGCCGTGGGCT	0.617000													28	29					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276099	186276099	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:186276099C>T	ENST00000445192.2	+	7	1293	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	PRG4_ENST00000367483.4_Silent_p.T375T|PRG4_ENST00000367485.4_Silent_p.T323T|PRG4_ENST00000367486.3_Silent_p.T373T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	416	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.657000													4	62					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776246	77776246	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:77776246G>A	ENST00000521891.2	+	11	10744	c.10296G>A	c.(10294-10296)ttG>ttA	p.L3432L	ZFHX4_ENST00000455469.2_Silent_p.L3387L|ZFHX4_ENST00000050961.6_Silent_p.L3383L|ZFHX4_ENST00000518282.1_Silent_p.L3406L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3383						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCAGCCTTTGATTGACCCAC	0.443000										HNSCC(33;0.089)			5	40					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366260	21366260	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:21366260C>G	ENST00000311048.7	+	5	1298	c.1154C>G	c.(1153-1155)tCa>tGa	p.S385*	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AATTGGTCCTCAACCCTTACT	0.348000													7	43					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7168032	7168032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:7168032G>T	ENST00000341500.5	-	7	1596	c.1557C>A	c.(1555-1557)taC>taA	p.Y519*	INSR_ENST00000302850.5_Nonsense_Mutation_p.Y519*	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	519					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGGGGGCCAGTACGGCTCCC	0.468000													15	33					1.3612e-06	1.48052e-06	1	1	0
ATXN7L2	127002	broad.mit.edu	37	1	110034176	110034176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:110034176C>G	ENST00000369870.3	+	10	2006	c.1991C>G	c.(1990-1992)tCt>tGt	p.S664C	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	664										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AACTGCCTCTCTGAGGAGGAG	0.627000													6	21					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745718	54745718	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:54745718C>A	ENST00000440558.2	-	4	440	c.392G>T	c.(391-393)aGc>aTc	p.S131I	LILRA6_ENST00000396365.2_Missense_Mutation_p.S131I|LILRA6_ENST00000419410.2_Missense_Mutation_p.S131I|LILRA6_ENST00000270464.5_Missense_Mutation_p.S131I|LILRA6_ENST00000391735.3_Missense_Mutation_p.S131I|LILRA6_ENST00000245621.5_Missense_Mutation_p.S131I|LILRB3_ENST00000407860.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCACAGGGCTGGGCAGGGC	0.567000													36	154					1.15505e-17	1.38515e-17	1	1	0
STAB2	55576	broad.mit.edu	37	12	104129317	104129317	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:104129317G>T	ENST00000388887.2	+	52	5713	c.5509G>T	c.(5509-5511)Ggt>Tgt	p.G1837C		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1837	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GACCCTGCAAGGTTCAGAGCT	0.532000													6	31					0.00448238	0.00460353	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228860334	228860334	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:228860334G>T	ENST00000392056.3	-	8	4571	c.4525C>A	c.(4525-4527)Cct>Act	p.P1509T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1509T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1509						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGCTTGGAGGGTTGGGGGCC	0.557000													27	13					7.07758e-08	7.80974e-08	1	1	0
ASTE1	28990	broad.mit.edu	37	3	130743121	130743121	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:130743121C>G	ENST00000264992.3	-	3	1471	c.1030G>C	c.(1030-1032)Gat>Cat	p.D344H	ASTE1_ENST00000514044.1_Missense_Mutation_p.D344H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	344					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACCAAAGCATCACTGATGAAA	0.458000													61	53					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772875	145772875	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:145772875C>T	ENST00000276826.5	-	4	1796	c.1595G>A	c.(1594-1596)aGc>aAc	p.S532N	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S532N|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S532N			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	532					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGGCGAGGCTGGTCCCGCA	0.751000													5	9					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27975258	27975258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:27975258C>T	ENST00000269033.3	-	13	1401	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R444Q	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	417	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCATAGGCTCGGTCCAGATT	0.498000													12	101					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52433025	52433025	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:52433025C>G	ENST00000420323.2	+	76	12510	c.12249C>G	c.(12247-12249)ctC>ctG	p.L4083L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4148					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCCATCGCTCAAGCCTCTGT	0.567000													25	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091676	9091676	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:9091676C>A	ENST00000397910.4	-	1	342	c.139G>T	c.(139-141)Gca>Tca	p.A47S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	47	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCACGATTGCACCTGTAGAT	0.522000													20	33					1.15919e-05	1.2452e-05	1	1	0
ECT2	1894	broad.mit.edu	37	3	172502562	172502562	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:172502562G>A	ENST00000417960.1	+	17	2175	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q	ECT2_ENST00000427830.1_Silent_p.Q567Q|ECT2_ENST00000441497.2_Silent_p.Q567Q|ECT2_ENST00000392692.3_Silent_p.Q598Q|ECT2_ENST00000232458.5_Silent_p.Q567Q|ECT2_ENST00000540509.1_Silent_p.Q598Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	567	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GACCAGTACAGAGGTTACCCA	0.338000													22	118					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067474	3067474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:3067474G>A	ENST00000400569.3	-	38	5177	c.4844C>T	c.(4843-4845)tCa>tTa	p.S1615L	MYOM1_ENST00000356443.4_Missense_Mutation_p.S1615L|MYOM1_ENST00000261606.7_Missense_Mutation_p.S1519L			P52179	MYOM1_HUMAN	myomesin 1	1615	Ig-like C2-type 5.			SD -> QT (in Ref. 5; CAA48833).		striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTGGTCGTCTGAGGCCAGGGC	0.592000													4	68					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57383376	57383376	+	Missense_Mutation	SNP	C	C	A	rs143726641	by1000genomes	TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:57383376C>A	ENST00000361249.3	+	11	1838	c.1742C>A	c.(1741-1743)aCg>aAg	p.T581K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	581	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.T581M(1)|p.T581K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAAGTACAGACGCAGGCTTGC	0.537000													14	22					0.000151284	0.000159412	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57768852	57768852	+	Silent	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:57768852T>A	ENST00000371030.2	+	1	2778	c.2778T>A	c.(2776-2778)ccT>ccA	p.P926P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	926						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCAGGCTCCTAGAGTGCTCT	0.642000													20	82					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060292	54060292	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:54060292G>T	ENST00000312233.2	-	3	850	c.284C>A	c.(283-285)aCg>aAg	p.T95K		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	95					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACCAGAGACGTCTGGGAGGA	0.677000													8	25					0.000274275	0.000287021	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818763	159818763	+	RNA	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:159818763G>A	ENST00000497452.1	-	0	517																											TGGGCAGCTCGAGGCACGACT	0.502000													5	131					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50367219	50367219	+	Missense_Mutation	SNP	C	C	A	rs143331466		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:50367219C>A	ENST00000315520.5	+	1	600	c.263C>A	c.(262-264)gCc>gAc	p.A88D	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	88					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GTGACGCTGGCCTTCCTCGTA	0.662000													23	39					1.16021e-09	1.31852e-09	1	1	0
ERN2	10595	broad.mit.edu	37	16	23706109	23706109	+	Silent	SNP	G	G	A	rs137963364		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:23706109G>A	ENST00000256797.4	-	17	2352	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	ERN2_ENST00000457008.2_Silent_p.I628I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	680	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCGTGCCGGGGATGCCGGAGT	0.652000													9	18					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332643	22332643	+	RNA	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:22332643C>T	ENST00000558896.1	+	0	450																											CTGTGTTACTCTGCCAAAGAT	0.458000													46	78					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153302	74153302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:74153302C>T	ENST00000443185.2	-	3	2026	c.1709G>A	c.(1708-1710)aGc>aAc	p.S570N	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAGCCAGGGCTGCTGGGCTG	0.736000													10	23					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618714	134618714	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:134618714C>A	ENST00000361675.2	+	5	1423	c.1194C>A	c.(1192-1194)gcC>gcA	p.A398A	CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	398					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAAAACATGCCATGCAAGAGA	0.443000													14	31					3.27435e-08	3.64617e-08	1	1	0
COG8	84342	broad.mit.edu	37	16	69370470	69370470	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:69370470G>C	ENST00000306875.4	-	2	637	c.523C>G	c.(523-525)Ctg>Gtg	p.L175V	RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.L50V|RP11-343C2.7_ENST00000564737.1_3'UTR|COG8_ENST00000562081.1_Missense_Mutation_p.L175V	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	175					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCAAGCTCCAGGGCCTCTTCA	0.502000													29	25					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125885982	125885982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:125885982C>T	ENST00000409134.3	-	15	1540	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.E404K|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.E377K	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	441					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	ACCTCTTCTTCATTCTAAAAG	0.373000													6	30					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160043508	160043508	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:160043508C>G	ENST00000263635.6	+	16	2952	c.2715C>G	c.(2713-2715)ctC>ctG	p.L905L	TANC1_ENST00000454300.1_Silent_p.L799L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	905						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCTCTCTCAGGAATCTCT	0.612000													19	32					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050138	238050138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:238050138C>A	ENST00000366570.4	-	6	930	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	258	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCACCAGTTCATTTTCATAT	0.468000													33	60					4.11147e-13	4.78884e-13	1	1	0
CBLB	868	broad.mit.edu	37	3	105572451	105572451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:105572451C>T	ENST00000264122.4	-	3	547	c.226G>A	c.(226-228)Gat>Aat	p.D76N	CBLB_ENST00000394027.3_Missense_Mutation_p.D98N|CBLB_ENST00000405772.1_Missense_Mutation_p.D76N|CBLB_ENST00000545639.1_Missense_Mutation_p.D98N|CBLB_ENST00000403724.1_Missense_Mutation_p.D76N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	76	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGCAAAATATCAAGTATATAT	0.294000			Mis S		AML								7	60					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123756060	123756060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:123756060C>T	ENST00000375026.2	-	1	289	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	25						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATTCCCATCACCATTAAGACT	0.418000													8	40					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36744962	36744962	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:36744962G>C	ENST00000216181.5	-	2	550	c.320C>G	c.(319-321)tCa>tGa	p.S107*	MYH9_ENST00000401701.1_Nonsense_Mutation_p.S107*	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	107	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GATGAGCCCTGAGTAGTAACG	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	26					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852127	125852127	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:125852127G>C	ENST00000373647.4	+	20	2649	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	RABGAP1_ENST00000373643.5_Missense_Mutation_p.E178Q	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	839					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CGAGCGATTTGAGGTTTGTTT	0.413000													11	11					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44019570	44019570	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:44019570C>A	ENST00000359947.4	+	5	677	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	PTPRF_ENST00000438120.1_Missense_Mutation_p.L113M|PTPRF_ENST00000372413.3_Missense_Mutation_p.L113M|PTPRF_ENST00000372414.3_Missense_Mutation_p.L113M	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	113	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACTAACAGCCTGGGTGAGAT	0.577000													13	13					3.27435e-08	3.64617e-08	1	1	0
ACP1	52	broad.mit.edu	37	2	272238	272238	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:272238C>T	ENST00000272067.6	+	3	260	c.164C>T	c.(163-165)tCc>tTc	p.S55F	ACP1_ENST00000405233.1_Missense_Mutation_p.P65S|ACP1_ENST00000407983.3_Missense_Mutation_p.P107S|ACP1_ENST00000439645.2_Missense_Mutation_p.S55F|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000272065.5_Intron	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	55						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GTGGGCCGGTCCCCAGACCCA	0.493000													5	34					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27822737	27822737	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:27822737G>A	ENST00000261716.3	+	11	1510	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	TAOK1_ENST00000536202.1_Missense_Mutation_p.E331K	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	331	Poly-Glu.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGCACAGGAAGAAGAAGAGGT	0.393000													21	16					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102524756	102524756	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:102524756A>G	ENST00000393772.2	-	12	1438	c.1012T>C	c.(1012-1014)Tca>Cca	p.S338P	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.S338P|FBXL13_ENST00000379305.3_Missense_Mutation_p.S338P|FBXL13_ENST00000313221.4_Missense_Mutation_p.S338P|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.S338P|FBXL13_ENST00000379308.3_Missense_Mutation_p.S338P			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	338										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CCTTGGACTGAAATCTGAATT	0.368000													5	108					0	0	1	0	0
B4GALT1	2683	broad.mit.edu	37	9	33166842	33166842	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:33166842C>T	ENST00000379731.4	-	1	512	c.326G>A	c.(325-327)gGc>gAc	p.G109D	B4GALT1_ENST00000535206.1_Missense_Mutation_p.G109D	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	109				SSQPRPGGDSSPVVDSGPGPASNLT -> GKHAKSSFKQFL LQIKELSNPIDLD (in Ref. 6; AAA68219).	oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GCTAGCGGGGCCAGGGCCAGA	0.726000													4	8					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451868	48451868	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:48451868T>A	ENST00000358536.4	-	30	5785	c.5516A>T	c.(5515-5517)tAc>tTc	p.Y1839F	PLXNB1_ENST00000456774.1_Missense_Mutation_p.Y1656F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.Y1839F|PLXNB1_ENST00000448774.2_Missense_Mutation_p.Y450F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.Y1656F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1839					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCTACCTTGTAATGCTGCAG	0.612000													24	39					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256875	63256875	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:63256875G>A	ENST00000323865.3	-	1	905	c.672C>T	c.(670-672)ttC>ttT	p.F224F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	224					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.F224F(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGCGGATGCGGAAGCGCGCAG	0.567000													34	57					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111892133	111892133	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:111892133G>A	ENST00000356080.4	+	14	2170	c.1803G>A	c.(1801-1803)ccG>ccA	p.P601P	ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	601						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.P601P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CTCAGTCACCGCAAAATGTCC	0.393000													4	48					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4501316	4501316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:4501316G>A	ENST00000301284.4	+	15	1982	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E640K	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		635					transcription, DNA-dependent	nucleus	DNA binding|protein binding										TGGCTCCTCTGAAGACCTGCA	0.667000													5	46					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000773	121000773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:121000773G>A	ENST00000392793.1	+	10	3065	c.2794G>A	c.(2794-2796)Gtc>Atc	p.V932I	TECTA_ENST00000264037.2_Missense_Mutation_p.V932I			O75443	TECTA_HUMAN	tectorin alpha	932			V -> A (in dbSNP:rs520805).		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGTGGTGAACGTCACTGCCTA	0.587000													10	65					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888499	38888499	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:38888499C>G	ENST00000302328.3	-	26	5260	c.5062G>C	c.(5062-5064)Gcc>Ccc	p.A1688P	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1650P|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1688P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1688					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1688T(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCGGTGAAGGCGAAAAGAATA	0.453000													30	59					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48782133	48782133	+	Silent	SNP	T	T	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:48782133T>C	ENST00000316623.5	-	25	3452	c.2997A>G	c.(2995-2997)agA>agG	p.R999R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	999	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGAGTATTTCTCATGGGAC	0.542000													46	50					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544374	53544374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:53544374G>A	ENST00000371500.3	+	10	1620	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	PODN_ENST00000395871.2_Missense_Mutation_p.E304K|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.E446K	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	398					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATTGGCCGCGAAGACTTTGC	0.642000													5	114					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119123017	119123017	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:119123017G>T	ENST00000378204.2	-	1	1075	c.269C>A	c.(268-270)tCc>tAc	p.S90Y		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	90					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTAGATGCTGGAGTTGGCATC	0.527000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				22	77					5.26018e-13	6.11508e-13	1	1	0
NOC2L	26155	broad.mit.edu	37	1	883903	883903	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:883903C>G	ENST00000327044.6	-	13	1573	c.1524G>C	c.(1522-1524)ctG>ctC	p.L508L		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	508						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGACATTGGACAGCTTCAGGA	0.627000													18	53					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201104	24201104	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:24201104G>T	ENST00000536471.1	-	3	1262	c.1004C>A	c.(1003-1005)tCc>tAc	p.S335Y	CNR2_ENST00000374472.4_Missense_Mutation_p.S335Y			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	335					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGTGACTGAGGATCTCGGGGC	0.547000													8	68					6.40141e-05	6.81621e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9056559	9056559	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:9056559C>G	ENST00000397910.4	-	3	31090	c.30887G>C	c.(30886-30888)cGa>cCa	p.R10296P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10298	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGATGGCTCGTGGAACTCC	0.522000													10	53					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93122223	93122223	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:93122223G>C	ENST00000298050.3	+	9	1073	c.973G>C	c.(973-975)Gaa>Caa	p.E325Q	CCDC67_ENST00000525646.1_Missense_Mutation_p.E67Q	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	325										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TAAAGAACCAGAAAGGAAAAT	0.279000													3	13					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589326	140589326	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140589326C>A	ENST00000239450.2	+	1	1036	c.847C>A	c.(847-849)Cat>Aat	p.H283N	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		283	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCTTTTCCCATGCCTCAGA	0.413000													29	83					2.65835e-16	3.15063e-16	1	1	0
C8orf47	203111	broad.mit.edu	37	8	99101516	99101516	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:99101516G>A	ENST00000318528.3	+	2	630	c.271G>A	c.(271-273)Gga>Aga	p.G91R	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	91										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CGTAGCCCCTGGAAGGGATGC	0.562000													8	102					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145568050	145568050	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:145568050C>A	ENST00000296575.3	+	1	878	c.223C>A	c.(223-225)Cgg>Agg	p.R75R	HHIP_ENST00000434550.2_Silent_p.R75R|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	75						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTTCTACCCTCGGCTGTCCTG	0.622000													7	34					8.12818e-05	8.62467e-05	1	1	0
GOLGA4	2803	broad.mit.edu	37	3	37340796	37340796	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:37340796G>A	ENST00000361924.2	+	9	1394	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Silent_p.E362E|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	340	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATATGGCCGAGAAGACTAAAC	0.289000													25	32					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71144134	71144134	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:71144134G>T	ENST00000448642.2	+	16	2110	c.1721G>T	c.(1720-1722)cGt>cTt	p.R574L	HK1_ENST00000404387.2_Missense_Mutation_p.R543L|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R527L|HK1_ENST00000359426.6_Missense_Mutation_p.R539L|HK1_ENST00000298649.3_Missense_Mutation_p.R538L			P19367	HXK1_HUMAN	hexokinase 1	539	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ACCAATTTCCGTGTGCTGCTG	0.468000													93	21					5.84261e-33	7.32434e-33	1	1	0
EIF2S2	8894	broad.mit.edu	37	20	32677681	32677681	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:32677681G>A	ENST00000374980.2	-	9	1078	c.857C>T	c.(856-858)tCa>tTa	p.S286L		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	286						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TGTGTCCGGTGATCGGCATGT	0.453000													27	185					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153595202	153595202	+	Silent	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:153595202G>T	ENST00000422373.1	-	6	1133	c.885C>A	c.(883-885)ggC>ggA	p.G295G	FLNA_ENST00000360319.4_Silent_p.G295G|FLNA_ENST00000369850.3_Silent_p.G295G|FLNA_ENST00000344736.4_Silent_p.G295G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	295					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACCATGTTGCCTGTGGGCT	0.657000													46	12					1.00798e-23	1.23063e-23	1	1	0
ZNF7	7553	broad.mit.edu	37	8	146068294	146068294	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:146068294G>C	ENST00000528372.1	+	5	2042	c.1802G>C	c.(1801-1803)aGa>aCa	p.R601T	ZNF7_ENST00000325241.6_Missense_Mutation_p.R601T|ZNF7_ENST00000544249.1_Missense_Mutation_p.R505T|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612T|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAACACCAGAGAATACACACT	0.453000													6	132					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947793	237947793	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:237947793C>T	ENST00000366574.2	+	90	13098	c.12781C>T	c.(12781-12783)Ctg>Ttg	p.L4261L	RYR2_ENST00000542537.1_Silent_p.L4245L|RYR2_ENST00000360064.6_Silent_p.L4267L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4261					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGCTCAGTCTGAAGAGCCT	0.483000													5	16					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853403	29853403	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:29853403C>T	ENST00000357402.5	+	10	1742	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	MVP_ENST00000395353.1_Missense_Mutation_p.A535V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	535					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCGGATCATGCCAGGCTGCAA	0.627000													5	22					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138191700	138191700	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:138191700G>A	ENST00000389567.4	+	18	2422	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	746						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCTCAACATTGAGTATGCACC	0.473000													8	103					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716773	716773	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:716773A>G	ENST00000549091.1	+	39	5083	c.4991A>G	c.(4990-4992)tAc>tGc	p.Y1664C	WDR90_ENST00000293879.4_Missense_Mutation_p.Y1662C|WDR90_ENST00000315764.4_Missense_Mutation_p.Y213C|WDR90_ENST00000547944.1_Missense_Mutation_p.Y261C	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1662										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTGATCATCTACAACCTCTGC	0.657000													24	52					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9011341	9011341	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:9011341C>T	ENST00000397910.4	-	36	39095	c.38892G>A	c.(38890-38892)agG>agA	p.R12964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12966	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGACTGTTCCTGTCCAGGG	0.547000													23	171					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99454632	99454632	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:99454632G>C	ENST00000397899.2	-	3	520	c.189C>G	c.(187-189)gtC>gtG	p.V63V	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		CGATGGCAATGACCTCATTCC	0.473000													5	68					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49012274	49012274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49012274G>A	ENST00000356401.4	+	10	1252	c.913G>A	c.(913-915)Gag>Aag	p.E305K	ARIH2_ENST00000449376.1_Missense_Mutation_p.E305K|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	305					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CATCTGCATTGAGAAGAATGG	0.483000													4	73					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453968	84453968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:84453968C>T	ENST00000377084.2	-	1	2560	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	559	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCGGCGTCTCACACTTGAGG	0.542000													3	26					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283560	99283560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:99283560G>A	ENST00000328345.5	+	1	981	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	271	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGACGACCTGGAGCAGTTCGC	0.697000													21	124					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444684	49444684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:49444684G>A	ENST00000301067.7	-	10	2781	c.2782C>T	c.(2782-2784)Cag>Tag	p.Q928*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCATCAGCTGAGGCGACAAG	0.547000													10	57					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150908620	150908620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:150908620C>T	ENST00000474524.1	+	13	1908	c.1870C>T	c.(1870-1872)Cga>Tga	p.R624*	MED12L_ENST00000309237.4_Nonsense_Mutation_p.R624*|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R484*|MED12L_ENST00000422248.2_Nonsense_Mutation_p.R624*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	624					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCATATCTCGAGGAGATTT	0.483000													10	39					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607900	48607900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:48607900C>T	ENST00000354276.3	-	4	529	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E78K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E68K|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.E68K	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	68	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGGCCCTGTTCTTTCATCTCA	0.547000													20	49					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697021	48697021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:48697021G>A	ENST00000544264.1	-	1	3327	c.3047C>T	c.(3046-3048)tCt>tTt	p.S1016F	CELSR3_ENST00000164024.4_Missense_Mutation_p.S1016F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1016	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACAATTCCAGAGGTGGGCTC	0.552000													31	84					0	0	1	0	0
LINC00173	100287569	broad.mit.edu	37	12	116972650	116972650	+	RNA	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:116972650G>A	ENST00000480237.1	+	0	921					NR_027345.1																						TTCCCGGGCAGCCGCTGCAAC	0.617000													13	28					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127724818	127724818	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:127724818G>T	ENST00000368679.4	-	21	2744	c.2435C>A	c.(2434-2436)cCc>cAc	p.P812H		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	812					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AGTTGACTGGGGCTGAGGGAC	0.587000													42	26					1.5731e-28	1.94399e-28	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4737187	4737187	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:4737187G>C	ENST00000545990.2	-	5	1405	c.881C>G	c.(880-882)tCt>tGt	p.S294C	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S294C	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	294					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATCATATCAGATACCACACT	0.458000													8	43					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100455446	100455446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:100455446C>T	ENST00000240851.4	+	6	947	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	TFG_ENST00000476228.1_Missense_Mutation_p.R203C|TFG_ENST00000418917.2_Missense_Mutation_p.R203C|TFG_ENST00000490574.1_Missense_Mutation_p.R203C	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	203					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGCAGAAGATCGTTCAGGAAC	0.527000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								8	42					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41195241	41195241	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:41195241A>G	ENST00000220509.5	+	5	2963	c.2624A>G	c.(2623-2625)cAt>cGt	p.H875R		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	875					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CATATGTTCCATGCTGACTGC	0.642000													19	44					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167168230	167168230	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:167168230C>A	ENST00000303354.6	-	2	377	c.37G>T	c.(37-39)Gtc>Ttc	p.V13F	SCN9A_ENST00000409435.1_Missense_Mutation_p.V13F|SCN9A_ENST00000409672.1_Missense_Mutation_p.V13F|SCN9A_ENST00000375387.4_Missense_Mutation_p.V13F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	13						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTGAAATGGACAAAGCTCTGA	0.418000													35	37					2.6416e-12	3.04761e-12	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66925281	66925281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:66925281C>T	ENST00000269080.2	-	8	1171	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	ABCA8_ENST00000586539.1_Missense_Mutation_p.G345E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G345E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	345						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGATGTGAACCCCAGACACCC	0.483000													21	14					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274472	68274472	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr14:68274472C>G	ENST00000347230.4	-	5	667	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E177Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	177					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCATCCTCCTCAAGCAGGAGC	0.607000													5	114					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36923421	36923421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:36923421G>C	ENST00000358127.4	-	7	915	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V	PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.L238V|PAX5_ENST00000523145.1_Missense_Mutation_p.L173V|PAX5_ENST00000446742.1_Missense_Mutation_p.L215V|PAX5_ENST00000377847.2_Missense_Mutation_p.L281V|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.L238V|PAX5_ENST00000377853.2_Missense_Mutation_p.L281V|PAX5_ENST00000522003.1_Missense_Mutation_p.L173V|PAX5_ENST00000377852.2_Missense_Mutation_p.L281V	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	281					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(23)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGCTGGCCAGATTGGCCTTC	0.607000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								4	41					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32841967	32841967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:32841967C>T	ENST00000397452.1	-	5	501	c.391G>A	c.(391-393)Gct>Act	p.A131T	BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.A131T|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	131						extracellular region	lipopolysaccharide binding|phospholipid binding										AACAGATCAGCCCCTCCTGTG	0.473000													47	27					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71654463	71654463	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:71654463G>C	ENST00000409544.1	+	24	6094	c.5464G>C	c.(5464-5466)Gaa>Caa	p.E1822Q	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.E762Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1822Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1822					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GACAAAACTTGAATCCTTGTC	0.368000													8	41					0	0	1	0	0
UTS2B	257313	broad.mit.edu	37	3	190993107	190993107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:190993107C>A	ENST00000340524.5	-	8	1054	c.268G>T	c.(268-270)Gag>Tag	p.E90*	UTS2B_ENST00000427544.2_Nonsense_Mutation_p.E90*	NM_198152.3	NP_937795.2			urotensin 2B																		TCCTTCTCCTCCACTAGCTGT	0.393000													78	70					1.13027e-35	1.41984e-35	1	1	0
ALG2	85365	broad.mit.edu	37	9	101984089	101984089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:101984089C>A	ENST00000476832.1	-	1	149	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	30					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ACCAGCCGCTCAGCGCCGCCC	0.711000													4	14					1	1	1	1	0
LARP1B	55132	broad.mit.edu	37	4	129019483	129019483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:129019483G>C	ENST00000326639.6	+	8	1022	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	LARP1B_ENST00000394288.3_Missense_Mutation_p.E271Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.E271Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.E224Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.E271Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.E271Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.E271Q	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	271	HTH La-type RNA-binding.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCTCATCTTAGAGGTAATTGC	0.378000													22	49					0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150632783	150632783	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:150632783G>A	ENST00000357164.3	+	1	331	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	2						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCGATGCAGTCCCTGATGC	0.577000													18	21					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79041275	79041275	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:79041275G>A	ENST00000446378.2	+	4	10996	c.10965G>A	c.(10963-10965)ctG>ctA	p.L3655L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3655	B-box coiled-coil; BBC.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCGTCTTCCTGACTGTAAGTG	0.458000													4	34					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053481	44053481	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:44053481C>G	ENST00000306006.6	-	2	699	c.47G>C	c.(46-48)cGa>cCa	p.R16P	ZNF239_ENST00000374446.2_Missense_Mutation_p.R16P|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.R16P|ZNF239_ENST00000535642.1_Missense_Mutation_p.R16P	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CACTTCCCCTCGATGATTCAC	0.458000													4	42					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56686886	56686886	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:56686886C>G	ENST00000558083.2	+	8	787	c.457C>G	c.(457-459)Caa>Gaa	p.Q153E	TEX9_ENST00000537232.1_Missense_Mutation_p.Q153E|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000352903.2_Missense_Mutation_p.Q228E|TEX9_ENST00000561221.2_Missense_Mutation_p.Q228E			Q8N6V9	TEX9_HUMAN	testis expressed 9	228										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TTTAAAGTCTCAAGTAAAAAA	0.264000													5	22					0	0	1	0	0
IGKV4-1	28908	broad.mit.edu	37	2	89185429	89185429	+	RNA	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:89185429C>G	ENST00000390243.2	+	0	298																											GGGCCACCATCAACTGCAAGT	0.502000													5	40					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170010	58170010	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:58170010C>G	ENST00000309403.2	-	1	872	c.873G>C	c.(871-873)agG>agC	p.R291S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTCCTTGTTCCTCAGACTAT	0.443000													28	54					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31484565	31484565	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:31484565C>T	ENST00000322054.5	+	5	1351	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	356					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTTCCCCAATCTGAAGAGGAT	0.587000													9	71					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725757	140725757	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140725757G>T	ENST00000253812.6	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGCGCTGGCACAAGTCAC	0.677000													24	98					9.86323e-18	1.18515e-17	1	1	0
CLMN	79789	broad.mit.edu	37	14	95670147	95670147	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr14:95670147C>G	ENST00000298912.4	-	9	1652	c.1539G>C	c.(1537-1539)gaG>gaC	p.E513D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	513						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGGCTGTACTCTCTAAAGCAC	0.463000													6	37					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083606	42083606	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:42083606C>T	ENST00000187608.9	+	2	159	c.119C>T	c.(118-120)tCa>tTa	p.S40L	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S40L	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	40						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TTTATTGCATCAGCGCCCTTT	0.463000													25	44					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134738497	134738497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:134738497G>A	ENST00000292035.5	-	7	817	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	MED27_ENST00000357028.2_Missense_Mutation_p.H216Y	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	252					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AGCTGATAGTGGAGCAGGGCA	0.527000													14	21					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21008761	21008761	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:21008761C>G	ENST00000261383.3	-	44	6444	c.6445G>C	c.(6445-6447)Gag>Cag	p.E2149Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2149	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCATACACCTCTTTGGCTGGC	0.502000													9	60					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867305	29867305	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:29867305C>T	ENST00000399218.4	-	4	1310	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	GAREM_ENST00000269209.6_Missense_Mutation_p.D419N	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GGCAGGATGTCATGAGGAAAG	0.532000													10	82					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12985093	12985093	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:12985093G>A	ENST00000251472.4	+	26	4161	c.4122G>A	c.(4120-4122)gcG>gcA	p.A1374A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1374					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACCCCGCGCGACGACCCCCG	0.741000													4	14					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544433	115544433	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:115544433G>T	ENST00000310836.6	+	2	919	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	UGT8_ENST00000394511.3_Missense_Mutation_p.D133Y	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	133					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGAAAAATTTGACCTGCTGCT	0.428000													47	80					6.27289e-28	7.73614e-28	1	1	0
OVGP1	5016	broad.mit.edu	37	1	111965674	111965674	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:111965674C>T	ENST00000369732.3	-	6	539		c.e6-1		OVGP1_ENST00000540696.1_Splice_Site	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa						chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACAGGAGCTCCTAAGAGGAAA	0.567000													4	61					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100404991	100404991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:100404991G>A	ENST00000358173.3	-	13	2798	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	EPHB4_ENST00000360620.3_Missense_Mutation_p.S777F	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	777	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CATTACCAGGGAGCTCGTGTA	0.572000													3	42					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144904670	144904670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:144904670C>G	ENST00000529945.1	-	16	3570	c.3131G>C	c.(3130-3132)aGa>aCa	p.R1044T	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R881T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1018T|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R881T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R947T|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R881T|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1018T|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R1044T|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R668T|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R881T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	881					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATAGAGCTGTCTCTCTGCTTG	0.413000			T	PDGFRB	MPD								124	206					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499184	65499184	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:65499184G>A	ENST00000261883.4	-	4	526	c.360C>T	c.(358-360)ctC>ctT	p.L120L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	120					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCTCCCTGTTGAGGCACCAGA	0.647000													6	53					0	0	1	0	0
MRPS18B	28973	broad.mit.edu	37	6	30593441	30593441	+	Missense_Mutation	SNP	G	G	A	rs144633864		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:30593441G>A	ENST00000259873.4	+	7	801	c.644G>A	c.(643-645)cGc>cAc	p.R215H	MRPS18B_ENST00000506373.2_3'UTR|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	215					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GAACTGTCTCGCCTTCGCCGG	0.617000													25	63					0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55479717	55479717	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:55479717G>A	ENST00000254770.2	+	6	1521	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	315					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CAATGAAACAGACCGGCTGGT	0.537000													6	84					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103287807	103287807	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:103287807T>A	ENST00000520539.1	-	47	7277	c.6671A>T	c.(6670-6672)aAa>aTa	p.K2224I	UBR5_ENST00000220959.4_Missense_Mutation_p.K2224I|UBR5_ENST00000521922.1_Missense_Mutation_p.K2218I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2224					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGCGGAATTTTGATTCTTT	0.338000													26	105					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530011	80530011	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:80530011C>G	ENST00000295057.3	-	2	1590	c.934G>C	c.(934-936)Gcc>Ccc	p.A312P	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A312P|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	312						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGTTCCCGGCCAGGGTGATG	0.637000										HNSCC(69;0.2)			11	24					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807128	22807128	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:22807128C>T	ENST00000361524.3	-	4	902	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ZNF521_ENST00000584787.1_Missense_Mutation_p.E32K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E252K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	252					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGCCTTCCTCACACTGACTG	0.552000			T	PAX5	ALL								31	69					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43483806	43483806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:43483806C>A	ENST00000372422.2	-	2	291	c.109G>T	c.(109-111)Gag>Tag	p.E37*	YIPF3_ENST00000506469.1_Nonsense_Mutation_p.E43*	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	37					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCCATGTTCTCCATGTCAATC	0.537000													3	35					1	1	1	1	0
OGDH	4967	broad.mit.edu	37	7	44715703	44715703	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:44715703G>C	ENST00000222673.5	+	9	1203	c.1161G>C	c.(1159-1161)aaG>aaC	p.K387N	OGDH_ENST00000444676.1_Missense_Mutation_p.K402N|OGDH_ENST00000443864.2_Missense_Mutation_p.K387N|OGDH_ENST00000449767.1_Missense_Mutation_p.K383N|OGDH_ENST00000439616.2_Missense_Mutation_p.K237N|OGDH_ENST00000543843.1_Missense_Mutation_p.K338N|OGDH_ENST00000447398.1_Missense_Mutation_p.K398N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	387					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGATGGGCAAGACCAAAGCCG	0.562000													13	95					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223989919	223989919	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:223989919G>A	ENST00000391878.2	-	10	1505	c.737C>T	c.(736-738)cCa>cTa	p.P246L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P375L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	369					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CGGCAGGGCTGGCTTCACCAG	0.557000													12	87					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566554	55566554	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:55566554G>A	ENST00000373965.2	-	36	5234	c.4840C>T	c.(4840-4842)Ctg>Ttg	p.L1614L	PCDH15_ENST00000414778.1_Silent_p.L1611L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGTAACCAGAGTTGGTCTT	0.453000										HNSCC(58;0.16)			27	122					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140787882	140787882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140787882C>T	ENST00000520790.1	+	1	113	c.113C>T	c.(112-114)cCg>cTg	p.P38L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCGATTCCGGAGGAGCTG	0.652000											OREG0016861	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	17					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76831829	76831829	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:76831829C>T	ENST00000278559.3	+	10	1550	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	CAPN5_ENST00000529629.1_Missense_Mutation_p.S454L|CAPN5_ENST00000456580.2_Missense_Mutation_p.S494L|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	454	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TACATCAACTCACGCAGCGTC	0.657000													7	75					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362240	87362240	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:87362240G>T	ENST00000327946.7	-	16	2905	c.2820C>A	c.(2818-2820)agC>agA	p.S940R	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S511R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	940						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAGTGTCCGGCTGGTGCCAT	0.652000										Multiple Myeloma(13;0.14)			13	9					0.00010058	0.000106352	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33658329	33658329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:33658329G>A	ENST00000504830.1	-	7	1485	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L384F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	384	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCAGAGGGAGTCCCGAATCT	0.507000										HNSCC(64;0.19)			75	72					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146031255	146031255	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:146031255G>A	ENST00000296577.4	+	6	921	c.406G>A	c.(406-408)Gat>Aat	p.D136N	ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	136	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTTTTTTTAGGATCCTCCTGA	0.303000													4	22					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738751	8738751	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:8738751C>T	ENST00000311434.9	-	8	723	c.484G>A	c.(484-486)Gag>Aag	p.E162K	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	162					platelet activation	cytosol											GACACCAGCTCAGGATCCACG	0.607000													4	29					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301729	110301729	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:110301729A>C	ENST00000369805.3	-	6	645	c.416T>G	c.(415-417)cTg>cGg	p.L139R	EPS8L3_ENST00000361852.4_Missense_Mutation_p.L139R|EPS8L3_ENST00000361965.4_Missense_Mutation_p.L139R|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	139						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGTCTTCAGTCGCTCTGC	0.617000													4	9					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903378	5903378	+	Missense_Mutation	SNP	C	C	A	rs149359798	by1000genomes	TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:5903378C>A	ENST00000378961.4	+	4	792	c.588C>A	c.(586-588)aaC>aaA	p.N196K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	196						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGACACAAAACGCTTTTCTCA	0.483000													27	78					7.07758e-08	7.80974e-08	1	1	0
RHOA	387	broad.mit.edu	37	3	49412903	49412903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49412903C>G	ENST00000418115.1	-	2	504	c.120G>C	c.(118-120)gaG>gaC	p.E40D	RHOA_ENST00000454011.2_Missense_Mutation_p.E40D|RHOA_ENST00000422781.1_Missense_Mutation_p.E40D	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCACATAGTTCTCAAACACTG	0.438000													44	107					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87936104	87936104	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:87936104G>T	ENST00000309893.2	-	4	547	c.482C>A	c.(481-483)tCt>tAt	p.S161Y		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	161					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	p.S161Y(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GTATTTCACAGAATTCCAGTG	0.408000													4	46					0.014758	0.0149548	1	1	0
DUSP10	11221	broad.mit.edu	37	1	221912583	221912583	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:221912583C>T	ENST00000366899.3	-	2	742	c.504G>A	c.(502-504)ccG>ccA	p.P168P	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	168	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGCCCTGACTCGGCAGGTGAC	0.517000													4	72					0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17997869	17997869	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:17997869C>G	ENST00000281047.3	+	1	107	c.84C>G	c.(82-84)gaC>gaG	p.D28E		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	28					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTCCTGGGACTGGAAGGACA	0.612000													24	49					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236988	9236988	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:9236988C>T	ENST00000305444.2	-	1	638	c.639G>A	c.(637-639)ggG>ggA	p.G213G		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAAAATGATCCCAGAGAGAG	0.428000													8	61					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150064444	150064444	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:150064444G>A	ENST00000369130.3	+	12	1858	c.1312G>A	c.(1312-1314)Gac>Aac	p.D438N	VPS45_ENST00000535106.1_Missense_Mutation_p.D369N|VPS45_ENST00000369128.5_Missense_Mutation_p.D333N	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	438					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGGAAGTGACCTCTTCAG	0.438000													19	42					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455625	50455625	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:50455625C>A	ENST00000447370.2	-	9	1768	c.1678G>T	c.(1678-1680)Ggc>Tgc	p.G560C	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G464C	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	560					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCCCCCAGGCCAAGTCCTCCC	0.652000													58	32					1.72039e-30	2.13905e-30	1	1	0
BMPR2	659	broad.mit.edu	37	2	203397313	203397313	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:203397313C>G	ENST00000374580.4	+	9	1673	c.1134C>G	c.(1132-1134)ggC>ggG	p.G378G	BMPR2_ENST00000374574.2_Silent_p.G378G	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	378	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATCAGGTTGGCACTATCAGAT	0.368000													19	20					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066699	9066699	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:9066699G>T	ENST00000397910.4	-	3	20950	c.20747C>A	c.(20746-20748)cCa>cAa	p.P6916Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6918	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTATCCATTGGAGCTGTGGC	0.463000													88	95					9.10895e-26	1.11658e-25	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51611556	51611556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:51611556C>G	ENST00000371117.3	-	59	10236	c.9961G>C	c.(9961-9963)Gat>Cat	p.D3321H	PKHD1_ENST00000340994.4_Missense_Mutation_p.D3321H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3321					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGTTTTTATCTTTTATCTTT	0.358000													4	38					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505720	60505720	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:60505720C>A	ENST00000371201.3	-	5	723	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	206							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGATTGGGTCCAGGATCTTC	0.433000													21	66					1.50039e-11	1.7212e-11	1	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24524196	24524196	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:24524196G>C	ENST00000376862.3	+	2	1096	c.463G>C	c.(463-465)Gag>Cag	p.E155Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGAGGAGGAGGAGTTCCAGGA	0.532000													13	156					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072386	133072386	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:133072386G>A	ENST00000326499.6	-	5	1222	c.1098C>T	c.(1096-1098)tgC>tgT	p.C366C	VNN2_ENST00000525270.1_Silent_p.C313C|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	366					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTAAATGACAGCAAAGCTCCT	0.393000													55	68					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	881651	881651	+	Missense_Mutation	SNP	C	C	T	rs143512436	byFrequency	TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:881651C>T	ENST00000312090.6	-	7	1199	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.R350H|MED16_ENST00000325464.1_Missense_Mutation_p.R350H|MED16_ENST00000395808.3_Missense_Mutation_p.R350H|MED16_ENST00000269814.4_Missense_Mutation_p.R350H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	350					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGACACACGGTCCAGATC	0.587000													11	93					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092405	35092405	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:35092405C>T	ENST00000378617.3	-	7	1873	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	PIGO_ENST00000341666.3_Silent_p.G493G|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	493					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGCTATGGCCCCAACCAGGC	0.552000													20	26					0	0	1	0	0
RHEB	6009	broad.mit.edu	37	7	151181864	151181864	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:151181864C>T	ENST00000262187.5	-	3	563	c.151G>A	c.(151-153)Gga>Aga	p.G51R	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	51					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		TATTCTTGTCCATTTACTGTG	0.363000													6	53					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61121366	61121366	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:61121366C>A	ENST00000426130.2	-	5	1113	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	CYB561A3_ENST00000294072.4_Missense_Mutation_p.V95F|CYB561A3_ENST00000536915.1_Missense_Mutation_p.V95F|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.V95F|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000540317.1_5'UTR	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3																		AGCCCCACAACAGTGAGGACG	0.587000													10	51					4.68919e-08	5.2026e-08	1	1	0
RBPJL	11317	broad.mit.edu	37	20	43941004	43941004	+	Silent	SNP	G	G	T	rs148623085		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:43941004G>T	ENST00000343694.3	+	6	660	c.588G>T	c.(586-588)tcG>tcT	p.S196S	RBPJL_ENST00000372743.1_Silent_p.S196S|RBPJL_ENST00000372741.3_Silent_p.S196S	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	196					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CGAAGCCCTCGCAGAAGAAGC	0.652000													9	25					1.58986e-06	1.72e-06	1	1	0
ETFB	2109	broad.mit.edu	37	19	51850245	51850245	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:51850245C>A	ENST00000354232.4	-	4	3246	c.779G>T	c.(778-780)gGc>gTc	p.G260V	ETFB_ENST00000309244.4_Missense_Mutation_p.G169V|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	169					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGTCTCCAGGCCCCCATCGAT	0.647000													4	17					0.014758	0.0149548	1	1	0
PER2	8864	broad.mit.edu	37	2	239185835	239185835	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:239185835C>T	ENST00000254657.3	-	3	510		c.e3-1		PER2_ENST00000440245.1_Splice_Site|PER2_ENST00000254658.3_Splice_Site|PER2_ENST00000355768.2_Splice_Site	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2						circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTATCTGGACTATGAAAACA	0.393000													778	46					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99525457	99525457	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:99525457C>T	ENST00000375231.1	-	5	945	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ZNF510_ENST00000223428.4_Missense_Mutation_p.E99K|ZNF510_ENST00000472201.1_5'UTR			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	99	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTCCTTGCTCCAACTTGAAG	0.433000													10	67					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7036027	7036027	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:7036027C>T	ENST00000389658.3	-	13	1891	c.1798G>A	c.(1798-1800)Gta>Ata	p.V600I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	600	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTACTGTCTACCGTCTCTACC	0.448000													16	33					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47912921	47912921	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:47912921G>C	ENST00000507489.1	-	3	502	c.326C>G	c.(325-327)tCt>tGt	p.S109C	NFXL1_ENST00000329043.3_Missense_Mutation_p.S109C|NFXL1_ENST00000381538.3_Missense_Mutation_p.S109C	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	109						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCCTTCTTCAGATGAAGAGCT	0.328000													16	26					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691974	31691974	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:31691974G>A	ENST00000360542.3	-	1	633	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	127						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						ATTGAGCAGCGGCCTCAGTGG	0.537000													88	101					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197029614	197029614	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:197029614T>G	ENST00000367412.1	-	5	730	c.687A>C	c.(685-687)caA>caC	p.Q229H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	229	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCATAGGTTTGCTTTACAG	0.284000													29	64					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48385495	48385495	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:48385495G>A	ENST00000285737.4	+	15	2434	c.2341G>A	c.(2341-2343)Ggt>Agt	p.G781S	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.G737S	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	781					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTACAGGTGGGTGGAATTAA	0.438000													3	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:7579374C>A	ENST00000420246.2	-	4	445	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	TP53_ENST00000269305.4_Missense_Mutation_p.G105C|TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGTAGCTGCCCTGGTAGGTT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	11					2.08457e-15	2.461e-15	1	1	0
GORAB	92344	broad.mit.edu	37	1	170513848	170513848	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:170513848C>T	ENST00000367763.3	+	4	619	c.599C>T	c.(598-600)tCc>tTc	p.S200F	GORAB_ENST00000367762.1_Missense_Mutation_p.S200F	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	200						Golgi apparatus|nucleus		p.S200F(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTTCTAGATCCAAAAGAACT	0.383000													8	90					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936960	15936960	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:15936960C>T	ENST00000504595.1	+	4	1622	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	FBXL7_ENST00000329673.7_Missense_Mutation_p.L369F|FBXL7_ENST00000510662.1_Missense_Mutation_p.L334F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	381					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGCGCTACCTCAACGCGAG	0.627000													24	17					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477702	31477702	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:31477702C>T	ENST00000408912.3	+	8	2902	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	ARMC5_ENST00000538189.1_Missense_Mutation_p.S799L|ARMC5_ENST00000412665.2_Missense_Mutation_p.S411L|ARMC5_ENST00000563544.1_Missense_Mutation_p.S767L|ARMC5_ENST00000268314.4_Missense_Mutation_p.S767L|ARMC5_ENST00000457010.2_3'UTR			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	767							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGAGCGGCCTCAGCCACCGCC	0.677000													3	30					0	0	1	0	0
CARD18	59082	broad.mit.edu	37	11	105009559	105009559	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:105009559G>C	ENST00000530950.1	-	2	253	c.254C>G	c.(253-255)tCa>tGa	p.S85*	CARD18_ENST00000526823.1_Nonsense_Mutation_p.S46*|CARD18_ENST00000532895.1_Nonsense_Mutation_p.S46*	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	85	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						ACCCATCTTTGAGGCAAGTTG	0.408000													15	142					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420449	27420449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:27420449G>C	ENST00000211936.6	-	6	1173	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q297E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGAATTCTTTGATGTTGAGTA	0.368000													8	62					0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201380632	201380632	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:201380632G>T	ENST00000361379.4	-	7	401	c.309C>A	c.(307-309)gaC>gaA	p.D103E	TNNI1_ENST00000367312.1_Missense_Mutation_p.D103E|TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000336092.4_Missense_Mutation_p.D103E	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	103	Involved in binding TNC and actin.			D -> A (in Ref. 5; CAD91135).	muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						TCCCACGGAGGTCCATCACCT	0.632000													14	14					0.00400662	0.00413587	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94040248	94040248	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:94040248C>T	ENST00000297268.6	+	22	1716	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	415					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAGAGCTGGCGTCATGGTAA	0.463000										HNSCC(75;0.22)			20	36					0	0	1	0	0
AMT	275	broad.mit.edu	37	3	49456695	49456695	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49456695C>G	ENST00000273588.3	-	6	996	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.E135Q|AMT_ENST00000395338.2_Missense_Mutation_p.E232Q|AMT_ENST00000458307.2_Missense_Mutation_p.E188Q|AMT_ENST00000538581.1_Missense_Mutation_p.E176Q	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	232					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGACACACCTCCACACCATCC	0.597000													12	10					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80199402	80199402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:80199402G>A	ENST00000450142.2	-	14	2236	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S570F|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S657F|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S601F|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S657F	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	657	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TGTTGTGGAGGAGACAGTGCC	0.458000													16	29					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8616632	8616632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:8616632C>T	ENST00000338257.8	-	8	1030	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	255	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACCAGAGTCTCACCAAAGTCG	0.577000													12	53					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333655	70333655	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:70333655G>A	ENST00000373644.4	+	2	1769	c.1560G>A	c.(1558-1560)gaG>gaA	p.E520E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	520					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAGCCCCTGAGAGAGGACTCT	0.498000													9	46					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32148967	32148967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:32148967C>T	ENST00000373672.3	-	35	2899	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K	COL16A1_ENST00000271069.6_Missense_Mutation_p.E794K|COL16A1_ENST00000373668.3_Missense_Mutation_p.E795K	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	795	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCTCCAGGCTCCCCCTGCAAG	0.617000													18	129					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749383	22749383	+	RNA	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:22749383C>G	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACTTTCCATCTGGATTTATT	0.443000													10	71					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023340	17023340	+	RNA	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:17023340C>T	ENST00000492551.1	-	0	1607					NR_026567.1																						GCGTCGGCTTCAGGCTCTTGC	0.617000													3	26					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56342268	56342268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:56342268C>A	ENST00000370754.5	-	91	21456	c.21457G>T	c.(21457-21459)Gaa>Taa	p.E7153*	DST_ENST00000370788.2_Nonsense_Mutation_p.E4778*|DST_ENST00000446842.2_Nonsense_Mutation_p.E6649*|DST_ENST00000244364.6_Nonsense_Mutation_p.E4561*|DST_ENST00000361203.3_Nonsense_Mutation_p.E6864*|DST_ENST00000421834.2_Nonsense_Mutation_p.E4887*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.E6975*			Q03001	DYST_HUMAN	dystonin	6973					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTTTTCTTCCAGTTTCTTC	0.433000													40	78					2.59497e-14	3.05173e-14	1	1	0
PTH2R	5746	broad.mit.edu	37	2	209358037	209358037	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:209358037G>T	ENST00000272847.2	+	13	1519	c.1306G>T	c.(1306-1308)Gac>Tac	p.D436Y	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	436						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCTCTCCGTGGACTGGAAAAG	0.587000													20	10					4.96729e-08	5.50112e-08	1	1	0
ACY3	91703	broad.mit.edu	37	11	67413351	67413351	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:67413351G>T	ENST00000255082.3	-	4	414	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	82					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TCCGGGGTGGGCCTGGAACTG	0.612000													27	22					2.24059e-21	2.71371e-21	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49448439	49448439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:49448439C>T	ENST00000301067.7	-	3	271	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACACCGGGGCCAATCAAATGG	0.637000													4	8					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086421	56086421	+	Silent	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:56086421A>T	ENST00000312711.1	+	1	639	c.639A>T	c.(637-639)atA>atT	p.I213I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CTCTTCTGATAGTTCTTTTAT	0.393000													24	60					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978315	58978315	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:58978315G>T	ENST00000361050.3	-	1	2109	c.2024C>A	c.(2023-2025)gCc>gAc	p.A675D		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	675						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCCGTAGATGGCCAAGGTGAT	0.537000													51	45					9.52127e-25	1.16477e-24	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													10	164					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463956	125463956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:125463956C>T	ENST00000328599.3	+	1	909	c.788C>T	c.(787-789)gCt>gTt	p.A263V	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	263					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCGTCCATGCTTGTGAGTGG	0.458000													13	272					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42751257	42751257	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:42751257G>C	ENST00000310232.6	-	15	1990	c.1907C>G	c.(1906-1908)aCc>aGc	p.T636S		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	636										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTCGCTCCCGGTTGGGTTGTG	0.607000													26	49					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29588977	29588977	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:29588977G>A	ENST00000377034.4	-	11	1559	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	GABBR1_ENST00000376977.3_Silent_p.I408I|GABBR1_ENST00000377012.4_Silent_p.I291I|GABBR1_ENST00000355973.3_Silent_p.I291I|GABBR1_ENST00000377016.4_Silent_p.I346I	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	408					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CTGTGCAGTTGATAGAAGGGT	0.493000													6	42					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589325	140589325	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140589325C>A	ENST00000239450.2	+	1	1035	c.846C>A	c.(844-846)tcC>tcA	p.S282S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		282	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATACCTTTTCCCATGCCTCAG	0.408000													29	84					2.65835e-16	3.15063e-16	1	1	0
NAA25	80018	broad.mit.edu	37	12	112509733	112509733	+	Silent	SNP	T	T	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:112509733T>C	ENST00000261745.4	-	10	1250	c.1002A>G	c.(1000-1002)ttA>ttG	p.L334L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	334						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTTGACTTCGTAAACGCCTAA	0.413000													51	71					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909830	52909830	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:52909830C>T	ENST00000391788.2	+	6	698	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	ZNF528_ENST00000594530.1_Silent_p.L69L|ZNF528_ENST00000360465.3_Silent_p.L69L|ZNF528_ENST00000598192.1_Silent_p.L69L			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCCCTGGACTCTGCAGAGTGA	0.478000													7	110					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121175658	121175658	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:121175658G>A	ENST00000242592.4	+	5	642	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	164						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	AGTGATGCAGGAGCTGCGTCC	0.662000													9	48					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436062	158436062	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:158436062C>A	ENST00000289451.2	+	1	791	c.711C>A	c.(709-711)acC>acA	p.T237T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T237T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GATACAAGACCTTCTCCACCT	0.448000													28	52					1.88708e-17	2.25856e-17	1	1	0
NDST4	64579	broad.mit.edu	37	4	115998164	115998164	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:115998164C>T	ENST00000264363.2	-	2	707	c.29G>A	c.(28-30)aGt>aAt	p.S10N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	10						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTTCGAAAACTTCTCCGAAG	0.348000													11	20					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89053792	89053792	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:89053792G>T	ENST00000286614.6	-	10	2002	c.1721C>A	c.(1720-1722)gCc>gAc	p.A574D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	574					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GAGGCATAAGGCCAAGATGCA	0.478000													21	107					1.00905e-13	1.18208e-13	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18808793	18808793	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:18808793A>T	ENST00000400664.1	+	1	1370	c.1318A>T	c.(1318-1320)Acc>Tcc	p.T440S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	440						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGTGCTGACCTTGGCCAA	0.607000													15	71					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245818	202245818	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:202245818G>A	ENST00000332624.3	-	16	2621	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	731				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGGTTGTAGTGGAATCTCGTC	0.512000													61	27					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49043284	49043284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49043284G>A	ENST00000343546.4	+	7	1699	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K	P4HTM_ENST00000383729.4_Missense_Mutation_p.R383K	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	383	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GCAGATAACAGAACCTACGAT	0.502000													8	49					0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55966382	55966382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:55966382C>T	ENST00000438389.2	-	4	1135	c.301G>A	c.(301-303)Gat>Aat	p.D101N	ISOC2_ENST00000425675.2_Missense_Mutation_p.D171N|ISOC2_ENST00000085068.3_Missense_Mutation_p.D187N	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	171					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		TGGACGGCATCGCCCACAAGC	0.617000											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	68					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20820969	20820969	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:20820969C>T	ENST00000380249.1	+	16	2056	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	FOCAD_ENST00000338382.6_Silent_p.F564F|FOCAD_ENST00000605086.1_5'UTR	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	564						integral to membrane	binding										TGCAGCGTTTCATGGCTGTGT	0.413000													88	82					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1391215	1391215	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:1391215G>T	ENST00000259806.1	+	1	1147	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	345					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTCGCCTGGCGCCTCGCCTTA	0.706000													4	7					0.0215528	0.0217676	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94206126	94206126	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:94206126T>A	ENST00000515393.1	-	16	2311	c.2312A>T	c.(2311-2313)aAa>aTa	p.K771I	MCTP1_ENST00000505208.1_Missense_Mutation_p.K550I|MCTP1_ENST00000312216.8_Missense_Mutation_p.K550I|MCTP1_ENST00000429576.2_Missense_Mutation_p.K504I|MCTP1_ENST00000505078.1_Missense_Mutation_p.K287I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	771					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTTACCTGTTTAGAGAGTCT	0.348000													22	35					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008454	11008454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:11008454C>A	ENST00000377004.4	-	12	1737	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	C1orf127_ENST00000377008.4_Nonsense_Mutation_p.E413*	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	431								p.E413K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGCCGGGCTCCCCCATGATG	0.652000													8	38					0.000274275	0.000287021	1	1	0
TMEM95	339168	broad.mit.edu	37	17	7259714	7259714	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:7259714G>T	ENST00000330767.4	+	6	464	c.437G>T	c.(436-438)aGt>aTt	p.S146I	TMEM95_ENST00000389982.4_Intron|TMEM95_ENST00000576060.1_Missense_Mutation_p.S138I	NM_198154.1	NP_937797.1	Q3KNT9	TMM95_HUMAN	transmembrane protein 95	138						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CCTGCAGGAAGTCAGGATCTT	0.582000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	86	42					1.92282e-43	2.42547e-43	1	1	0
CBX2	84733	broad.mit.edu	37	17	77758355	77758355	+	Silent	SNP	T	T	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:77758355T>G	ENST00000310942.4	+	5	1217	c.1113T>G	c.(1111-1113)ctT>ctG	p.L371L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	371					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGTCTCCTTGCCCGCCACG	0.697000													9	18					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141527	25141527	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:25141527C>G	ENST00000260600.5	-	1	1181	c.330G>C	c.(328-330)gtG>gtC	p.V110V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	110					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAATTCCAGCCACGGCGAGGG	0.602000													20	37					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49692247	49692247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:49692247C>T	ENST00000252826.5	+	14	2044	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R640C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R286C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	640					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAGGGCTGCCCGCCTCCTCCT	0.627000													115	139					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539639	111539639	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:111539639G>A	ENST00000354925.2	-	7	2301	c.596C>T	c.(595-597)tCt>tTt	p.S199F	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394595.3_Silent_p.L130L|PITX2_ENST00000394598.2_Missense_Mutation_p.S199F|PITX2_ENST00000355080.5_Missense_Mutation_p.S153F|PITX2_ENST00000306732.3_Missense_Mutation_p.S206F	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	199					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACGTTCATAGAGTTGAAGAA	0.547000													5	32					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337068	104337068	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:104337068C>G	ENST00000358755.4	+	4	1051	c.734C>G	c.(733-735)tCt>tGt	p.S245C	FZD6_ENST00000523739.1_Missense_Mutation_p.S213C|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.S245C	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	245					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGCATTGTATCTCTTATGTAC	0.388000													32	54					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13325057	13325057	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:13325057C>G	ENST00000360228.5	-	40	5929	c.5930G>C	c.(5929-5931)cGc>cCc	p.R1977P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1978P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1978					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGCTCCTCGCGCATGGCCTG	0.617000													8	14					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881457	33881457	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:33881457C>T	ENST00000504830.1	-	2	591	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G86S|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G86S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	86					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCTCTGAGCCATCCAAATCT	0.473000										HNSCC(64;0.19)			28	171					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44176914	44176914	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:44176914C>T	ENST00000360029.3	-	2	1598	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	439						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTTTCATTTCTTCTTCCACA	0.403000										HNSCC(17;0.042)			27	142					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12933942	12933942	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:12933942G>A	ENST00000379348.2	+	4	505	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCTTGGGCTCGAACTGTGTTC	0.532000													12	63					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136315040	136315040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:136315040C>T	ENST00000371929.3	+	23	3442	c.2998C>T	c.(2998-3000)Cgc>Tgc	p.R1000C	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R969C|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1000C|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1000	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGCTGCCTCGCCCGGAACC	0.677000													3	14					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10124102	10124102	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:10124102G>A	ENST00000591589.1	+	0	178				RDH8_ENST00000171214.1_De_novo_Start_OutOfFrame			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)						estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GGAGGGAGCAGATGAGCCCAG	0.622000													7	18					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9986218	9986218	+	Silent	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:9986218A>T	ENST00000383811.3	+	10	1817	c.1218A>T	c.(1216-1218)tcA>tcT	p.S406S	CRELD1_ENST00000452070.1_Silent_p.S406S|CRELD1_ENST00000397170.3_Silent_p.S406S|CRELD1_ENST00000326434.5_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	406					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						ACTGGTTGTCAGAGCGCAGTG	0.617000													14	26					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186442901	186442901	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:186442901A>G	ENST00000265023.4	+	4	628	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q139R|KNG1_ENST00000447445.1_Missense_Mutation_p.Q139R	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	139	Cystatin 2.|O-glycosylated at one site only.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTGACAGCCCAGTACGACTGC	0.493000													26	17					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121976185	121976185	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:121976185G>A	ENST00000373964.2	-	6	1353	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	BRINP1_ENST00000265922.3_Intron					bone morphogenetic protein/retinoic acid inducible neural-specific 1	0																	GGCACTGAGTGAGACTCTCTA	0.522000													17	100					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49004677	49004677	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49004677C>T	ENST00000356401.4	+	6	846	c.507C>T	c.(505-507)tgC>tgT	p.C169C	ARIH2_ENST00000449376.1_Silent_p.C169C|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	169					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		AGCAGCACTGCTCAGTTCTCG	0.507000													10	83					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187446976	187446976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:187446976C>T	ENST00000406870.2	-	5	1583	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	BCL6_ENST00000232014.4_Missense_Mutation_p.R406Q|BCL6_ENST00000450123.2_Missense_Mutation_p.R406Q|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	406					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGTGTAGGCTCGTGGGGAAAG	0.612000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								11	122					0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666900	116666900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:116666900G>A	ENST00000369500.3	+	4	668	c.403G>A	c.(403-405)Gga>Aga	p.G135R	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	135										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GAACATCGACGGAGACATTGT	0.552000													24	42					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856613	90856613	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:90856613C>A	ENST00000394980.1	+	7	2101	c.1782C>A	c.(1780-1782)gaC>gaA	p.D594E	MMRN1_ENST00000264790.2_Missense_Mutation_p.D594E|MMRN1_ENST00000508372.1_Missense_Mutation_p.D336E|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	594					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATGTGAAGACATGTTATCCA	0.348000													19	33					7.07596e-05	7.5213e-05	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96140242	96140242	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:96140242G>C	ENST00000453304.1	-	9	1871	c.1523C>G	c.(1522-1524)tCg>tGg	p.S508W	UNC5C_ENST00000506749.1_Missense_Mutation_p.S527W	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	508					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCCAACAACGACTGGGTCAT	0.527000													33	45					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89805061	89805061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:89805061C>G	ENST00000389301.3	-	43	4346	c.4316G>C	c.(4315-4317)aGa>aCa	p.R1439T	FANCA_ENST00000568369.1_3'UTR|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1439					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGCCTGCTGTCTGCTCTGGAG	0.632000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	23					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374033	31374033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:31374033T>C	ENST00000268296.4	+	12	1439	c.1318T>C	c.(1318-1320)Tcc>Ccc	p.S440P	ITGAX_ENST00000562522.1_Missense_Mutation_p.S440P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	440					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCCAGGTGTCCAGGCAATG	0.652000													5	36					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144660267	144660267	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:144660267G>A	ENST00000449291.2	-	1	516	c.222C>T	c.(220-222)gaC>gaT	p.D74D	NAPRT1_ENST00000276844.7_Silent_p.D74D|NAPRT1_ENST00000435154.3_Silent_p.D74D|NAPRT1_ENST00000426292.3_Silent_p.D74D			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	74					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACTACCGGCGTCCCGCAGGC	0.726000													4	7					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134147635	134147635	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:134147635G>T	ENST00000389887.5	+	3	2687	c.191G>T	c.(190-192)cGa>cTa	p.R64L	GLB1L3_ENST00000431683.2_Missense_Mutation_p.R64L			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	64					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R64Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGAAGAATCGATCTGTGGGA	0.557000													5	16					0.0215528	0.0217676	1	1	0
LCORL	254251	broad.mit.edu	37	4	17974501	17974501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:17974501C>G	ENST00000326877.4	-	2	286	c.162G>C	c.(160-162)gaG>gaC	p.E54D	LCORL_ENST00000382224.1_5'UTR|LCORL_ENST00000382226.5_Missense_Mutation_p.E54D|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000539056.1_5'UTR	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTAAAATACTCTCAAAACCTG	0.294000													10	18					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67000659	67000659	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:67000659G>T	ENST00000303334.4	+	8	1024	c.953G>T	c.(952-954)gGc>gTc	p.G318V	CES3_ENST00000394037.1_Missense_Mutation_p.G318V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	318						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		ACCGTTGATGGCACTGTCTTC	0.537000													23	94					7.88262e-20	9.5092e-20	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55451444	55451444	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:55451444A>G	ENST00000446217.1	-	6	1229	c.827T>C	c.(826-828)aTc>aCc	p.I276T	NLRP7_ENST00000340844.2_Missense_Mutation_p.I248T|NLRP7_ENST00000590030.1_Missense_Mutation_p.I248T|NLRP7_ENST00000448121.2_Missense_Mutation_p.I248T|NLRP7_ENST00000328092.5_Missense_Mutation_p.I248T|NLRP7_ENST00000592784.1_Missense_Mutation_p.I248T|NLRP7_ENST00000588756.1_Missense_Mutation_p.I248T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	248	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CACGAACAGGATTCTCTGTGC	0.577000													94	93					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134738491	134738491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:134738491G>A	ENST00000292035.5	-	7	823	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	MED27_ENST00000357028.2_Nonsense_Mutation_p.Q218*	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	254					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TGGGGCAGCTGATAGTGGAGC	0.537000													16	19					0	0	1	0	0
SLC25A30	253512	broad.mit.edu	37	13	45980021	45980021	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:45980021C>G	ENST00000539591.1	-	3	314	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	102					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	p.E102*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		CACTCACCTTCTGGGCGTTCA	0.473000													14	27					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55359071	55359071	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:55359071G>C	ENST00000536015.1	-	12	1307	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L	ATP8B1_ENST00000283684.4_Silent_p.L396L|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	396					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCATGGTGTTGAGAACAATGA	0.463000													3	36					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876185	10876185	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:10876185G>A	ENST00000379491.4	-	4	668	c.521C>T	c.(520-522)gCc>gTc	p.A174V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	174					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTCTTGATGGCGCTTCTTCT	0.463000													26	64					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925098	89925098	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:89925098G>T	ENST00000405460.2	+	9	1677	c.1581G>T	c.(1579-1581)aaG>aaT	p.K527N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	527					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAACCAGAAGATTGAAAGCA	0.353000													8	13					0.000442599	0.000462372	1	1	0
PYGM	5837	broad.mit.edu	37	11	64525358	64525358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:64525358G>A	ENST00000164139.3	-	5	951	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	PYGM_ENST00000377432.3_Missense_Mutation_p.R97C	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	185					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTGCCGTAGCGAAGCCAGTCA	0.632000													6	22					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41513680	41513680	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:41513680C>G	ENST00000263253.7	+	2	1803	c.584C>G	c.(583-585)tCa>tGa	p.S195*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	195					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGAACGGTTCAATTGGAGCA	0.532000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048545	9048545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:9048545G>T	ENST00000397910.4	-	5	33289	c.33086C>A	c.(33085-33087)tCa>tAa	p.S11029*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11031	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAACAGTTGAGCTGGCTTC	0.488000													51	41					2.17126e-26	2.67232e-26	1	1	0
APOF	319	broad.mit.edu	37	12	56755363	56755363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:56755363C>G	ENST00000398189.3	-	2	704	c.627G>C	c.(625-627)aaG>aaC	p.K209N	APOF_ENST00000541105.1_Missense_Mutation_p.K191N	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	209					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GTTCCCTGGCCTTGCCCAGGC	0.552000													6	29					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046440	42046440	+	Silent	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:42046440G>C	ENST00000372584.1	-	3	5043	c.4029C>G	c.(4027-4029)gtC>gtG	p.V1343V	HIVEP3_ENST00000247584.5_Silent_p.V1343V|HIVEP3_ENST00000372583.1_Silent_p.V1343V|HIVEP3_ENST00000429157.2_Silent_p.V1343V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1343					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGACTGGGTGACCAAGATCT	0.552000													41	31					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36962431	36962431	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:36962431G>A	ENST00000300105.6	-	3	1386	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	135					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGCACTCAGGATGATGTTGT	0.567000													16	63					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19379720	19379720	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:19379720G>C	ENST00000263208.5	-	9	1096	c.840C>G	c.(838-840)atC>atG	p.I280M	HIRA_ENST00000340170.4_Missense_Mutation_p.I280M|HIRA_ENST00000546308.1_Missense_Mutation_p.I236M|HIRA_ENST00000541063.1_Missense_Mutation_p.I236M	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	280					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCTTTTTGAAGATTTTTGGGT	0.478000													9	47					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462253	66462253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:66462253G>A	ENST00000404260.3	+	29	7563	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	MAST4_ENST00000403625.2_Missense_Mutation_p.E2416K|MAST4_ENST00000403666.1_Missense_Mutation_p.E2227K|MAST4_ENST00000405643.1_Missense_Mutation_p.E2237K|MAST4_ENST00000261569.7_Missense_Mutation_p.E2222K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2419						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGGCTTCCCTGAGGCCAGAGG	0.652000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20787878	20787878	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:20787878A>G	ENST00000359062.3	+	8	1929	c.1889A>G	c.(1888-1890)aAc>aGc	p.N630S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	630					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACCAATAACAACAGTGACAGC	0.433000													3	50					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185931	127185931	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chrX:127185931C>A	ENST00000371124.3	-	1	451	c.255G>T	c.(253-255)atG>atT	p.M85I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	85						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGAGTTTCTCCATGTCATCCC	0.493000													134	49					1.56038e-73	1.98475e-73	1	1	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394313	39394313	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:39394313T>G	ENST00000254072.6	+	1	17	c.10T>G	c.(10-12)Tgt>Ggt	p.C4G		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	4						keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CATGACCCACTGTTGTTCCCC	0.577000													18	82					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34107326	34107326	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:34107326G>A	ENST00000331923.4	-	18	2878	c.2689C>T	c.(2689-2691)Cat>Tat	p.H897Y	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.H897N(1)									GACATAGCATGATCCAAAGCT	0.323000													6	78					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84642108	84642108	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:84642108G>A	ENST00000284136.6	-	15	1801	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	586					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTCTTCGATGTCCCAGCACT	0.393000													25	42					0	0	1	0	0
DUSP14	11072	broad.mit.edu	37	17	35872588	35872588	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:35872588G>C	ENST00000487847.1	+	2	1192	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	DUSP14_ENST00000394386.1_Missense_Mutation_p.E72Q|DUSP14_ENST00000394389.4_Missense_Mutation_p.E72Q			O95147	DUS14_HUMAN	dual specificity phosphatase 14	72							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				GCCCCAATTTGAGTATGTTAA	0.532000													21	62					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42507538	42507538	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:42507538G>A	ENST00000262895.3	-	18	2459	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	GRIK5_ENST00000593562.1_Silent_p.F820F|GRIK5_ENST00000301218.4_Silent_p.F820F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	820						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGACCGCCACGAAGACAGCAA	0.592000													16	61					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62398082	62398082	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:62398082C>T	ENST00000346178.4	-	12	1458	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	GANAB_ENST00000540933.1_Silent_p.K362K|GANAB_ENST00000534779.1_Silent_p.K367K|GANAB_ENST00000356638.3_Silent_p.K459K	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	459					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CCTTCCGCCTCTTAGAAGCCA	0.552000													4	75					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332824	31332824	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:31332824C>G	ENST00000544665.3	+	16	1952	c.1881C>G	c.(1879-1881)ttC>ttG	p.F627L	ITGAM_ENST00000287497.8_Missense_Mutation_p.F626L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	626					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCATGGAGTTCAATCCCAGGG	0.493000													119	137					0	0	1	0	0
PTTG1	9232	broad.mit.edu	37	5	159851272	159851272	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:159851272G>A	ENST00000393964.1	+	3	708	c.305G>A	c.(304-306)aGc>aAc	p.S102N	PTTG1_ENST00000520452.1_Missense_Mutation_p.S102N|PTTG1_ENST00000352433.5_Missense_Mutation_p.S102N|PTTG1_ENST00000519287.1_3'UTR	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		AAAGCAAAAAGCTCTGTTCCT	0.368000													29	54					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207399	58207399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:58207399G>A	ENST00000377918.3	+	1	745	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGACAACAGCCCGGTCTTC	0.597000													19	33					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390599	197390599	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:197390599G>T	ENST00000367400.3	+	6	1776	c.1641G>T	c.(1639-1641)caG>caT	p.Q547H	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.Q478H|CRB1_ENST00000543483.1_Missense_Mutation_p.Q246H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q435H|CRB1_ENST00000544212.1_Missense_Mutation_p.Q28H|CRB1_ENST00000538660.1_Missense_Mutation_p.Q547H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	547	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATCAATTCAGGTCAATAATC	0.453000													47	76					1.51926e-22	1.84741e-22	1	1	0
FBN1	2200	broad.mit.edu	37	15	48729537	48729537	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:48729537G>T	ENST00000316623.5	-	52	6816	c.6361C>A	c.(6361-6363)Cct>Act	p.P2121T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2121					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAATCATCAGGTCCCACGATG	0.423000													20	27					3.6726e-16	4.34425e-16	1	1	0
RIOK1	83732	broad.mit.edu	37	6	7404771	7404771	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:7404771C>T	ENST00000379834.2	+	10	1482	c.975C>T	c.(973-975)ctC>ctT	p.L325L		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	325	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATGCAGATCTCAGTGAATTTA	0.408000													34	174					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078715	170078715	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:170078715C>T	ENST00000458537.3	+	1	1305	c.596C>T	c.(595-597)tCa>tTa	p.S199L	SKIL_ENST00000426052.2_Missense_Mutation_p.S179L|SKIL_ENST00000413427.2_Missense_Mutation_p.S199L|SKIL_ENST00000259119.4_Missense_Mutation_p.S199L	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	199					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGTGTACTTCAGACCAGCTT	0.388000													4	152					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12817103	12817103	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:12817103A>T	ENST00000425528.1	-	15	1932	c.1575T>A	c.(1573-1575)ttT>ttA	p.F525L	TNPO2_ENST00000592287.1_Missense_Mutation_p.F525L|TNPO2_ENST00000588216.1_Missense_Mutation_p.F525L|TNPO2_ENST00000450764.2_Missense_Mutation_p.F525L|TNPO2_ENST00000356861.5_Missense_Mutation_p.F525L|TNPO2_ENST00000441499.1_Missense_Mutation_p.F525L			O14787	TNPO2_HUMAN	transportin 2	525					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCCAAAGGCAAAGACAAGGG	0.587000													10	30					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919496	57919496	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr12:57919496C>A	ENST00000355673.3	+	6	1101	c.745C>A	c.(745-747)Cat>Aat	p.H249N	MBD6_ENST00000431731.2_Missense_Mutation_p.H249N	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	249	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCGGCCCCTCATGCCTCCTC	0.622000													20	154					7.87624e-14	9.2447e-14	1	1	0
SEC14L1	6397	broad.mit.edu	37	17	75187337	75187337	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:75187337G>T	ENST00000413679.2	+	5	591	c.288G>T	c.(286-288)gaG>gaT	p.E96D	SEC14L1_ENST00000443798.4_Missense_Mutation_p.E96D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E96D|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E96D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E96D|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E62D|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E96D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E62D	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	96	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCACATTGAGGCTTATAATG	0.388000													79	131					2.08937e-45	2.64104e-45	1	1	0
EP300	2033	broad.mit.edu	37	22	41556674	41556674	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:41556674G>C	ENST00000263253.7	+	20	4838	c.3619G>C	c.(3619-3621)Gag>Cag	p.E1207Q		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1207					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTGTTTCAATGAGATCCAAGG	0.468000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				6	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760235	167760235	+	Silent	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:167760235G>T	ENST00000409195.1	+	2	332	c.243G>T	c.(241-243)gtG>gtT	p.V81V	XIRP2_ENST00000420519.1_Silent_p.V81V|XIRP2_ENST00000409756.2_Silent_p.V81V|XIRP2_ENST00000295237.9_Silent_p.V81V|XIRP2_ENST00000409043.1_Silent_p.V81V|XIRP2_ENST00000409728.1_Silent_p.V81V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGATTCTGTGGACAAGAGTA	0.517000													15	21					2.61681e-11	2.99628e-11	1	1	0
PARP4	143	broad.mit.edu	37	13	25030583	25030583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:25030583C>T	ENST00000381989.3	-	21	2563	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	PARP4_ENST00000480576.1_5'UTR	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	820					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAGCTGCCTTCCATGGTGCTA	0.458000													5	63					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114514601	114514601	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:114514601C>A	ENST00000369559.4	+	15	3330	c.3169C>A	c.(3169-3171)Ctg>Atg	p.L1057M	HIPK1_ENST00000340480.4_Intron|HIPK1_ENST00000369558.1_Intron|HIPK1_ENST00000406344.1_Intron|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000426820.2_Intron|HIPK1_ENST00000369553.1_Intron	NM_152696.3	NP_689909.2	Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	0	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTGCCTTCTGTTTGGGCC	0.507000													7	71					1.26484e-09	1.43208e-09	1	1	0
STXBP4	252983	broad.mit.edu	37	17	53084946	53084946	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:53084946G>A	ENST00000376352.2	+	8	861	c.654G>A	c.(652-654)gaG>gaA	p.E218E	STXBP4_ENST00000398391.2_Silent_p.E143E|STXBP4_ENST00000299341.4_Silent_p.E143E|STXBP4_ENST00000434978.2_Silent_p.E218E|STXBP4_ENST00000405898.1_Silent_p.E218E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	218						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTAAGGCAGAGAAACTGGAAA	0.383000													72	221					0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54948568	54948568	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:54948568C>G	ENST00000395909.4	-	9	1315	c.750G>C	c.(748-750)aaG>aaC	p.K250N	AURKA_ENST00000312783.6_Missense_Mutation_p.K250N|AURKA_ENST00000395914.1_Missense_Mutation_p.K250N|AURKA_ENST00000395915.3_Missense_Mutation_p.K250N|AURKA_ENST00000347343.2_Missense_Mutation_p.K250N|AURKA_ENST00000395907.1_Missense_Mutation_p.K250N|AURKA_ENST00000395913.3_Missense_Mutation_p.K250N|AURKA_ENST00000395911.1_Missense_Mutation_p.K250N|AURKA_ENST00000371356.2_Missense_Mutation_p.K250N	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	250	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GAATAACTCTCTTCGAATGAC	0.343000													9	139					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972605	235972605	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:235972605C>G	ENST00000389794.3	-	5	1687	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	LYST_ENST00000389793.2_Missense_Mutation_p.E505Q|LYST_ENST00000536965.1_Missense_Mutation_p.E505Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	505					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGAATATTCACATCGTCTG	0.373000													10	92					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156280933	156280933	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:156280933C>T	ENST00000295688.3	-	12	1489	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L	CCT3_ENST00000472765.2_Silent_p.L358L|CCT3_ENST00000368259.2_Silent_p.L365L|CCT3_ENST00000368261.3_Silent_p.L358L	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	403					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCTGAGGGTCCAGGAGAACAT	0.537000													26	40					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985412	33985412	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:33985412C>T	ENST00000373381.4	-	69	10912	c.10736G>A	c.(10735-10737)aGg>aAg	p.R3579K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3435						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCACGGTACCTGTGCTTGTA	0.622000													18	21					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3198862	3198862	+	Silent	SNP	C	C	T	rs150799648		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:3198862C>T	ENST00000246117.4	+	5	1094	c.663C>T	c.(661-663)atC>atT	p.I221I	NCLN_ENST00000590671.1_Silent_p.I147I	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	221					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCGTCATCGTGGCCCACT	0.657000													18	76					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12261010	12261010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:12261010G>A	ENST00000256194.4	+	17	2380	c.2092G>A	c.(2092-2094)Ggc>Agc	p.G698S	MICAL2_ENST00000527546.1_Missense_Mutation_p.G698S|MICAL2_ENST00000342902.5_Missense_Mutation_p.G698S|MICAL2_ENST00000379612.3_Missense_Mutation_p.G698S|MICAL2_ENST00000537344.1_Missense_Mutation_p.G698S	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	698						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCGTAGCTTGGGCTCCAATCA	0.502000													33	17					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288124	202288124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:202288124C>T	ENST00000367278.3	+	18	2782	c.2693C>T	c.(2692-2694)tCa>tTa	p.S898L	LGR6_ENST00000439764.2_Missense_Mutation_p.S759L|LGR6_ENST00000255432.7_Missense_Mutation_p.S846L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	898						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCTTCCCCTCAGTGACCCTC	0.617000													13	65					0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482377	54482377	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:54482377G>A	ENST00000317802.7	-	1	1032	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	304					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCTTGTTTCTGAAGTAAGGGT	0.468000													20	140					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74899191	74899191	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:74899191C>G	ENST00000289575.5	+	8	1378	c.983C>G	c.(982-984)tCt>tGt	p.S328C	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S184C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S101C|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S306C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S212C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S101C|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S73C|SLCO2B1_ENST00000526660.1_3'UTR	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	328					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGCAAGGACTCTCCCTCTAAG	0.552000													7	17					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594883	55594883	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:55594883C>T	ENST00000378397.1	+	1	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACTTTTTCCTCAGCCACTTGT	0.463000										HNSCC(27;0.073)			34	167					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188692	140188692	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140188692G>A	ENST00000530339.1	+	1	1920	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T640T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.T640T	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAAACGGACGCTCCGC	0.672000													12	66					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61122213	61122213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:61122213G>C	ENST00000277705.6	-	1	109	c.8C>G	c.(7-9)tCt>tGt	p.S3C	FAM13C_ENST00000422313.2_Missense_Mutation_p.S3C|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000435852.2_Missense_Mutation_p.S3C|FAM13C_ENST00000419214.2_Missense_Mutation_p.S3C|FAM13C_ENST00000373868.2_Missense_Mutation_p.S3C|FAM13C_ENST00000442566.3_Missense_Mutation_p.S3C|FAM13C_ENST00000468840.2_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	3										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGAAACAAGAAAACATCAG	0.483000													8	7					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914867	54914867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:54914867G>C	ENST00000474759.1	+	21	1937	c.1889G>C	c.(1888-1890)cGa>cCa	p.R630P	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R630P|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R536P|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R630P	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	630						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TATTTCTTCCGAGGGAATGTA	0.473000													27	157					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890151	139890151	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:139890151C>T	ENST00000303045.6	-	3	946	c.500G>A	c.(499-501)cGc>cAc	p.R167H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R167H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	167	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATGCCAGCGCGGTGGGCTGC	0.716000										HNSCC(7;0.00092)			3	13					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75613096	75613096	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:75613096G>C	ENST00000394893.1	+	10	1008	c.988G>C	c.(988-990)Gac>Cac	p.D330H	POR_ENST00000545601.1_Missense_Mutation_p.D138H|POR_ENST00000439269.1_Missense_Mutation_p.D68H|POR_ENST00000461988.1_Missense_Mutation_p.D330H|POR_ENST00000450476.1_Missense_Mutation_p.D229H|POR_ENST00000419840.1_Missense_Mutation_p.D144H			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	327	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CCCAGCCAACGACTCTGCTCT	0.632000													8	14					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777178	6777178	+	RNA	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:6777178C>T	ENST00000486256.1	+	0	1305					NR_002217.1																						CAGGAGAAAGCGCCTGAAACT	0.532000													4	164					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958227	176958227	+	Silent	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:176958227G>T	ENST00000392539.3	+	1	609	c.609G>T	c.(607-609)gtG>gtT	p.V203V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	203					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ACCAGCACGTGCCCGGCTATA	0.632000			T	NUP98	AML*								37	43					4.65686e-17	5.55171e-17	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10254594	10254594	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:10254594G>C	ENST00000340748.4	-	28	3151	c.2916C>G	c.(2914-2916)caC>caG	p.H972Q	DNMT1_ENST00000359526.4_Missense_Mutation_p.H988Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.H972Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	972	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ATTTCCGGTAGTGCTCTGGGT	0.547000													98	104					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38600631	38600631	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:38600631G>A	ENST00000309117.6	-	6	788	c.551C>T	c.(550-552)tCa>tTa	p.S184L	DSCR3_ENST00000399001.1_Missense_Mutation_p.S59L|DSCR3_ENST00000398998.1_Missense_Mutation_p.S136L|DSCR3_ENST00000539844.1_Missense_Mutation_p.S107L|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000288304.5_Silent_p.L141L|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000476950.1_Missense_Mutation_p.S157L	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	184					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACAGTTTGTTGAGTTGAGATG	0.517000													6	84					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60927405	60927405	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:60927405C>T	ENST00000252999.3	-	4	646	c.580G>A	c.(580-582)Gac>Aac	p.D194N	LAMA5_ENST00000370677.3_Missense_Mutation_p.D194N|LAMA5_ENST00000370692.3_Missense_Mutation_p.D194N	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	194	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAGACAGTCCCTCTTGGAG	0.687000													15	36					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129508	10129508	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:10129508G>C	ENST00000591589.1	+	3	613	c.424G>C	c.(424-426)Gtc>Ctc	p.V142L	RDH8_ENST00000171214.1_Missense_Mutation_p.V122L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	122					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGTCCGTCTCGTCAAAGCTGT	0.597000													34	29					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72536995	72536995	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr10:72536995G>T	ENST00000299290.1	-	7	993	c.604C>A	c.(604-606)Cgc>Agc	p.R202S	TBATA_ENST00000456372.2_Missense_Mutation_p.R202S	NM_152710.2	NP_689923			thymus, brain and testes associated																		TGAGATCTGCGGCGGCCGACA	0.627000													37	6					4.00102e-26	4.91438e-26	1	1	0
NCOA5	57727	broad.mit.edu	37	20	44698962	44698962	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:44698962C>G	ENST00000290231.6	-	3	416	c.252G>C	c.(250-252)gtG>gtC	p.V84V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	84	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAAGATCCCTCACGTCCCGAA	0.532000													21	156					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38867556	38867556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:38867556C>A	ENST00000359357.3	+	60	8671	c.8417C>A	c.(8416-8418)tCa>tAa	p.S2806*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S3023*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S2770*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGATTTCACGAATAATT	0.363000													18	141					7.45023e-12	8.56283e-12	1	1	0
MIOS	54468	broad.mit.edu	37	7	7612889	7612889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:7612889G>C	ENST00000340080.4	+	4	1204	c.783G>C	c.(781-783)ttG>ttC	p.L261F	MIOS_ENST00000405785.1_Missense_Mutation_p.L261F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	261										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCAGTTTTGACATTGACTG	0.413000													65	88					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075327	76075327	+	RNA	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:76075327G>T	ENST00000395215.3	+	0	967																											AAAAGTAGAGGCTCCAGGAGC	0.562000													8	50					3.09899e-07	3.39492e-07	1	1	0
EHMT2	10919	broad.mit.edu	37	6	31860481	31860481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr6:31860481C>A	ENST00000395728.3	-	5	868	c.869G>T	c.(868-870)gGa>gTa	p.G290V	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.G233V|EHMT2_ENST00000375537.4_Missense_Mutation_p.G233V|EHMT2_ENST00000375528.4_Missense_Mutation_p.G290V			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	233					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGCCACCTCCTGAGTTCAG	0.577000													8	44					2.74318e-10	3.12332e-10	1	1	0
QRICH1	54870	broad.mit.edu	37	3	49095286	49095286	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:49095286G>A	ENST00000395443.2	-	3	819	c.347C>T	c.(346-348)tCg>tTg	p.S116L	QRICH1_ENST00000424300.1_Missense_Mutation_p.S116L|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.S116L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	116	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTGAGCCGAGACCTGTTG	0.572000													5	54					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110922154	110922154	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:110922154C>A	ENST00000316534.4	-	8	955	c.882G>T	c.(880-882)agG>agT	p.R294S	NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000393272.3_Missense_Mutation_p.R294S			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	294					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATTCCATGCCCTGAACCCTG	0.383000													59	160					1.08141e-31	1.35009e-31	1	1	0
MCM8	84515	broad.mit.edu	37	20	5932671	5932671	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:5932671G>C	ENST00000378896.3	+	2	387	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	MCM8_ENST00000378883.1_Missense_Mutation_p.E4Q|MCM8_ENST00000378886.2_Missense_Mutation_p.E4Q|MCM8_ENST00000265187.4_Missense_Mutation_p.E4Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	4					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATGAATGGAGAGTATAGAGG	0.368000													17	72					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3820720	3820720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:3820720G>A	ENST00000262367.5	-	14	3540	c.2731C>T	c.(2731-2733)Caa>Taa	p.Q911*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q873*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	911					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCTGGGTTTGGGTAGCACTG	0.657000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						34	37					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64435001	64435001	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:64435001G>T	ENST00000265459.6	-	9	1980	c.1519C>A	c.(1519-1521)Ccc>Acc	p.P507T	NRXN2_ENST00000409571.1_Missense_Mutation_p.P500T|NRXN2_ENST00000377559.3_Missense_Mutation_p.P476T|NRXN2_ENST00000377551.1_Missense_Mutation_p.P507T	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	507	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCCAGCGGGGCAGCGCCACA	0.657000													20	25					0.00188189	0.00194922	1	1	0
PAX1	5075	broad.mit.edu	37	20	21687429	21687429	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:21687429G>C	ENST00000398485.2	+	2	694	c.640G>C	c.(640-642)Gtg>Ctg	p.V214L	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.V190L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	214	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TGTGCCTTCGGTGAGCTCCAT	0.642000													30	82					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164777732	164777732	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:164777732C>G	ENST00000264382.3	-	10	1166	c.1104G>C	c.(1102-1104)gtG>gtC	p.V368V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	368	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACTTCTTTCACTACATCTA	0.378000										HNSCC(35;0.089)			55	342					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196971611	196971611	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:196971611G>T	ENST00000367414.5	+	8	1275		c.e8-1		CFHR5_ENST00000256785.4_Splice_Site	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5						complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATATTTTGTAGAAAAAAGGGA	0.348000													4	57					0.00024832	0.000261209	1	1	0
UROC1	131669	broad.mit.edu	37	3	126220663	126220663	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:126220663C>T	ENST00000383579.3	-	10	1064	c.1031G>A	c.(1030-1032)gGc>gAc	p.G344D	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTGGAGAAGCCCGAGGGAGC	0.592000													33	25					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312041	48312041	+	Silent	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:48312041A>G	ENST00000435803.1	+	17	2802	c.2778A>G	c.(2776-2778)gcA>gcG	p.A926A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	926					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGGAATGCATCTGATCTTT	0.388000													4	76					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235062	73235062	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:73235062C>T	ENST00000377110.3	-	15	2266	c.2023G>A	c.(2023-2025)Gcc>Acc	p.A675T	TRPM3_ENST00000396285.1_Missense_Mutation_p.A522T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A534T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A534T|TRPM3_ENST00000358082.3_Missense_Mutation_p.A537T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A537T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A524T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A547T|TRPM3_ENST00000423814.3_Missense_Mutation_p.A702T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A679T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A547T|TRPM3_ENST00000377111.2_Missense_Mutation_p.A675T			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAGCCATGGCTTTGCAGAGC	0.582000													12	32					0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092653	18092653	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:18092653C>T	ENST00000222249.9	+	5	953	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GTGGACGGCGCGGCTGGCCTT	0.677000													18	18					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96140354	96140354	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:96140354G>A	ENST00000453304.1	-	9	1759	c.1411C>T	c.(1411-1413)Ctg>Ttg	p.L471L	UNC5C_ENST00000506749.1_Silent_p.L490L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	471					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTGGATCCAGAATTGGAGAG	0.522000													79	164					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38942465	38942465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:38942465C>T	ENST00000357387.3	-	38	5098	c.5068G>A	c.(5068-5070)Gag>Aag	p.E1690K	RICTOR_ENST00000296782.5_Missense_Mutation_p.E1714K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1690					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)					AACACAGCCTCTGCTTCTTCA	0.289000													7	116					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101474435	101474435	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:101474435A>T	ENST00000341893.3	+	7	1642	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	CEP97_ENST00000327230.4_Missense_Mutation_p.Q297L|CEP97_ENST00000494050.1_Missense_Mutation_p.Q297L			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	297						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGAGCAAACAGAGGTAAGCC	0.438000													31	53					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14863068	14863068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:14863068G>C	ENST00000285046.5	+	1	2600	c.2490G>C	c.(2488-2490)gaG>gaC	p.E830D	FGD5_ENST00000543601.1_Missense_Mutation_p.E589D	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	830					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACGCCTTTGAGAGCAAACAGC	0.522000													3	24					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212369	43212369	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:43212369G>A	ENST00000255226.6	+	5	1392	c.576G>A	c.(574-576)ctG>ctA	p.L192L	SLC14A2_ENST00000586448.1_Silent_p.L192L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	192						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGACTGCTGATGGCCGTGT	0.512000													8	114					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947435	237947435	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:237947435C>A	ENST00000366574.2	+	90	12740	c.12423C>A	c.(12421-12423)agC>agA	p.S4141R	RYR2_ENST00000542537.1_Missense_Mutation_p.S4125R|RYR2_ENST00000360064.6_Missense_Mutation_p.S4147R|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4141					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S4139S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGGGAAGCGCCAAACGCA	0.498000													17	62					2.48551e-13	2.90613e-13	1	1	0
MED28	80306	broad.mit.edu	37	4	17621584	17621584	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:17621584C>G	ENST00000237380.7	+	2	244	c.220C>G	c.(220-222)Cga>Gga	p.R74G		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						GGAAGAAATTCGAACCGGTAA	0.388000													4	54					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843424	2843424	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:2843424C>G	ENST00000380443.3	+	1	322	c.233C>G	c.(232-234)tCt>tGt	p.S78C	VPS16_ENST00000481812.2_Intron|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380445.3_Intron			Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	401					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAGGGAAGCTCTCTCCTATCG	0.632000													32	112					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852309	97852309	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:97852309C>G	ENST00000354565.2	+	1	768	c.768C>G	c.(766-768)ctC>ctG	p.L256L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GACCCCTTCTCTTCATTTATG	0.418000													63	76					0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153610861	153610861	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:153610861C>T	ENST00000368686.1	+	1	44	c.36C>T	c.(34-36)aaC>aaT	p.N12N	CHTOP_ENST00000368687.1_Silent_p.N27N|CHTOP_ENST00000368694.3_Silent_p.N52N|CHTOP_ENST00000403433.1_Silent_p.N52N|CHTOP_ENST00000368690.3_Silent_p.N52N|CHTOP_ENST00000495554.1_3'UTR			Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						GTGCCAGAAACAGAAGACTGG	0.493000													12	107					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30632431	30632431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:30632431G>A	ENST00000269051.4	+	7	867	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	RHBDL3_ENST00000536287.1_Missense_Mutation_p.V187I|RHBDL3_ENST00000538145.1_Missense_Mutation_p.V277I	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	285					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTATGCTCTCGTCTCTGCCCA	0.542000													10	94					0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114925	71114925	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:71114925C>A	ENST00000304954.3	+	4	384	c.298C>A	c.(298-300)Cca>Aca	p.P100T		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	100						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GCAATACCTGCCAAATAGCCA	0.458000													9	23					0.000978159	0.00101836	1	1	0
ABHD13	84945	broad.mit.edu	37	13	108881678	108881678	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr13:108881678C>T	ENST00000375898.3	+	2	413	c.112C>T	c.(112-114)Cat>Tat	p.H38Y		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	38						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGTGACTTTTCATCTGTATGG	0.373000													6	43					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145753371	145753371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:145753371G>A	ENST00000313465.5	-	2	417	c.242C>T	c.(241-243)tCc>tTc	p.S81F	C8orf82_ENST00000524821.1_Intron	NM_001001795.1	NP_001001795.1	Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	0										endometrium(1)|urinary_tract(1)	2						GCCCGGAAGGGAGAAAGAAGG	0.602000													52	25					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499330	75499330	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:75499330G>C	ENST00000360639.2	+	2	1261	c.941G>C	c.(940-942)gGg>gCg	p.G314A	C15orf39_ENST00000394987.4_Missense_Mutation_p.G314A|C15orf39_ENST00000567617.1_Missense_Mutation_p.G314A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	314										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGGGACCGGGTACCAGGCT	0.687000													14	21					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53281416	53281416	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:53281416G>C	ENST00000566029.1	+	16	3874		c.e16+1		CHD9_ENST00000398510.3_Splice_Site|CHD9_ENST00000447540.1_Splice_Site|CHD9_ENST00000564845.1_Splice_Site			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9						cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TACATAAAAGGTAAAGCATAC	0.353000													3	6					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344977	56344977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:56344977G>A	ENST00000526812.2	-	1	286	c.221C>T	c.(220-222)tCt>tTt	p.S74F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AACATTGGAAGAATAGCAAAT	0.458000													20	53					0	0	1	0	0
SLC25A25	114789	broad.mit.edu	37	9	130854306	130854306	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:130854306G>A	ENST00000373066.5	+	1	564	c.157G>A	c.(157-159)Gag>Aag	p.E53K	RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.E53K|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	99	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CGGAAGGGCTGAGGCCACGGA	0.572000													14	66					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927011	166927011	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:166927011A>T	ENST00000271417.3	-	2	429	c.374T>A	c.(373-375)gTt>gAt	p.V125D	ILDR2_ENST00000529071.1_Missense_Mutation_p.V125D|ILDR2_ENST00000469934.2_Missense_Mutation_p.V125D|ILDR2_ENST00000526687.1_Missense_Mutation_p.V125D|ILDR2_ENST00000525740.1_Missense_Mutation_p.V125D|ILDR2_ENST00000528703.1_Missense_Mutation_p.V125D|ILDR2_ENST00000529387.1_Missense_Mutation_p.V125D	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	125	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATTACCATGAACAATCGTGAT	0.453000													39	43					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590300	140590300	+	Silent	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:140590300C>G	ENST00000239450.2	+	1	2010	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L	PCDHB12_ENST00000541609.1_Silent_p.L270L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		607	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAGCTGCTCAAGGCCACGG	0.711000													11	96					0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80091571	80091571	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:80091571A>G	ENST00000398291.3	-	7	871	c.778T>C	c.(778-780)Tca>Cca	p.S260P	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	260					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GAGGTTGTTGAAAAATACTTG	0.358000													9	10					0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56448309	56448309	+	Silent	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:56448309A>T	ENST00000295645.4	-	2	204	c.102T>A	c.(100-102)gtT>gtA	p.V34V		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	34										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			GTAAACGTAAAACCATTTCTT	0.358000													17	24					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4882220	4882220	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:4882220C>T	ENST00000321919.9	-	5	373	c.297G>A	c.(295-297)acG>acA	p.T99T	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Silent_p.T99T|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Silent_p.T99T	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	99					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TGTGGGATGACGTCTGAAAGT	0.463000													9	81					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348998	30348998	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:30348998C>G	ENST00000327564.7	+	1	975	c.914C>G	c.(913-915)tCt>tGt	p.S305C	LRRC37B_ENST00000341671.7_Missense_Mutation_p.S278C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.S196C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S278C|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S290C			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	278						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATCCAGTCCTCTTCACTCCAG	0.552000													6	144					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42551076	42551076	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:42551076C>A	ENST00000381668.5	-	19	1837	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G521W	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	536					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCTTCCTGCCCCAGCTAAGAA	0.313000													11	41					2.80697e-09	3.16631e-09	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92732033	92732033	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:92732033G>A	ENST00000379958.2	-	3	3647	c.3378C>T	c.(3376-3378)gtC>gtT	p.V1126V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1126						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTTTTGTAGACTTGACCCA	0.368000													13	116					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29038998	29038998	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:29038998C>T	ENST00000257189.4	+	5	458	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	125	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTCCTAGATCACATGTCGGG	0.363000													7	54					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225068	79225068	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:79225068G>A	ENST00000288439.5	-	14	2635	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGACGATGCCGCAGGTGTTTA	0.502000													22	32					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843135	137843135	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:137843135T>A	ENST00000236709.3	-	3	1195	c.994A>T	c.(994-996)Act>Tct	p.T332S		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	332					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGCTCCCCAGTCACTGACCCC	0.498000													24	63					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101520547	101520547	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:101520547G>T	ENST00000422132.1	+	2	759	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F	NXPE3_ENST00000491511.2_Missense_Mutation_p.V188F|NXPE3_ENST00000273347.5_Missense_Mutation_p.V188F|NXPE3_ENST00000477909.1_Missense_Mutation_p.V188F					neurexophilin and PC-esterase domain family, member 3																		CGTATCTCTGGTCCACCCCAG	0.473000													22	40					1.28384e-07	1.41153e-07	1	1	0
LRBA	987	broad.mit.edu	37	4	151770593	151770593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:151770593G>A	ENST00000535741.1	-	25	4612	c.4139C>T	c.(4138-4140)tCa>tTa	p.S1380L	LRBA_ENST00000510413.1_Missense_Mutation_p.S1380L|LRBA_ENST00000507224.1_Missense_Mutation_p.S1380L|LRBA_ENST00000357115.3_Missense_Mutation_p.S1380L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1380						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTAGCAGCTGAAAGCAATGG	0.378000													15	95					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8038682	8038682	+	Silent	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:8038682C>T	ENST00000407627.2	-	4	486	c.357G>A	c.(355-357)caG>caA	p.Q119Q	ELAVL1_ENST00000593807.1_Silent_p.Q119Q|ELAVL1_ENST00000596459.1_Silent_p.Q119Q|ELAVL1_ENST00000351593.5_Silent_p.Q146Q	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	119	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTACGTCCTTCTGGGTCATGG	0.582000													9	33					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243762	119243762	+	Silent	SNP	T	T	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:119243762T>C	ENST00000260187.2	-	2	723	c.429A>G	c.(427-429)caA>caG	p.Q143Q	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	143	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCAGGTCTGATTGGCTGTCCA	0.617000													27	60					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186442900	186442900	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:186442900C>A	ENST00000265023.4	+	4	627	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q139K|KNG1_ENST00000447445.1_Missense_Mutation_p.Q139K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	139	Cystatin 2.|O-glycosylated at one site only.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GGTGACAGCCCAGTACGACTG	0.493000													27	17					4.7796e-09	5.36162e-09	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85445776	85445776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:85445776G>A	ENST00000316356.4	-	7	1160	c.596C>T	c.(595-597)tCa>tTa	p.S199L	SYTL2_ENST00000527523.1_Missense_Mutation_p.S150L|SYTL2_ENST00000524452.1_Missense_Mutation_p.S198L|SYTL2_ENST00000528231.1_Missense_Mutation_p.S198L|SYTL2_ENST00000389960.4_Missense_Mutation_p.S198L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	198					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTGACTCTGACAATTCATC	0.328000													29	27					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134873066	134873066	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:134873066C>A	ENST00000398015.3	+	6	1740	c.1370C>A	c.(1369-1371)cCg>cAg	p.P457Q	EPHB1_ENST00000493838.1_Missense_Mutation_p.P18Q	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGCCACAGCCGGAGCAGCCC	0.562000													38	104					1.07637e-12	1.24416e-12	1	1	0
LILRB4	11006	broad.mit.edu	37	19	55176608	55176608	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:55176608C>A	ENST00000391736.1	+	8	1049	c.734C>A	c.(733-735)cCt>cAt	p.P245H	LILRB4_ENST00000391733.3_Missense_Mutation_p.P245H|LILRB4_ENST00000391734.3_Missense_Mutation_p.P245H|LILRB4_ENST00000270452.2_Missense_Mutation_p.P245H|LILRB4_ENST00000430952.2_Missense_Mutation_p.P245H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	245						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCCTCATGCCTACAGGGTCA	0.642000													10	6					1.08611e-07	1.19629e-07	1	1	0
CASC4	113201	broad.mit.edu	37	15	44705539	44705539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:44705539G>A	ENST00000299957.6	+	10	1545	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.E360K	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	191						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TACAGATGATGAAGAACGAGA	0.323000													5	63					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44066396	44066396	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:44066396C>A	ENST00000319359.3	-	9	1663	c.1022G>T	c.(1021-1023)gGa>gTa	p.G341V	RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	341					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TTCTGGAGTTCCTCGCCGAAC	0.498000													6	65					0.0293803	0.029624	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76447593	76447593	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:76447593G>A	ENST00000389840.5	-	66	10774	c.10650C>T	c.(10648-10650)gcC>gcT	p.A3550A	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3559A					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACCACAGCGGCCAAGAGTT	0.582000													48	70					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2946457	2946457	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:2946457C>T	ENST00000396946.4	-	25	3683	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1094	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCCGTCTCAGGTCGGGGC	0.682000			Mis		DLBCL								7	27					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967542	57967542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:57967542G>C	ENST00000321039.3	-	1	312	c.313C>G	c.(313-315)Cag>Gag	p.Q105E	AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Missense_Mutation_p.Q70E	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	105					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCCATTGTCTGAGGTATCCCT	0.438000													45	49					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244110	56244110	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:56244110T>A	ENST00000332836.2	-	2	1114	c.1087A>T	c.(1087-1089)Aac>Tac	p.N363Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	363	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAGGTGGTGTTTTGGGAGTTT	0.428000													115	104					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17297197	17297197	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:17297197G>T	ENST00000375541.5	+	35	5788	c.5719G>T	c.(5719-5721)Gac>Tac	p.D1907Y		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1907					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGGCCGCCTGGACCGCACCCT	0.657000													5	4					4.096e-09	4.61179e-09	1	1	0
APOB	338	broad.mit.edu	37	2	21238038	21238038	+	Silent	SNP	A	A	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:21238038A>T	ENST00000233242.1	-	23	3730	c.3603T>A	c.(3601-3603)ccT>ccA	p.P1201P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1201					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCAAGCTCTTAGGATAATCGG	0.398000													53	61					0	0	1	0	0
CST7	8530	broad.mit.edu	37	20	24930144	24930144	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:24930144G>A	ENST00000376835.2	+	1	279	c.69G>A	c.(67-69)atG>atA	p.M23I	CST7_ENST00000480798.1_Start_Codon_SNP_p.M1I			O76096	CYTF_HUMAN	cystatin F (leukocystatin)	1					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						GGGCAGCCATGCGAGCGGCTG	0.682000													10	62					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39082781	39082781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr4:39082781G>A	ENST00000261425.3	+	4	777	c.625G>A	c.(625-627)Gag>Aag	p.E209K	KLHL5_ENST00000508137.2_Missense_Mutation_p.E68K|KLHL5_ENST00000359687.2_Missense_Mutation_p.E255K|KLHL5_ENST00000504108.1_Missense_Mutation_p.E255K|KLHL5_ENST00000261426.5_Missense_Mutation_p.E194K|KLHL5_ENST00000381930.3_Missense_Mutation_p.E255K	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	255						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGATGTCAGAGAGGCAAGACA	0.378000													4	104					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49175854	49175854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:49175854C>T	ENST00000340334.7	-	17	2137	c.1769G>A	c.(1768-1770)aGa>aAa	p.R590K	FOLH1_ENST00000343844.4_Missense_Mutation_p.R297K|FOLH1_ENST00000533034.1_Missense_Mutation_p.R590K|FOLH1_ENST00000356696.3_Missense_Mutation_p.R605K|FOLH1_ENST00000256999.2_Missense_Mutation_p.R605K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	605					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGCATACTTTCTTAAAACTAC	0.393000													30	68					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5932726	5932726	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:5932726G>C	ENST00000378896.3	+	2	442	c.65G>C	c.(64-66)aGa>aCa	p.R22T	MCM8_ENST00000378883.1_Missense_Mutation_p.R22T|MCM8_ENST00000378886.2_Missense_Mutation_p.R22T|MCM8_ENST00000265187.4_Missense_Mutation_p.R22T	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	22					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AAAAGGGGAAGAGGTGGTGGG	0.428000													6	130					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51205763	51205763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:51205763C>T	ENST00000293441.1	-	11	1726	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	SHANK1_ENST00000359082.3_Missense_Mutation_p.E570K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E570K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	570	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATCTCCCCCTCGGCTTGGGCC	0.667000													9	31					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581515	56581515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:56581515G>A	ENST00000323456.5	-	14	1676	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	518	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGCTTCTCTCGCTCACAGGGG	0.537000													16	130					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739310	62739310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:62739310G>A	ENST00000371153.4	-	3	1844	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	489										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGTACAGAGGAGGTAAGGAC	0.572000													13	84					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5046911	5046911	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:5046911A>C	ENST00000251170.7	+	8	1016	c.836A>C	c.(835-837)gAc>gCc	p.D279A		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	279						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TTCCACCTGGACAAGGCCCGG	0.577000													16	22					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560135	44560135	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr18:44560135C>A	ENST00000332567.4	-	1	1853	c.1501G>T	c.(1501-1503)Gct>Tct	p.A501S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	501	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGAAAGCAGCTTCCTCCCGG	0.607000													9	81					1.12685e-05	1.21261e-05	1	1	0
ALLC	55821	broad.mit.edu	37	2	3718758	3718758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:3718758C>T	ENST00000252505.3	+	2	173	c.11C>T	c.(10-12)gCa>gTa	p.A4V		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	23							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATGGACATGGCATCTGAATCC	0.557000										HNSCC(21;0.051)			8	9					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21788284	21788284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:21788284G>C	ENST00000328843.6	+	53	8649	c.8618G>C	c.(8617-8619)aGg>aCg	p.R2873T	DNAH11_ENST00000409508.3_Missense_Mutation_p.R2866T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2873	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCTTGTCCAGGCTGGCAGCT	0.572000									Kartagener syndrome				23	51					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553776	19553776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr14:19553776G>A	ENST00000409832.3	+	1	412	c.360G>A	c.(358-360)tgG>tgA	p.W120*		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	120										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGGCCCTTGGGGAGACTACG	0.597000													44	366					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55523735	55523735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:55523735G>A	ENST00000302118.5	+	8	1497	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.E203K	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	403	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCTGTCTGCCGAGCCGGAGCT	0.612000													9	51					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510461	169510461	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:169510461G>A	ENST00000367796.3	-	13	4083	c.3882C>T	c.(3880-3882)ttC>ttT	p.F1294F	F5_ENST00000367797.3_Silent_p.F1289F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTGTCTGGCTGAAGTCTAGAG	0.517000													21	251					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139826	50139826	+	Silent	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr20:50139826G>A	ENST00000371564.3	-	2	1173	c.954C>T	c.(952-954)atC>atT	p.I318I	NFATC2_ENST00000610033.1_Silent_p.I99I|NFATC2_ENST00000414705.1_Silent_p.I298I|NFATC2_ENST00000609507.1_Silent_p.I99I|NFATC2_ENST00000396009.3_Silent_p.I318I|NFATC2_ENST00000609943.1_Silent_p.I298I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	318					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCTTGGGGGGGATCCCACAAG	0.692000													5	42					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183917	60183917	+	Silent	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr11:60183917C>A	ENST00000300187.6	+	5	1753	c.1476C>A	c.(1474-1476)acC>acA	p.T492T	MS4A14_ENST00000395005.2_Silent_p.T475T|MS4A14_ENST00000531787.1_Silent_p.T380T|MS4A14_ENST00000531783.1_Silent_p.T525T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	492	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACCAGCAAACCAAAGCCTTGC	0.423000													37	62					1.07637e-12	1.24416e-12	1	1	0
RBL2	5934	broad.mit.edu	37	16	53487411	53487411	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr16:53487411C>G	ENST00000262133.6	+	6	951	c.814C>G	c.(814-816)Ccc>Gcc	p.P272A	RBL2_ENST00000544545.1_Missense_Mutation_p.P56A|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	272					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCCTCTGACCCCCCTTGTAT	0.378000													28	129					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125617570	125617570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:125617570G>C	ENST00000373670.1	-	14	3308	c.2708C>G	c.(2707-2709)tCa>tGa	p.S903*	RC3H2_ENST00000357244.2_Nonsense_Mutation_p.S903*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.S903*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	903						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACCCCATTTTGAGATGATGGG	0.453000													8	30					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123388672	123388672	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr7:123388672C>A	ENST00000223023.4	-	1	449	c.117G>T	c.(115-117)gtG>gtT	p.V39V		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	39	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCCACTGACCACACATTTCT	0.687000													10	21					0.0135373	0.0137637	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185902757	185902757	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:185902757C>G	ENST00000271588.4	+	11	1858	c.1629C>G	c.(1627-1629)atC>atG	p.I543M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I543M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	543	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATGTCTCATCATCAGTGCGG	0.463000													10	79					0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325025	52325025	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:52325025G>A	ENST00000354773.4	+	3	523	c.427G>A	c.(427-429)Gag>Aag	p.E143K	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Missense_Mutation_p.E143K|GLYCTK_ENST00000305690.8_Missense_Mutation_p.E143K|GLYCTK_ENST00000461183.1_Missense_Mutation_p.E59K|GLYCTK_ENST00000471180.1_Missense_Mutation_p.E16K|GLYCTK_ENST00000436784.2_Missense_Mutation_p.E143K|GLYCTK_ENST00000473032.1_Missense_Mutation_p.E143K	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	143					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CGAGGGTGCGGAGGACAACCT	0.627000													6	38					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39065009	39065009	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:39065009C>T	ENST00000295373.6	-	13	2632	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	836	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACAATCCACTCTAATAAGGCC	0.388000													37	59					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91784691	91784691	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:91784691A>G	ENST00000370425.3	-	25	2854	c.2756T>C	c.(2755-2757)tTt>tCt	p.F919S	HFM1_ENST00000294696.5_Missense_Mutation_p.F151S|HFM1_ENST00000370424.3_Missense_Mutation_p.F598S|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	919	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTACACCTAAAACATTTAGC	0.348000													13	49					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15747979	15747979	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr21:15747979T>A	ENST00000285667.3	-	4	809	c.742A>T	c.(742-744)Atg>Ttg	p.M248L	HSPA13_ENST00000544452.1_Missense_Mutation_p.M40L	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	248						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTACCAGACATTGCTCGGGTT	0.537000													35	69					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327175	57327175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:57327175C>G	ENST00000326441.9	-	10	2998	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E879Q|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E753Q|PEG3_ENST00000598410.1_Missense_Mutation_p.E755Q|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	879					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAGGGTTCTCTCTGGCAGGA	0.438000													4	184					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs11278152		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000429204.1	-	2	603_611	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000272117.3_In_Frame_Del_p.92_95SSGS>S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													6	13	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	50724640	50724640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr2:50724640delC	ENST00000404971.1	-	15	4169	c.2830delG	c.(2830-2832)gcafs	p.A944fs	NRXN1_ENST00000406316.2_Frame_Shift_Del_p.A904fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.A904fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.A904fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.A896fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.A896fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	904	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACAGGATCTGCTATGATGTTC	0.413													16	21	---	---	---	---					
BCHE	590	broad.mit.edu	37	3	165548141	165548141	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr3:165548141delT	ENST00000264381.3	-	2	847	c.681delA	c.(679-681)gcafs	p.A227fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	227			A -> V (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAGCTGCTCCTGCACTTTCTC	0.443													46	43	---	---	---	---					
MIER3	166968	broad.mit.edu	37	5	56219568	56219568	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr5:56219568delG	ENST00000381226.3	-	12	1175	c.1160delC	c.(1159-1161)cctfs	p.P387fs	MIER3_ENST00000409421.1_Frame_Shift_Del_p.P319fs|MIER3_ENST00000381213.3_Frame_Shift_Del_p.P381fs|MIER3_ENST00000381199.3_Frame_Shift_Del_p.P382fs|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CTGTTGATCAGGAATAGGCTC	0.413													19	104	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del		NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													2	4	---	---	---	---					
NUP188	23511	broad.mit.edu	37	9	131715088	131715088	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr9:131715088delC	ENST00000372577.2	+	3	145	c.124delC	c.(124-126)cgafs	p.R42fs	NUP188_ENST00000550219.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Frame_Shift_Del_p.G62fs	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	42					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACATTGGCGGCGATTGTTAGA	0.398													12	60	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256778	69256783	+	In_Frame_Del	DEL	GGTGTG	GGTGTG	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr14:69256778_69256783delGGTGTG	ENST00000439696.2	-	2	785_790	c.484_489delCACACC	c.(484-489)cacaccdel	p.HT162del	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_In_Frame_Del_p.HT162del	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	162					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AAAAGCCGATGGTGTGGAAGGTGCGG	0.670											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	29	---	---	---	---					
KCNK10	54207	broad.mit.edu	37	14	88652467	88652467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr14:88652467delC	ENST00000340700.5	-	7	1480	c.1029delG	c.(1027-1029)tggfs	p.W343fs	KCNK10_ENST00000312350.5_Frame_Shift_Del_p.W348fs|KCNK10_ENST00000319231.5_Frame_Shift_Del_p.W348fs	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	343					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CATTGGCCTTCCACTCTGCCG	0.607													10	4	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57526295	57526296	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:57526295_57526296insT	ENST00000267811.5	+	12	1329_1330	c.1025_1026insT	c.(1024-1029)gctttgfs	p.L343fs	TCF12_ENST00000557843.1_Frame_Shift_Ins_p.L343fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.L339fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.L173fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.L343fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.L107fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.L173fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.L343fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	343					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.K337fs*6(1)|p.K341fs*6(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)		CTTGGAAAGGCTTTGGCATCTG	0.356			T	TEC	extraskeletal myxoid chondrosarcoma								12	73	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74625627	74625627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:74625627delA	ENST00000321288.5	+	19	2613	c.2613delA	c.(2611-2613)ccafs	p.P871fs	CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Intron|CCDC33_ENST00000268082.4_Frame_Shift_Del_p.P261fs			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	849							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGCATGGCCCAGGCCACTCAG	0.637													2	4	---	---	---	---					
ZNF710	374655	broad.mit.edu	37	15	90611643	90611646	+	Frame_Shift_Del	DEL	ACCT	ACCT	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr15:90611643_90611646delACCT	ENST00000268154.4	+	2	1525_1528	c.1274_1277delACCT	c.(1273-1278)cacctgfs	p.HL425fs		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CTCAAGCGCCACCTGGCCTCCCAC	0.623													27	31	---	---	---	---					
MINK1	50488	broad.mit.edu	37	17	4790980	4790982	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:4790980_4790982delGCA	ENST00000355280.6	+	12	1321_1323	c.1125_1127delGCA	c.(1123-1128)ctgcag>ctg	p.Q380del	MINK1_ENST00000347992.7_In_Frame_Del_p.Q380del|MINK1_ENST00000453408.3_In_Frame_Del_p.Q380del	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	380					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						agcagcagctgcagcagcagcag	0.606													2	4	---	---	---	---					
UBE2O	63893	broad.mit.edu	37	17	74387073	74387083	+	Frame_Shift_Del	DEL	CGGAACTGCGT	CGGAACTGCGT	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:74387073_74387083delCGGAACTGCGT	ENST00000319380.7	-	18	3884_3894	c.3820_3830delACGCAGTTCCG	c.(3820-3831)acgcagttccggfs	p.TQFR1274fs		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1274							ATP binding|ubiquitin-protein ligase activity	p.R1277W(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAGGGCAGCCCGGAACTGCGTCAGGACACCC	0.611													30	145	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76814848	76814850	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr17:76814848_76814850delCTT	ENST00000542802.3	-	10	1365_1367	c.922_924delAAG	c.(922-924)aagdel	p.K308del	USP36_ENST00000449938.2_In_Frame_Del_p.K8del|USP36_ENST00000588467.1_5'UTR|USP36_ENST00000312010.6_In_Frame_Del_p.K308del			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGGCTGGAACCTTCTTCTTGCAT	0.443													27	49	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13319694	13319696	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr19:13319694_13319696delTGG	ENST00000360228.5	-	46	6653_6655	c.6654_6656delCCA	c.(6652-6657)caccat>cat	p.2218_2219HH>H	CACNA1A_ENST00000573710.2_In_Frame_Del_p.2219_2220HH>H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2219	Poly-His.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGCGGGGGAtggtggtggtggt	0.734													3	6	---	---	---	---					
IGLJ3	28831	broad.mit.edu	37	22	23247131	23247131	+	RNA	DEL	C	C	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:23247131delC	ENST00000390324.2	+	0	102																											CTAGGGGCATCCCAGGGAGGG	0.617													62	68	---	---	---	---					
SGSM1	129049	broad.mit.edu	37	22	25202313	25202313	+	Splice_Site	DEL	T	T	-			TCGA-DK-AA6U-01A-11D-A391-08	TCGA-DK-AA6U-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c335b7-2ee4-4370-acca-ba3fa9dbcc45	c083066b-d113-4e03-a760-f1e0865b8dd2	g.chr22:25202313delT	ENST00000400358.4	+	1	76		c.e1+2		SGSM1_ENST00000470591.1_Splice_Site|SGSM1_ENST00000400359.4_Splice_Site	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1							Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCCCGCGGGTAAGAGGCCGC	0.766													2	4	---	---	---	---					
