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
COCH	1690	broad.mit.edu	37	14	31355424	31355424	+	Silent	SNP	A	A	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:31355424A>C	ENST00000460581.2	+	9	1593	c.1047A>C	c.(1045-1047)atA>atC	p.I349I	COCH_ENST00000475087.1_Silent_p.I461I|COCH_ENST00000382493.4_Silent_p.I312I|COCH_ENST00000216361.4_Silent_p.I461I|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Silent_p.I461I|RP11-829H16.3_ENST00000556786.1_RNA			O43405	COCH_HUMAN	cochlin	461					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTGGCCCTATAAGGGAGAGCC	0.478000													28	62					0	0	0.108266	0	0
CUL4B	8450	broad.mit.edu	37	X	119678408	119678408	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:119678408C>T	ENST00000371322.5	-	6	1072	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	CUL4B_ENST00000404115.3_Silent_p.E355E|CUL4B_ENST00000336592.6_Silent_p.E342E	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	355					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCTTTCCCTCTCAATCAAGA	0.363000													21	70					0	0	0.062417	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121789	117121789	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:117121789G>A	ENST00000310357.3	-	4	1527	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Silent_p.I327I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	502					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATCTGGGATGATGAAGACAT	0.393000													33	51					0	0	0.069456	0	0
CDH13	1012	broad.mit.edu	37	16	83816885	83816885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:83816885C>T	ENST00000566620.1	+	13	2232	c.1942C>T	c.(1942-1944)Caa>Taa	p.Q648*	CDH13_ENST00000268613.10_Nonsense_Mutation_p.Q695*|CDH13_ENST00000428848.3_Nonsense_Mutation_p.Q609*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	648	Cadherin 5.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGCCTTCTTCAAAATCTGAA	0.453000													5	23					0	0	0.021553	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541059	133541059	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:133541059C>G	ENST00000409261.1	-	14	3698	c.3325G>C	c.(3325-3327)Gag>Cag	p.E1109Q	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1109Q|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1109	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATGGTGACTCATTTACCCCT	0.488000													69	232					0	0	0.139131	0	0
ZNF382	84911	broad.mit.edu	37	19	37100898	37100898	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:37100898C>G	ENST00000435416.1	+	1	1577	c.82C>G	c.(82-84)Cag>Gag	p.Q28E	ZNF382_ENST00000439428.1_Missense_Mutation_p.Q27E|ZNF382_ENST00000423582.1_Intron|ZNF382_ENST00000292928.2_Missense_Mutation_p.Q28E			Q96SR6	ZN382_HUMAN	zinc finger protein 382	28	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGACCCTGCTCAGAAGGCGCT	0.478000													23	74					0	0	0.062417	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081564	143081564	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:143081564G>C	ENST00000367603.2	-	9	6603	c.5861C>G	c.(5860-5862)cCc>cGc	p.P1954R	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1954R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1954R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AACCCCGTGGGGTACGGCGCC	0.478000													15	40					0	0	0.160694	0	0
EMR1	2015	broad.mit.edu	37	19	6937389	6937389	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:6937389C>T	ENST00000312053.4	+	19	2554	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F	EMR1_ENST00000381404.4_Silent_p.F820F|EMR1_ENST00000450315.3_Silent_p.F662F|EMR1_ENST00000381407.5_Silent_p.F698F|EMR1_ENST00000250572.8_Silent_p.F774F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	839					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGGGGGCCTTCATCTTCCTCA	0.612000													18	95					0	0	0.043863	0	0
ALPK2	115701	broad.mit.edu	37	18	56171257	56171257	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:56171257C>G	ENST00000361673.3	-	11	6366	c.6153G>C	c.(6151-6153)ttG>ttC	p.L2051F		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2051	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTCTCTTCTCAAGAAGTTTA	0.478000													36	142					0	0	0.183431	0	0
RPH3A	22895	broad.mit.edu	37	12	113303345	113303345	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:113303345G>C	ENST00000389385.4	+	6	854	c.357G>C	c.(355-357)aaG>aaC	p.K119N	RPH3A_ENST00000551052.1_Missense_Mutation_p.K115N|RPH3A_ENST00000548866.1_Missense_Mutation_p.K70N|RPH3A_ENST00000543106.2_Missense_Mutation_p.K119N|RPH3A_ENST00000415485.3_Missense_Mutation_p.K119N|RPH3A_ENST00000420983.2_Missense_Mutation_p.K119N|RPH3A_ENST00000447659.2_Missense_Mutation_p.K70N	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	119	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGGACTGTAAGAAGGTATCAT	0.562000													15	51					0	0	0.132662	0	0
SCN10A	6336	broad.mit.edu	37	3	38738878	38738878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:38738878C>A	ENST00000449082.2	-	27	5832	c.5833G>T	c.(5833-5835)Gaa>Taa	p.E1945*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1945					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGGTGGCTTCATCTTCATTT	0.478000													26	73					4.26978e-12	4.70184e-12	0.083992	1	0
TPRA1	131601	broad.mit.edu	37	3	127294624	127294624	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:127294624T>C	ENST00000355552.3	-	8	1014	c.638A>G	c.(637-639)aAg>aGg	p.K213R	TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000489960.1_Missense_Mutation_p.K213R|TPRA1_ENST00000450633.2_Missense_Mutation_p.K213R	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	213					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						CAGCGGGGTCTTGGGAAGGAT	0.647000													3	71					0	0	0.115264	0	0
B4GALT5	9334	broad.mit.edu	37	20	48330165	48330165	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:48330165G>A	ENST00000371711.4	-	1	250	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	21					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AGAGAGAAAAGAAGAAGAGCG	0.716000													3	8					0	0	0.115264	0	0
SETBP1	26040	broad.mit.edu	37	18	42530706	42530706	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:42530706G>A	ENST00000282030.5	+	4	1697	c.1401G>A	c.(1399-1401)ttG>ttA	p.L467L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	467						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCTAAGTTGAGTAAAATGA	0.478000									Schinzel-Giedion syndrome				25	79					0	0	0.099896	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890245	159890245	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:159890245C>G	ENST00000368097.4	-	2	365	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	TAGLN2_ENST00000320307.4_Missense_Mutation_p.E19Q|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E40Q|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	19					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTGTTTCTCAATCTTCTGC	0.597000													15	46					0	0	0.132662	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150629	68150629	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:68150629G>A	ENST00000262215.3	-	22	3627	c.3238C>T	c.(3238-3240)Ctt>Ttt	p.L1080F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L534F|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1080					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTCCAGTAAGAGATCCTTCT	0.408000													17	55					0	0	0.175082	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522976	55522976	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:55522976C>T	ENST00000436346.1	-	31	6149	c.5308G>A	c.(5308-5310)Gcg>Acg	p.A1770T	CCDC88A_ENST00000263630.8_Missense_Mutation_p.A1742T|CCDC88A_ENST00000422883.2_Missense_Mutation_p.A271T|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000336838.6_Missense_Mutation_p.A1769T	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1770					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GGTTTTCCCGCAGAACTAATG	0.403000													20	50					0	0	0.043863	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31711739	31711739	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:31711739C>T	ENST00000493662.2	+	6	530	c.474C>T	c.(472-474)gcC>gcT	p.A158A	MSH5_ENST00000534153.4_Silent_p.A158A|MSH5_ENST00000375740.3_Silent_p.A158A|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Silent_p.A158A|MSH5_ENST00000375742.3_Silent_p.A158A|MSH5_ENST00000375750.3_Silent_p.A158A|MSH5_ENST00000375755.3_Silent_p.A158A																							TCCCAGACGCCATGACTGCCA	0.517000													45	624					0	0	0.131918	0	0
HELQ	113510	broad.mit.edu	37	4	84374727	84374727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr4:84374727C>T	ENST00000295488.3	-	2	831	c.669G>A	c.(667-669)tgG>tgA	p.W223*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W223*	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	223							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGGATGACTTCCAATCCCTTT	0.393000								Other identified genes with known or suspected DNA repair function					14	89					0	0	0.146539	0	0
RASGRF1	5923	broad.mit.edu	37	15	79323749	79323749	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:79323749G>C	ENST00000419573.3	-	8	1529	c.1255C>G	c.(1255-1257)Ctg>Gtg	p.L419V	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.L419V	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	419	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CACCTGGACAGCTCCTCCAGT	0.622000													6	10					0	0	0.021553	0	0
MUC17	140453	broad.mit.edu	37	7	100687057	100687057	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:100687057G>C	ENST00000306151.4	+	3	12424	c.12360G>C	c.(12358-12360)aaG>aaC	p.K4120N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4120						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)					CTACAATTAAGAGCAACCCCA	0.463000													4	106					0	0	0.150653	0	0
PTDSS1	9791	broad.mit.edu	37	8	97311998	97311998	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:97311998A>G	ENST00000517309.1	+	6	1003	c.677A>G	c.(676-678)aAt>aGt	p.N226S	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.N80S|PTDSS1_ENST00000522072.1_Missense_Mutation_p.N23S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	226					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTGTTGTGCAATGGCGGTGGC	0.493000													38	162					0	0	0.064281	0	0
PIH1D1	55011	broad.mit.edu	37	19	49950696	49950696	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:49950696G>T	ENST00000262265.5	-	6	745	c.510C>A	c.(508-510)ttC>ttA	p.F170L	PIH1D1_ENST00000596049.1_Missense_Mutation_p.F170L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	170					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		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;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TGGAGCCCATGAATGGCCGGT	0.637000													13	67					1.5842e-08	1.7139e-08	0.105934	1	0
SNX9	51429	broad.mit.edu	37	6	158330983	158330983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:158330983G>A	ENST00000392185.3	+	9	1046	c.875G>A	c.(874-876)tGg>tAg	p.W292*		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	292	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CACTTTGACTGGTTATATGAG	0.408000													22	42					0	0	0.062417	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	45					0	0	0.119110	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44751319	44751319	+	Nonsense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:44751319C>G	ENST00000260327.4	+	2	670	c.107C>G	c.(106-108)tCa>tGa	p.S36*	CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.S36*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.S36*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.S36*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	36							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCCTGCCTTCAGGAGGAGAA	0.393000													30	75					0	0	0.183431	0	0
CCKAR	886	broad.mit.edu	37	4	26483452	26483452	+	Silent	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr4:26483452G>T	ENST00000295589.3	-	5	1289	c.1095C>A	c.(1093-1095)gtC>gtA	p.V365V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	365					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGATGGGGTTGACGCAGGAGG	0.642000													19	89					5.03518e-11	5.51189e-11	0.043863	1	0
ATAD5	79915	broad.mit.edu	37	17	29219790	29219790	+	Nonsense_Mutation	SNP	T	T	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:29219790T>G	ENST00000321990.4	+	20	4802	c.4424T>G	c.(4423-4425)tTa>tGa	p.L1475*		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1475					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGAAGACTTATTTTCATTT	0.323000													25	86					0	0	0.091800	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475488	157475488	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:157475488G>C	ENST00000389413.3	-	12	1946	c.1843C>G	c.(1843-1845)Cag>Gag	p.Q615E	PTPRN2_ENST00000409483.1_Missense_Mutation_p.Q606E|PTPRN2_ENST00000389418.4_Missense_Mutation_p.Q644E|PTPRN2_ENST00000389416.4_Missense_Mutation_p.Q627E|PTPRN2_ENST00000404321.2_Missense_Mutation_p.Q667E	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	644						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGCCTGTGCTGAGAGCTATGG	0.592000													31	102					0	0	0.183431	0	0
CLUL1	27098	broad.mit.edu	37	18	633421	633421	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:633421C>T	ENST00000581619.1	+	6	1902	c.1055C>T	c.(1054-1056)gCt>gTt	p.A352V	CLUL1_ENST00000579494.1_Missense_Mutation_p.A327V|CLUL1_ENST00000400606.2_Missense_Mutation_p.A327V|CLUL1_ENST00000540035.1_Missense_Mutation_p.A379V|CLUL1_ENST00000338387.7_Missense_Mutation_p.A327V			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	327					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AAATGTCAGGCTCACCTATCT	0.353000													3	37					0	0	0.014758	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680827	106680827	+	Silent	SNP	A	A	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:106680827A>C	ENST00000526355.1	-	5	2052	c.1584T>G	c.(1582-1584)gtT>gtG	p.V528V	GUCY1A2_ENST00000347596.2_Silent_p.V549V|GUCY1A2_ENST00000282249.2_Silent_p.V528V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	528	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTGTGAAGCCAACAATGTCTG	0.448000													3	64					0	0	0.150653	0	0
ASXL3	80816	broad.mit.edu	37	18	31322928	31322928	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:31322928C>G	ENST00000269197.5	+	12	3116	c.3116C>G	c.(3115-3117)aCt>aGt	p.T1039S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGAGCATCCACTAGCACATCT	0.527000													8	20					0	0	0.069234	0	0
FREM2	341640	broad.mit.edu	37	13	39454606	39454606	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr13:39454606G>C	ENST00000280481.7	+	24	9408	c.9192G>C	c.(9190-9192)gaG>gaC	p.E3064D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3064					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCATGGGAGATTGGTGCTG	0.557000													8	77					0	0	0.069234	0	0
TNN	63923	broad.mit.edu	37	1	175086186	175086186	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:175086186C>T	ENST00000239462.4	+	10	2344	c.2231C>T	c.(2230-2232)tCt>tTt	p.S744F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	744	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCCAAGGAC	0.632000													27	104					0	0	0.099896	0	0
DNAH7	56171	broad.mit.edu	37	2	196892737	196892737	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:196892737C>A	ENST00000312428.6	-	6	533	c.433G>T	c.(433-435)Gat>Tat	p.D145Y	DNAH7_ENST00000410072.1_Missense_Mutation_p.D145Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	145	Stem (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						GTGCTTCCATCAGGGACAGCT	0.373000													27	114					1.2476e-16	1.38207e-16	0.116897	1	0
SETD2	29072	broad.mit.edu	37	3	47079269	47079269	+	Splice_Site	SNP	T	T	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:47079269T>A	ENST00000409792.3	-	18	7281		c.e18-2			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGTCTGCCTAGAAAGAGAC	0.448000			"""N, F, S, Mis"""		clear cell renal carcinoma								17	37					0	0	0.175082	0	0
ATM	472	broad.mit.edu	37	11	108235833	108235833	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:108235833G>C	ENST00000278616.4	+	62	9260	c.8875G>C	c.(8875-8877)Gac>Cac	p.D2959H	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.D2959H	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2959	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCCACTCTTTGACTGGACCAT	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	38					0	0	0.069234	0	0
BAHD1	22893	broad.mit.edu	37	15	40751633	40751633	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:40751633C>T	ENST00000561234.1	+	2	1229	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	BAHD1_ENST00000416165.1_Silent_p.L324L|BAHD1_ENST00000560846.1_Silent_p.L324L			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	324	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACAGGCGGCTCTGAAGCCGGA	0.667000													30	55					0	0	0.125774	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089819	102089819	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:102089819C>A	ENST00000318222.3	-	1	424	c.42G>T	c.(40-42)aaG>aaT	p.K14N	PKD2L1_ENST00000353274.3_Missense_Mutation_p.K14N|PKD2L1_ENST00000338519.3_Missense_Mutation_p.K14N	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	14					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CACTCCCCAGCTTTTGCAGCT	0.652000													9	67					0.000673444	0.000696018	0.069234	1	0
SPHKAP	80309	broad.mit.edu	37	2	228886460	228886460	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:228886460C>G	ENST00000392056.3	-	6	710	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E222Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	222						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)		CTTTCCTCCTCCAAGTGCTCA	0.448000													15	54					0	0	0.119110	0	0
TMPO	7112	broad.mit.edu	37	12	98938265	98938265	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:98938265G>A	ENST00000556029.1	+	6	1185	c.829G>A	c.(829-831)Gag>Aag	p.E277K	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Missense_Mutation_p.E237K|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	277	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTAATTTCAGAGAGTACTCC	0.303000													8	22					0	0	0.038147	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834220	125834220	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:125834220C>T	ENST00000299308.3	+	2	283	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	92						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCCCATTTTCAGTGGAGAAG	0.498000													32	136					0	0	0.173368	0	0
CHST5	23563	broad.mit.edu	37	16	75563963	75563963	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:75563963G>A	ENST00000336257.3	-	3	1714	c.320C>T	c.(319-321)gCg>gTg	p.A107V	CHST5_ENST00000541075.1_Missense_Mutation_p.A113V|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	107					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CAGCGTTGCCGCGCTGCCCTG	0.612000													14	56					0	0	0.132662	0	0
NFAT5	10725	broad.mit.edu	37	16	69726596	69726596	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:69726596G>C	ENST00000349945.1	+	14	4138	c.2586G>C	c.(2584-2586)atG>atC	p.M862I	NFAT5_ENST00000566899.1_Missense_Mutation_p.M862I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M862I|NFAT5_ENST00000354436.2_Missense_Mutation_p.M938I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M955I|NFAT5_ENST00000432919.1_Missense_Mutation_p.M956I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	938					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTCTCACATGATGAGTGCAT	0.448000													3	85					0	0	0.115264	0	0
MARK2	2011	broad.mit.edu	37	11	63668051	63668051	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:63668051G>A	ENST00000402010.2	+	9	1368	c.789G>A	c.(787-789)ctG>ctA	p.L263L	MARK2_ENST00000361128.5_Silent_p.L263L|MARK2_ENST00000408948.3_Silent_p.L230L|MARK2_ENST00000315032.8_Silent_p.L263L|MARK2_ENST00000513765.2_Silent_p.L230L|MARK2_ENST00000508192.1_Silent_p.L263L|MARK2_ENST00000413835.2_Silent_p.L263L|MARK2_ENST00000377810.3_Silent_p.L230L|MARK2_ENST00000350490.7_Silent_p.L263L|MARK2_ENST00000509502.2_Silent_p.L230L|MARK2_ENST00000425897.2_Silent_p.L230L|MARK2_ENST00000502399.3_Silent_p.L263L|MARK2_ENST00000377809.4_Silent_p.L263L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	263	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AACGGGTACTGAGGGGAAAAT	0.463000													85	164					0	0	0.139131	0	0
SCN7A	6332	broad.mit.edu	37	2	167263076	167263076	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:167263076G>A	ENST00000409855.1	-	25	4189	c.4063C>T	c.(4063-4065)Cac>Tac	p.H1355Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1355					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CGCAGCATGTGAATGATCCGT	0.448000													31	91					0	0	0.144211	0	0
TARS2	80222	broad.mit.edu	37	1	150479448	150479448	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:150479448C>T	ENST00000369064.3	+	18	2099	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C	TARS2_ENST00000369054.2_Missense_Mutation_p.R559C|TARS2_ENST00000606933.1_Missense_Mutation_p.R607C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	689					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCGAGATAATCGTCGCCTTGG	0.517000													24	35					0	0	0.083992	0	0
PGGT1B	5229	broad.mit.edu	37	5	114573691	114573691	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:114573691G>A	ENST00000419445.1	-	4	363	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	PGGT1B_ENST00000379615.3_Missense_Mutation_p.H115Y	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	115					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TCATAAGGATGAGCTGTTCCA	0.343000													16	53					0	0	0.146539	0	0
OR5B3	441608	broad.mit.edu	37	11	58170261	58170261	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:58170261C>T	ENST00000309403.2	-	1	621	c.622G>A	c.(622-624)Gct>Act	p.A208T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	208					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)				ACCAGGAGAGCTATAAAGATA	0.393000													14	40					0	0	0.105934	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280592	105280592	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:105280592A>T	ENST00000327674.4	-	1	793	c.458T>A	c.(457-459)cTc>cAc	p.L153H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L153H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	153					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTCTCATAGAGGGTCTTGAC	0.428000													56	176					0	0	0.139131	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													3	37					0	0	0.115264	0	0
TNS1	7145	broad.mit.edu	37	2	218749773	218749773	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:218749773C>T	ENST00000171887.4	-	14	1308	c.856G>A	c.(856-858)Gat>Aat	p.D286N	TNS1_ENST00000430930.1_Missense_Mutation_p.D286N|TNS1_ENST00000310858.6_Missense_Mutation_p.D317N|TNS1_ENST00000419504.1_Missense_Mutation_p.D286N	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	286	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAAGCATCATCAAGGTCCTCC	0.577000													20	76					0	0	0.049695	0	0
CD163L1	283316	broad.mit.edu	37	12	7586192	7586192	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:7586192C>T	ENST00000313599.3	-	3	280	c.223G>A	c.(223-225)Gat>Aat	p.D75N	CD163L1_ENST00000416109.2_Missense_Mutation_p.D75N|CD163L1_ENST00000396630.1_Missense_Mutation_p.D75N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	75	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCCACCCATCATCACACACA	0.512000													30	93					0	0	0.069456	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289747	160289747	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:160289747G>T	ENST00000392783.2	-	9	1916	c.1421C>A	c.(1420-1422)aCa>aAa	p.T474K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.T472K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.T474K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.T472K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTTTTCTAATGTTTGTTTTGG	0.383000													66	187					5.89852e-23	6.57365e-23	0.139131	1	0
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr13:73649905G>C	ENST00000377687.4	+	4	1791	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	KLF5_ENST00000539231.1_Missense_Mutation_p.E328Q	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592000													16	54					0	0	0.076483	0	0
MIEF1	54471	broad.mit.edu	37	22	39909758	39909758	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr22:39909758C>T	ENST00000325301.2	+	6	1246	c.822C>T	c.(820-822)atC>atT	p.I274I	SMCR7L_ENST00000404569.1_Silent_p.I274I|SMCR7L_ENST00000402881.1_Silent_p.I274I	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		274						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CTGGCTCCATCAATTGGCCAG	0.567000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	52					0	0	0.132662	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127639	117127639	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:117127639C>A	ENST00000310357.3	-	3	1250	c.1229G>T	c.(1228-1230)gGa>gTa	p.G410V	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G410V|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	410					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGAATGAGTCCTGGCTCAGC	0.463000													14	28					3.27435e-08	3.50148e-08	0.119110	1	0
PTX4	390667	broad.mit.edu	37	16	1537675	1537675	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:1537675C>T	ENST00000447419.2	-	2	463	c.438G>A	c.(436-438)caG>caA	p.Q146Q	PTX4_ENST00000293922.1_Silent_p.Q141Q|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	146						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGCGTCCCTCTGGGCCTTGT	0.726000													9	40					0	0	0.058154	0	0
URB2	9816	broad.mit.edu	37	1	229790095	229790095	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:229790095C>T	ENST00000258243.2	+	9	4473	c.4337C>T	c.(4336-4338)tCc>tTc	p.S1446F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1446						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCTGTGTTTTCCCCATTTATG	0.483000													34	60					0	0	0.069456	0	0
DENND1A	57706	broad.mit.edu	37	9	126214606	126214606	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr9:126214606C>T	ENST00000373624.2	-	17	1449	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	DENND1A_ENST00000394219.3_Silent_p.L384L|DENND1A_ENST00000394215.2_Silent_p.L386L|DENND1A_ENST00000542603.1_Silent_p.L158L|DENND1A_ENST00000373618.1_Silent_p.L384L|DENND1A_ENST00000373620.3_Silent_p.L416L|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	416						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TTACAGTATTCAGAATTGCTC	0.418000													13	47					0	0	0.105934	0	0
PAQR7	164091	broad.mit.edu	37	1	26189836	26189836	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:26189836G>A	ENST00000374296.3	-	2	1161	c.495C>T	c.(493-495)gcC>gcT	p.A165A	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	165					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCATGCCAGGCGGGCTCGA	0.542000													27	79					0	0	0.116897	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789016	140789016	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140789016C>A	ENST00000520790.1	+	1	1247	c.1247C>A	c.(1246-1248)cCa>cAa	p.P416Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_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)			GAGCAGACACCAGAATACAAT	0.463000													14	51					9.31168e-06	9.73255e-06	0.105934	1	0
SYNE2	23224	broad.mit.edu	37	14	64522939	64522939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:64522939C>G	ENST00000358025.3	+	49	10252	c.10022C>G	c.(10021-10023)tCa>tGa	p.S3341*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.S3341*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S3374*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S3341*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTAAGAACTCAGCAATGAAG	0.403000													10	24					0	0	0.080935	0	0
KMT2D	8085	broad.mit.edu	37	12	49425896	49425896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:49425896G>A	ENST00000301067.7	-	39	12591	c.12592C>T	c.(12592-12594)Cga>Tga	p.R4198*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCTGTGCTCGAAGCTGACCC	0.587000													20	63					0	0	0.055883	0	0
TLE4	7091	broad.mit.edu	37	9	82187720	82187720	+	Silent	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr9:82187720G>T	ENST00000376520.4	+	1	843	c.15G>T	c.(13-15)ctG>ctT	p.L5L	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.L5L|TLE4_ENST00000376544.3_Silent_p.L5L|TLE4_ENST00000376552.2_Silent_p.L5L|TLE4_ENST00000265284.6_Silent_p.L5L			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTCGCGACCTGAGCAAGATGT	0.697000													9	29					3.09899e-07	3.2949e-07	0.047766	1	0
DNAH3	55567	broad.mit.edu	37	16	20952856	20952856	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:20952856C>T	ENST00000261383.3	-	59	11520	c.11521G>A	c.(11521-11523)Gag>Aag	p.E3841K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3841					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)		GCCAACTCCTCAACCACTTCC	0.458000													43	118					0	0	0.124865	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	48					0	0	0.132662	0	0
NPR1	4881	broad.mit.edu	37	1	153661467	153661467	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:153661467G>A	ENST00000368680.3	+	16	2928	c.2456G>A	c.(2455-2457)cGc>cAc	p.R819H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	819					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCTGTCCCGCATGGAGCAG	0.627000													4	159					0	0	0.150653	0	0
RAI1	10743	broad.mit.edu	37	17	17697979	17697979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:17697979C>T	ENST00000353383.1	+	3	2186	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.Q573*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	573						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGACTCCTTCCAGAGCCTACA	0.622000													25	124					0	0	0.116897	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182415	140182415	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140182415C>G	ENST00000522353.2	+	1	1633	c.1633C>G	c.(1633-1635)Ctg>Gtg	p.L545V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L545V	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.682000													46	136					0	0	0.139131	0	0
KCNC1	3746	broad.mit.edu	37	11	17794091	17794091	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:17794091C>G	ENST00000379472.3	+	2	1480	c.1450C>G	c.(1450-1452)Cag>Gag	p.Q484E	KCNC1_ENST00000265969.6_Missense_Mutation_p.Q484E	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	484						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCACAGTACTCAGAGTGACAC	0.458000													28	80					0	0	0.144211	0	0
ALPK2	115701	broad.mit.edu	37	18	56171311	56171311	+	Silent	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:56171311C>G	ENST00000361673.3	-	11	6312	c.6099G>C	c.(6097-6099)ctG>ctC	p.L2033L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2033	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTCTCCAATCAGCTCCTCCT	0.448000													41	155					0	0	0.139131	0	0
OR52E8	390079	broad.mit.edu	37	11	5878253	5878253	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:5878253A>G	ENST00000537935.1	-	1	711	c.680T>C	c.(679-681)cTg>cCg	p.L227P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGCATACAGGATCCTGAC	0.453000													5	46					0	0	0.014758	0	0
LEPR	3953	broad.mit.edu	37	1	66098834	66098834	+	Splice_Site	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:66098834G>T	ENST00000371060.3	+	20	2858		c.e20-1		LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron	NM_001003679.3|NM_001198689.1	NP_001003679.1|NP_001185618.1	P48357	LEPR_HUMAN	leptin receptor						energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCTAAACAGAGAACGGACA	0.299000													6	22					0.0215528	0.021908	0.021553	1	0
C1QL4	338761	broad.mit.edu	37	12	49730237	49730237	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:49730237G>A	ENST00000334221.3	-	1	734	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	8						collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCAGCGGGATGGCCACCAGCA	0.721000													10	14					0	0	0.069234	0	0
ALMS1	7840	broad.mit.edu	37	2	73651739	73651739	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:73651739G>A	ENST00000264448.6	+	5	1057	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	ALMS1_ENST00000377715.1_Missense_Mutation_p.E316K|ALMS1_ENST00000409009.1_Missense_Mutation_p.E274K	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	316					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTACCTTCTGAACAAGGGAA	0.413000													13	33					0	0	0.093190	0	0
EPHA8	2046	broad.mit.edu	37	1	22927936	22927936	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:22927936C>G	ENST00000166244.3	+	16	2945	c.2873C>G	c.(2872-2874)tCt>tGt	p.S958C		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	958	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGATACTCCTCTCTGGGCATG	0.716000													18	48					0	0	0.043863	0	0
NRIP1	8204	broad.mit.edu	37	21	16339865	16339865	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr21:16339865C>G	ENST00000400202.1	-	3	1361	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	NRIP1_ENST00000318948.4_Missense_Mutation_p.E217Q|NRIP1_ENST00000400199.1_Missense_Mutation_p.E217Q			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	217	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGAGGAGACTCTGCAAACCTA	0.393000													7	126					0	0	0.029380	0	0
NUMA1	4926	broad.mit.edu	37	11	71725332	71725332	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:71725332C>T	ENST00000393695.3	-	15	3548	c.3217G>A	c.(3217-3219)Gag>Aag	p.E1073K	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1073K|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1073					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGGCTGCCTCCAGACCACGA	0.562000			T	RARA	APL								34	141					0	0	0.163468	0	0
ATXN1	6310	broad.mit.edu	37	6	16327909	16327909	+	Missense_Mutation	SNP	A	A	C	rs59310777	by1000genomes	TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:16327909A>C	ENST00000244769.4	-	8	1569	c.633T>G	c.(631-633)caT>caG	p.H211Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgatgctgatgct	0.672000													3	20					0	0	0.115264	0	0
BCAN	63827	broad.mit.edu	37	1	156627540	156627540	+	Silent	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:156627540C>G	ENST00000329117.4	+	11	2619	c.2283C>G	c.(2281-2283)ggC>ggG	p.G761G	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000496038.1_3'UTR	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	761	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCGGATGGCGTCCCCCTGG	0.632000											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	30					0	0	0.021553	0	0
SP1	6667	broad.mit.edu	37	12	53776245	53776245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:53776245C>T	ENST00000426431.2	+	3	553	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	SP1_ENST00000327443.4_Nonsense_Mutation_p.Q172*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	172	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCCTAATATTCAGTATCAAGT	0.517000													31	85					0	0	0.144211	0	0
HAS2	3037	broad.mit.edu	37	8	122626891	122626891	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:122626891G>A	ENST00000303924.4	-	4	1654	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	373						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATCCACAAGTGATGTTTGTGA	0.433000													4	139					0	0	0.150653	0	0
USP26	83844	broad.mit.edu	37	X	132159788	132159788	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:132159788C>T	ENST00000511190.1	-	6	2930	c.2461G>A	c.(2461-2463)Gat>Aat	p.D821N	USP26_ENST00000406273.1_Missense_Mutation_p.D821N|USP26_ENST00000370832.1_Missense_Mutation_p.D821N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	821					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TAGGTATGATCTCCCTTATCA	0.383000													23	98					0	0	0.069288	0	0
MARK2	2011	broad.mit.edu	37	11	63665725	63665725	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:63665725A>G	ENST00000402010.2	+	4	889	c.310A>G	c.(310-312)Atg>Gtg	p.M104V	MARK2_ENST00000361128.5_Missense_Mutation_p.M104V|MARK2_ENST00000408948.3_Missense_Mutation_p.M71V|MARK2_ENST00000315032.8_Missense_Mutation_p.M104V|MARK2_ENST00000513765.2_Missense_Mutation_p.M71V|MARK2_ENST00000508192.1_Missense_Mutation_p.M104V|MARK2_ENST00000413835.2_Missense_Mutation_p.M104V|MARK2_ENST00000377810.3_Missense_Mutation_p.M71V|MARK2_ENST00000350490.7_Missense_Mutation_p.M104V|MARK2_ENST00000509502.2_Missense_Mutation_p.M71V|MARK2_ENST00000425897.2_Missense_Mutation_p.M71V|MARK2_ENST00000502399.3_Missense_Mutation_p.M104V|MARK2_ENST00000377809.4_Missense_Mutation_p.M104V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	104	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTAAGAATAATGAAGGTTTT	0.463000													35	138					0	0	0.086207	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056385	81056385	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:81056385C>T	ENST00000334512.5	+	13	1960	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	463	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCGCCCCCCACGGTCAACATG	0.667000													8	61					0	0	0.047766	0	0
ZNF318	24149	broad.mit.edu	37	6	43323114	43323114	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:43323114G>A	ENST00000361428.2	-	4	2035	c.1958C>T	c.(1957-1959)tCa>tTa	p.S653L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S653L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	653					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCGGTCAGCTGAGAAGCGGTG	0.537000													27	88					0	0	0.125774	0	0
DUSP5	1847	broad.mit.edu	37	10	112270036	112270036	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:112270036C>G	ENST00000369583.3	+	4	1291	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	336	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GCAGCAGGCTCTTCACTGATA	0.607000													17	49					0	0	0.160694	0	0
RASGRF1	5923	broad.mit.edu	37	15	79323750	79323750	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:79323750C>T	ENST00000419573.3	-	8	1528	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.E418E	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	418	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACCTGGACAGCTCCTCCAGTT	0.622000													6	10					0	0	0.021553	0	0
USP42	84132	broad.mit.edu	37	7	6189606	6189606	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:6189606G>A	ENST00000306177.5	+	13	1937	c.1779G>A	c.(1777-1779)atG>atA	p.M593I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	593					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGCCCGTGATGAATGGCAAAT	0.537000													6	28					0	0	0.021553	0	0
FAM196A	642938	broad.mit.edu	37	10	128974492	128974492	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:128974492C>T	ENST00000522781.1	-	4	723	c.168G>A	c.(166-168)caG>caA	p.Q56Q	FAM196A_ENST00000424811.2_Silent_p.Q56Q|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	56										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGCTCATTCTGTGCCTCGC	0.587000													46	108					0	0	0.139131	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231659	29231659	+	RNA	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:29231659G>C	ENST00000441381.1	+	0	130																											AAAGATCCAAGATAGCCAGAT	0.388000													32	205					0	0	0.144211	0	0
SAE1	10055	broad.mit.edu	37	19	47700569	47700569	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:47700569G>C	ENST00000270225.7	+	7	881	c.813G>C	c.(811-813)caG>caC	p.Q271H	SAE1_ENST00000540850.1_Missense_Mutation_p.Q97H|SAE1_ENST00000598840.1_Missense_Mutation_p.Q190H|SAE1_ENST00000392776.3_Intron|SAE1_ENST00000413379.3_Intron	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	271					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGTTGCTCCAGATACGAAATG	0.423000													17	108					0	0	0.043863	0	0
CNIH1	10175	broad.mit.edu	37	14	54894543	54894543	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:54894543C>A	ENST00000216416.4	-	5	527	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	CNIH_ENST00000557690.1_Missense_Mutation_p.V158L|CNIH_ENST00000395573.4_Missense_Mutation_p.V94L|CNIH_ENST00000553660.1_Missense_Mutation_p.V119L	NM_005776.2	NP_005767.1	O95406	CNIH_HUMAN		142					immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(112;0.00341)		TAAGAGCTCACCAAAACATAG	0.343000													14	72					5.3912e-06	5.69927e-06	0.175082	1	0
PCDHB11	56125	broad.mit.edu	37	5	140580847	140580847	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140580847C>T	ENST00000354757.3	+	1	1500	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	PCDHB11_ENST00000536699.1_Silent_p.L135L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		500	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCCTGG	0.647000													76	215					0	0	0.139131	0	0
ATG4D	84971	broad.mit.edu	37	19	10663624	10663624	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:10663624C>G	ENST00000309469.4	+	10	1479	c.1306C>G	c.(1306-1308)Cag>Gag	p.Q436E	ATG4D_ENST00000540862.1_Missense_Mutation_p.Q103E	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	436					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGCCATGCTCAGGACCACAG	0.672000													14	90					0	0	0.146539	0	0
ACR	49	broad.mit.edu	37	22	51183283	51183283	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr22:51183283C>T	ENST00000216139.5	+	5	954	c.914C>T	c.(913-915)cCc>cTc	p.P305L	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	305					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCACCTCCCACCACTCGA	0.597000													3	7					0	0	0.115264	0	0
SNX8	29886	broad.mit.edu	37	7	2296529	2296529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:2296529G>A	ENST00000222990.3	-	10	1306	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	422					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCTTGGATCTGAGAGTTGACG	0.647000													6	29					0	0	0.038147	0	0
ALG10	84920	broad.mit.edu	37	12	34179527	34179527	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:34179527G>C	ENST00000266483.2	+	3	1418	c.1099G>C	c.(1099-1101)Gaa>Caa	p.E367Q	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	367					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAAAGATATGAAACTGTAAA	0.289000													24	63					0	0	0.083992	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779455	31779455	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:31779455C>T	ENST00000375654.4	-	2	484	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E99K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	99					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGCCTCCTTCATTAATCACT	0.413000													25	179					0	0	0.099896	0	0
EXOSC10	5394	broad.mit.edu	37	1	11142751	11142751	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:11142751C>G	ENST00000544779.1	-	10	1279	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	EXOSC10_ENST00000304457.7_Missense_Mutation_p.R425T|EXOSC10_ENST00000376936.4_Missense_Mutation_p.R425T			Q01780	EXOSX_HUMAN	exosome component 10	425					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGACCGTATTCTCCAATCAGC	0.488000													16	114					0	0	0.160694	0	0
TYW1B	441250	broad.mit.edu	37	7	72159743	72159743	+	RNA	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:72159743G>A	ENST00000438125.1	-	0	1053							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGGGCGGTCGATTTTCTTCA	0.388000													14	35					0	0	0.132662	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61300394	61300394	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:61300394G>A	ENST00000217159.1	+	11	2194	c.1989G>A	c.(1987-1989)atG>atA	p.M663I	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.M663I|SLCO4A1_ENST00000470412.1_3'UTR	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	663					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ATTCGGCCATGAGCCGCTACA	0.627000											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	0.058154	0	0
RBP3	5949	broad.mit.edu	37	10	48388984	48388984	+	Missense_Mutation	SNP	A	A	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:48388984A>C	ENST00000224600.4	-	1	2007	c.1894T>G	c.(1894-1896)Ttc>Gtc	p.F632V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	632	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTTGGTGGAACTCCAGCACT	0.672000													13	27					0	0	0.119110	0	0
CDH12	1010	broad.mit.edu	37	5	21817190	21817190	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:21817190C>T	ENST00000382254.1	-	9	1952	c.866G>A	c.(865-867)gGa>gAa	p.G289E	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G289E|CDH12_ENST00000522262.1_Missense_Mutation_p.G249E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	289	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTATTCTTCCAATAGCTGA	0.378000										HNSCC(59;0.17)			11	53					0	0	0.080935	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	37					0	0	0.115264	0	0
OR51E2	81285	broad.mit.edu	37	11	4703674	4703674	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:4703674C>T	ENST00000396950.3	-	2	507	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGCTAATCTCTCGGGAATCA	0.493000													19	48					0	0	0.175082	0	0
CTNND2	1501	broad.mit.edu	37	5	11364847	11364847	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:11364847G>C	ENST00000304623.8	-	8	1522	c.1333C>G	c.(1333-1335)Ctg>Gtg	p.L445V	CTNND2_ENST00000511377.1_Missense_Mutation_p.L354V|CTNND2_ENST00000503622.1_Missense_Mutation_p.L108V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.L445V|CTNND2_ENST00000458100.2_Missense_Mutation_p.L12V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	445					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTGGCGGCAGAGGGTCCCCC	0.637000													7	38					0	0	0.047766	0	0
FER1L6	654463	broad.mit.edu	37	8	124968250	124968250	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:124968250G>A	ENST00000522917.1	+	2	218	c.12G>A	c.(10-12)ctG>ctA	p.L4L	FER1L6_ENST00000399018.1_Silent_p.L4L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	4						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTTTGGGCTGAAGGTGAAGA	0.443000													3	24					0	0	0.021553	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906126	120906126	+	RNA	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:120906126G>A	ENST00000430394.1	+	0	99					NR_027337.1																						AGGACGGCGAGAAGCGCAAGC	0.577000													8	142					0	0	0.047766	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149221931	149221931	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:149221931G>C	ENST00000309241.5	+	10	2839	c.2807G>C	c.(2806-2808)aGa>aCa	p.R936T	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R872T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R897T|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R936T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	936	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTGCTGACAAGAAATAGGAGG	0.507000													13	52					0	0	0.105934	0	0
FLNC	2318	broad.mit.edu	37	7	128488927	128488927	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:128488927G>C	ENST00000325888.8	+	28	5079	c.4818G>C	c.(4816-4818)atG>atC	p.M1606I	FLNC_ENST00000346177.6_Missense_Mutation_p.M1606I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1606					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCCGGACATGAGTGGCCGGT	0.602000													28	70					0	0	0.108266	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935914	151935914	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:151935914C>G	ENST00000393902.3	-	3	820	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	MAGEA3_ENST00000370278.3_Missense_Mutation_p.E85Q			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	85										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTCCTCATAGGATTGG	0.597000													26	74					0	0	0.134883	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	94					0	0	0.038147	0	0
CDH12	1010	broad.mit.edu	37	5	21817092	21817092	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:21817092C>T	ENST00000382254.1	-	9	2050	c.964G>A	c.(964-966)Gat>Aat	p.D322N	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D322N|CDH12_ENST00000522262.1_Missense_Mutation_p.D282N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	322	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTATCCTCATCTGTGACGATG	0.333000										HNSCC(59;0.17)			20	112					0	0	0.076483	0	0
SP140	11262	broad.mit.edu	37	2	231150522	231150522	+	Silent	SNP	T	T	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:231150522T>C	ENST00000392045.3	+	17	1734	c.1620T>C	c.(1618-1620)aaT>aaC	p.N540N	SP140_ENST00000343805.6_Silent_p.N480N|SP140_ENST00000420434.3_Silent_p.N513N|SP140_ENST00000350136.5_Silent_p.N409N|SP140_ENST00000486687.2_Silent_p.N464N|SP140_ENST00000417495.3_Silent_p.N426N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	540					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CGAACGTGAATCTGAAAGACC	0.453000													41	104					0	0	0.111260	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299881	112299881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:112299881C>A	ENST00000492406.1	+	6	1200	c.917C>A	c.(916-918)tCa>tAa	p.S306*	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	306						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						AGTGCATTTTCAGTAGCCCTT	0.438000													18	58					8.00594e-06	8.41533e-06	0.043863	1	0
NPHS1	4868	broad.mit.edu	37	19	36322590	36322590	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:36322590C>A	ENST00000378910.5	-	24	3240	c.3241G>T	c.(3241-3243)Gtc>Ttc	p.V1081F	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1081					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCCCCCCGACACAGGAGGCA	0.652000													4	8					0.150653	0.1523	0.150653	1	0
MTMR7	9108	broad.mit.edu	37	8	17169138	17169138	+	Nonsense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:17169138G>C	ENST00000180173.5	-	9	1017	c.983C>G	c.(982-984)tCa>tGa	p.S328*	MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Nonsense_Mutation_p.S328*	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	328	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCCTTCCTCTGACACTGCCTA	0.522000													102	384					0	0	0.139131	0	0
PACS2	23241	broad.mit.edu	37	14	105851322	105851322	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:105851322G>T	ENST00000447393.1	+	18	2173	c.1998G>T	c.(1996-1998)aaG>aaT	p.K666N	PACS2_ENST00000430725.2_Missense_Mutation_p.K587N|PACS2_ENST00000551743.1_Missense_Mutation_p.K176N|PACS2_ENST00000547217.1_Missense_Mutation_p.K632N|PACS2_ENST00000458164.2_Missense_Mutation_p.K666N|PACS2_ENST00000325438.8_Missense_Mutation_p.K662N	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	662					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACAAGCAGAAGAGGTAACGCG	0.662000													3	4					6.4e-05	6.65169e-05	0.115264	1	0
LBR	3930	broad.mit.edu	37	1	225609951	225609951	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:225609951C>T	ENST00000338179.2	-	3	319	c.194G>A	c.(193-195)gGt>gAt	p.G65D	LBR_ENST00000272163.4_Missense_Mutation_p.G65D	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	65	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGTTGAGCCACCTTTCCTTTG	0.517000													12	38					0	0	0.093190	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513851	143513851	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:143513851G>A	ENST00000316549.6	-	4	733	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	175					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ACCCTATGACGATGCAGGAGA	0.448000													25	63					0	0	0.108266	0	0
STOX2	56977	broad.mit.edu	37	4	184931234	184931234	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr4:184931234G>A	ENST00000308497.4	+	3	2678	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	STOX2_ENST00000438269.1_Missense_Mutation_p.E415K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	415					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTCATCATTGAACACAAAGG	0.493000													5	15					0	0	0.014758	0	0
IFNGR1	3459	broad.mit.edu	37	6	137524823	137524823	+	Nonstop_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:137524823C>G	ENST00000367735.2	-	6	736	c.561G>C	c.(559-561)taG>taC	p.*187Y	IFNGR1_ENST00000367739.4_Splice_Site|IFNGR1_ENST00000543628.1_Splice_Site			P15260	INGR1_HUMAN	interferon gamma receptor 1	0					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATACTGGATCTAGATGAAAA	0.343000													9	22					0	0	0.047766	0	0
YME1L1	10730	broad.mit.edu	37	10	27437885	27437885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:27437885G>A	ENST00000326799.3	-	2	266	c.118C>T	c.(118-120)Caa>Taa	p.Q40*	YME1L1_ENST00000477432.1_Nonsense_Mutation_p.Q40*|YME1L1_ENST00000375972.3_Nonsense_Mutation_p.Q40*|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.Q40*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	40					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGCTGGTTTTGAGAAACTGAC	0.413000													50	143					0	0	0.139131	0	0
DUSP13	51207	broad.mit.edu	37	10	76861687	76861687	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:76861687C>T	ENST00000491677.2	-	5	866	c.324G>A	c.(322-324)ctG>ctA	p.L108L	DUSP13_ENST00000607131.1_Silent_p.L72L|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCTGGCTTTCAGCCGCCTGT	0.532000													20	92					0	0	0.043863	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	81					0	0	0.150653	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975721	34975721	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr21:34975721C>T	ENST00000361534.2	-	8	665	c.526G>A	c.(526-528)Gat>Aat	p.D176N	CRYZL1_ENST00000381554.3_Missense_Mutation_p.D152N|CRYZL1_ENST00000381540.3_Missense_Mutation_p.D152N|CRYZL1_ENST00000290244.5_Missense_Mutation_p.D137N|CRYZL1_ENST00000445393.1_Missense_Mutation_p.D114N|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	152					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTTGCTCCATCCATTATCAGC	0.413000													25	93					0	0	0.108266	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477876	42477876	+	Silent	SNP	C	C	T	rs149798216		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:42477876C>T	ENST00000434000.1	-	9	1617	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	GPATCH8_ENST00000591680.1_Silent_p.G523G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	523						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGCTTTCTTTCCCTGCTGGGG	0.458000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	54					0	0	0.043863	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382477	41382477	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:41382477A>G	ENST00000377801.3	-	2	337	c.263T>C	c.(262-264)cTa>cCa	p.L88P	PLCXD3_ENST00000328457.3_Missense_Mutation_p.L88P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	88	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCCAGCTCCTAGCTGGCCAGT	0.443000													16	56					0	0	0.175082	0	0
IFIH1	64135	broad.mit.edu	37	2	163133265	163133265	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:163133265C>T	ENST00000263642.2	-	11	2631	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	746	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTCCTACTTCAGCAAATTTT	0.418000													22	109					0	0	0.062417	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706555	15706555	+	Silent	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:15706555C>G	ENST00000396368.3	-	17	3539	c.3333G>C	c.(3331-3333)ctG>ctC	p.L1111L	KIAA0430_ENST00000540441.2_Silent_p.L946L|KIAA0430_ENST00000344181.3_Silent_p.L713L|KIAA0430_ENST00000548025.1_Silent_p.L1108L|KIAA0430_ENST00000551742.1_Silent_p.L1111L|KIAA0430_ENST00000602337.1_Silent_p.L1108L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1110						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCTGGCTTTTCAGCAAGTCAA	0.468000													53	157					0	0	0.139131	0	0
EPN2	22905	broad.mit.edu	37	17	19186886	19186886	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:19186886G>C	ENST00000314728.5	+	3	938	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.E152Q|EPN2_ENST00000395626.1_Missense_Mutation_p.E152Q|EPN2_ENST00000571254.1_Missense_Mutation_p.E152Q|EPN2_ENST00000395620.2_Missense_Mutation_p.E152Q|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	152					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAAAACCAAAGAGCGCATGGC	0.602000													23	56					0	0	0.083992	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418063	4418063	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:4418063G>C	ENST00000301280.5	+	4	1108	c.1007G>C	c.(1006-1008)aGa>aCa	p.R336T		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	336	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGCTCAGACTGCAAAGA	0.363000								Chromatin Structure					16	60					0	0	0.132662	0	0
GCKR	2646	broad.mit.edu	37	2	27720225	27720225	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:27720225G>A	ENST00000264717.2	+	2	238	c.175G>A	c.(175-177)Gag>Aag	p.E59K	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	59					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ATGTGATGCTGAGATCTTCCA	0.537000													4	63					0	0	0.150653	0	0
HECTD1	25831	broad.mit.edu	37	14	31589063	31589063	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:31589063C>G	ENST00000399332.1	-	29	5736	c.5248G>C	c.(5248-5250)Gag>Cag	p.E1750Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1750Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1750					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTCGTACTCTTCTTCTTCC	0.368000													15	57					0	0	0.160694	0	0
SPTAN1	6709	broad.mit.edu	37	9	131344062	131344062	+	Splice_Site	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr9:131344062C>T	ENST00000358161.5	+	12	1576	c.1461_splice	c.e12-1	p.A488_splice	SPTAN1_ENST00000372731.4_Splice_Site_p.A488_splice|SPTAN1_ENST00000372739.3_Splice_Site_p.A488_splice			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	488					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTTGGCAAGGCGTTCCTGTTG	0.413000													44	184					0	0	0.139131	0	0
UMODL1	89766	broad.mit.edu	37	21	43519164	43519164	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr21:43519164A>G	ENST00000400427.1	+	7	1240	c.844A>G	c.(844-846)Agg>Ggg	p.R282G	UMODL1_ENST00000408989.2_Missense_Mutation_p.R354G|UMODL1_ENST00000400424.1_Missense_Mutation_p.R282G|UMODL1_ENST00000408910.2_Missense_Mutation_p.R354G	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	354	EGF-like 1; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAGTTGCTCAGGAGCGCCAG	0.577000													20	70					0	0	0.069288	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798377	148798377	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:148798377C>T	ENST00000355220.5	+	5	1333	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P382S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	411	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGGAGGGATCCCACTTCTTA	0.547000													39	129					0	0	0.080422	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481005	140481005	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140481005A>G	ENST00000231130.2	+	1	772	c.772A>G	c.(772-774)Aac>Gac	p.N258D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		258	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCCCCGTTAACTCTGTCAT	0.418000													31	85					0	0	0.173368	0	0
OR8K1	390157	broad.mit.edu	37	11	56114262	56114262	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:56114262C>T	ENST00000279783.2	+	1	842	c.748C>T	c.(748-750)Cat>Tat	p.H250Y		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CTGTAGCTCTCATCTGACAGT	0.408000										HNSCC(65;0.19)			14	55					0	0	0.119110	0	0
FAM107B	83641	broad.mit.edu	37	10	14816578	14816578	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:14816578C>T	ENST00000181796.2	-	1	318	c.85G>A	c.(85-87)Gcc>Acc	p.A29T		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCAAAACAGGCGAGCAGAGCT	0.532000													5	83					0	0	0.021553	0	0
KCNF1	3754	broad.mit.edu	37	2	11053443	11053443	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:11053443C>T	ENST00000295082.1	+	1	1381	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	297						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCATGCGCATCGCGCGCATCT	0.647000													4	18					0	0	0.150653	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735843	126735843	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:126735843G>A	ENST00000251772.4	+	16	3239	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1080Q			Q9UIW2	PLXA1_HUMAN	plexin A1	1080	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGTGAACCCCGAATCCGGGCC	0.647000													15	41					0	0	0.160694	0	0
CA3	761	broad.mit.edu	37	8	86352077	86352077	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:86352077G>C	ENST00000285381.2	+	2	254	c.171G>C	c.(169-171)aaG>aaC	p.K57N		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	57					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTCTGCCAAGACCATCCTGA	0.458000													13	52					0	0	0.105934	0	0
MAPRE2	10982	broad.mit.edu	37	18	32712020	32712020	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:32712020G>C	ENST00000436190.2	+	7	1013	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	MAPRE2_ENST00000538170.2_Missense_Mutation_p.E206Q|MAPRE2_ENST00000300249.5_Missense_Mutation_p.E259Q|MAPRE2_ENST00000413393.1_Missense_Mutation_p.E216Q|MAPRE2_ENST00000589699.1_Missense_Mutation_p.E216Q	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	259	DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACTTGCCCTTGAAGGCGTGGA	0.433000													7	33					0	0	0.058154	0	0
TEX2	55852	broad.mit.edu	37	17	62271034	62271034	+	Silent	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:62271034G>C	ENST00000258991.3	-	4	2145	c.2061C>G	c.(2059-2061)ctC>ctG	p.L687L	TEX2_ENST00000584379.1_Silent_p.L687L|TEX2_ENST00000583097.1_Silent_p.L687L			Q8IWB9	TEX2_HUMAN	testis expressed 2	687					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAAAGAGATAGAGTATCTGAT	0.493000													30	103					0	0	0.125774	0	0
PHF20	51230	broad.mit.edu	37	20	34451291	34451291	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:34451291A>G	ENST00000439301.1	+	7	823	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000374012.3_Silent_p.K259K	NM_016436.4	NP_057520.2	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCAAAAGAAAACGAGGCAGAC	0.448000													28	121					0	0	0.134883	0	0
KLHL41	10324	broad.mit.edu	37	2	170371130	170371130	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:170371130C>T	ENST00000284669.1	+	2	1234	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	BBS5_ENST00000554017.1_Missense_Mutation_p.S324L|KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.S324L	NM_006063.2	NP_006054.2			kelch-like family member 41																		CCTCTGCCTTCAGCCAGGTGT	0.433000													16	69					0	0	0.146539	0	0
GLP1R	2740	broad.mit.edu	37	6	39025255	39025255	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:39025255C>T	ENST00000373256.4	+	3	226	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	61					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CAGACTTGTTCTGCAACCGGA	0.617000													7	39					0	0	0.047766	0	0
BAG6	7917	broad.mit.edu	37	6	31609167	31609167	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:31609167G>A	ENST00000404765.2	-	19	2881	c.2592C>T	c.(2590-2592)atC>atT	p.I864I	BAG6_ENST00000375976.4_Silent_p.I828I|BAG6_ENST00000439687.2_Silent_p.I702I|BAG6_ENST00000362049.6_Silent_p.I828I|BAG6_ENST00000375964.6_Silent_p.I834I|BAG6_ENST00000211379.5_Silent_p.I828I			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	834					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGTCCGGATGATGTCCACAC	0.522000													43	168					0	0	0.131918	0	0
RFX7	64864	broad.mit.edu	37	15	56385610	56385610	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:56385610G>A	ENST00000423270.1	-	9	4315	c.4316C>T	c.(4315-4317)tCt>tTt	p.S1439F	RFX7_ENST00000317318.6_Intron|RFX7_ENST00000559447.2_Missense_Mutation_p.S1342F|RFX7_ENST00000422057.1_Intron	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1342					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAAGTCATAGAATTCATGGA	0.368000													5	36					0	0	0.014758	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675457	3675457	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:3675457C>G	ENST00000344754.4	-	11	2796	c.2797G>C	c.(2797-2799)Gat>Cat	p.D933H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D933H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	933	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCTGGCCATCCCGATACCAA	0.617000													15	44					0	0	0.119110	0	0
OR52E8	390079	broad.mit.edu	37	11	5878254	5878254	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:5878254G>A	ENST00000537935.1	-	1	710	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCATACAGGATCCTGACA	0.458000													4	48					0	0	0.150653	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121752	117121752	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:117121752G>T	ENST00000310357.3	-	4	1564	c.1543C>A	c.(1543-1545)Ctt>Att	p.L515I	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	515					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTACCTTAAGATTCCTGAAC	0.428000													25	43					9.57634e-11	1.04213e-10	0.083992	1	0
PNISR	25957	broad.mit.edu	37	6	99849436	99849437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:99849436_99849437insA	ENST00000369239.5	-	12	1601_1602	c.1397_1398insT	c.(1396-1398)ttcfs	p.F466fs	PNISR_ENST00000438806.1_Frame_Shift_Ins_p.F466fs	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	466						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTAGTAGTGATAAACTATTTTG	0.332													16	46	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													23	29	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													4	6	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													5	2	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													6	10	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													9	233	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													3	5	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808163	77808164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:77808163_77808164insT	ENST00000269397.4	-	5	1454_1455	c.1277_1278insA	c.(1276-1278)acgfs	p.T426fs		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	426	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAGTCAGCCGCTTCTTGCAGGG	0.738													2	4	---	---	---	---					
KLC3	147700	broad.mit.edu	37	19	45849956	45849956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:45849956delC	ENST00000470402.1	+	2	555	c.455delC	c.(454-456)gcfs	p.A152fs	KLC3_ENST00000585434.1_Frame_Shift_Del_p.A138fs|KLC3_ENST00000391946.2_Frame_Shift_Del_p.A138fs			Q6P597	KLC3_HUMAN	kinesin light chain 3	138						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAGTCCGTGGCCCAGCTGGAG	0.731													2	4	---	---	---	---					
