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
ZNF536	9745	broad.mit.edu	37	19	31039643	31039643	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:31039643C>A	ENST00000355537.3	+	4	3264	c.3117C>A	c.(3115-3117)gtC>gtA	p.V1039V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGTCACAGTCAACTGCAAAG	0.542000													17	45					3.52763e-06	6.80229e-06	0.004990	1	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598649	144598649	+	RNA	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:144598649G>T	ENST00000419820.1	+	0	577																											CACGCTGGGGGTGCCACCAAC	0.592000													4	35					1.024e-07	2.03121e-07	0.000602	1	0
TRAV1-1	28693	broad.mit.edu	37	14	22090461	22090461	+	RNA	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:22090461C>A	ENST00000542354.1	+	0	133																											AAGCCTTGAGCAGCCCTCTGA	0.483000													12	60					5.50884e-06	1.05805e-05	0.001368	1	0
COL5A1	1289	broad.mit.edu	37	9	137593123	137593123	+	Missense_Mutation	SNP	G	G	A	rs142890619	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:137593123G>A	ENST00000371817.3	+	4	1012	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	200	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCATGATCGACATCAATGG	0.542000													4	22					0	0	0.000248	0	0
MPDZ	8777	broad.mit.edu	37	9	13216781	13216781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:13216781T>C	ENST00000319217.7	-	10	1529	c.1282A>G	c.(1282-1284)Att>Gtt	p.I428V	MPDZ_ENST00000447879.1_Missense_Mutation_p.I428V|MPDZ_ENST00000541718.1_Missense_Mutation_p.I428V|MPDZ_ENST00000536827.1_Missense_Mutation_p.I428V|MPDZ_ENST00000381015.4_Missense_Mutation_p.I428V|MPDZ_ENST00000381022.2_Missense_Mutation_p.I428V|MPDZ_ENST00000546205.1_Missense_Mutation_p.I428V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	428	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTGCTATAATTTGGTCTCCA	0.323000													10	12					0	0	0.000673	0	0
DMPK	1760	broad.mit.edu	37	19	46280797	46280797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:46280797C>T	ENST00000600757.1	-	7	1651	c.964G>A	c.(964-966)Gac>Aac	p.D322N	DMPK_ENST00000447742.2_Missense_Mutation_p.D312N|DMPK_ENST00000458663.2_Missense_Mutation_p.D312N|DMPK_ENST00000354227.5_Missense_Mutation_p.D312N|DMPK_ENST00000291270.4_Missense_Mutation_p.D312N|DMPK_ENST00000343373.4_Missense_Mutation_p.D322N			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	322	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGAATGAAGTCTCGAGCCTCC	0.652000													11	59					0	0	0.000673	0	0
GGT5	2687	broad.mit.edu	37	22	24640644	24640644	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:24640644C>G	ENST00000327365.4	-	1	466	c.50G>C	c.(49-51)gGg>gCg	p.G17A	GGT5_ENST00000398292.3_Missense_Mutation_p.G17A|GGT5_ENST00000263112.7_Missense_Mutation_p.G17A|GGT5_ENST00000418439.2_Missense_Mutation_p.G17A	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	17					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAGCGCCAGCCCCAGACCCAG	0.706000													3	34					0	0	0.004672	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243544	19243544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:19243544C>T	ENST00000450333.2	-	4	245	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TMEM161A_ENST00000592369.1_5'UTR|TMEM161A_ENST00000587583.2_Missense_Mutation_p.E70K|TMEM161A_ENST00000162044.9_Missense_Mutation_p.E70K	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	70					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GGCTTCTCCTCACTAAGGCCA	0.627000													4	27					0	0	0.001168	0	0
LHB	3972	broad.mit.edu	37	19	49519449	49519449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:49519449G>A	ENST00000221421.2	-	3	301	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	101					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	CACAGGGAAGGAGACCACGGG	0.672000													5	104					0	0	0.000602	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													3	16					0	0	0.004672	0	0
CEP97	79598	broad.mit.edu	37	3	101476483	101476483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:101476483G>A	ENST00000341893.3	+	9	1785	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	CEP97_ENST00000327230.4_Missense_Mutation_p.V345I|CEP97_ENST00000494050.1_Intron			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	345	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TCTAGAACCCGTCATTCAAGT	0.323000													10	45					0	0	0.000443	0	0
OR2W3	343171	broad.mit.edu	37	1	248059699	248059699	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:248059699G>A	ENST00000537741.1	+	3	1068	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	OR2W3_ENST00000360358.3_Missense_Mutation_p.G271S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGACCAGGGCATGTTCCT	0.532000													24	80					0	0	0.001061	0	0
ZNF208	7757	broad.mit.edu	37	19	22156838	22156838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:22156838G>A	ENST00000397126.4	-	4	1146	c.998C>T	c.(997-999)gCa>gTa	p.A333V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCATGAATTGCCTTATGTGT	0.393000													42	59					0	0	0.001951	0	0
RYR2	6262	broad.mit.edu	37	1	237813233	237813233	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:237813233C>T	ENST00000366574.2	+	50	7886	c.7569C>T	c.(7567-7569)gcC>gcT	p.A2523A	RYR2_ENST00000360064.6_Silent_p.A2521A|RYR2_ENST00000542537.1_Silent_p.A2507A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2523	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCACAGCCGTCTTGCCAT	0.463000													41	118					0	0	0.002222	0	0
CENPT	80152	broad.mit.edu	37	16	67862656	67862656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67862656C>G	ENST00000562787.1	-	14	1919	c.1371G>C	c.(1369-1371)aaG>aaC	p.K457N	CENPT_ENST00000219172.3_Missense_Mutation_p.K457N|CENPT_ENST00000564817.1_Missense_Mutation_p.K402N|CENPT_ENST00000440851.2_Missense_Mutation_p.K457N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	457					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCAGTCCAGCCTTGTGGGGAT	0.587000													12	171					0	0	0.001368	0	0
CPT1C	126129	broad.mit.edu	37	19	50209265	50209265	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:50209265C>A	ENST00000392518.4	+	11	1436	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	CPT1C_ENST00000405931.2_Missense_Mutation_p.P344Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.P355Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.P355Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.P355Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	355					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGCTTTCCCCGAGAGCCCTG	0.612000													4	69					0.00024832	0.000460486	0.000248	1	0
C11orf16	56673	broad.mit.edu	37	11	8948556	8948556	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:8948556C>G	ENST00000326053.5	-	4	596	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E164Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	164										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGGCCTGGCTCCCAGAGTGCC	0.547000													9	40					0	0	0.000978	0	0
PPFIA2	8499	broad.mit.edu	37	12	81661805	81661805	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:81661805T>C	ENST00000550584.2	-	28	3667	c.3372A>G	c.(3370-3372)gaA>gaG	p.E1124E	PPFIA2_ENST00000552948.1_Silent_p.E1103E|PPFIA2_ENST00000550359.2_Silent_p.E971E|PPFIA2_ENST00000407050.4_Silent_p.E1023E|PPFIA2_ENST00000541570.2_Silent_p.E660E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Silent_p.E1112E|PPFIA2_ENST00000443686.3_Silent_p.E1019E|PPFIA2_ENST00000541017.1_Silent_p.E310E|PPFIA2_ENST00000549325.1_Silent_p.E1109E|PPFIA2_ENST00000549396.1_Silent_p.E1124E|PPFIA2_ENST00000548586.1_Silent_p.E1118E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1023										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATTTGCATATTCTCGAAGTC	0.393000													4	8					0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113585856	113585856	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:113585856G>A	ENST00000297405.5	-	24	4160	c.3916C>T	c.(3916-3918)Cta>Tta	p.L1306L	CSMD3_ENST00000343508.3_Silent_p.L1266L|CSMD3_ENST00000352409.3_Silent_p.L1306L|CSMD3_ENST00000455883.2_Silent_p.L1202L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1306	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCACCTAGTAGATGAGTCGTT	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	43					0	0	0.002780	0	0
SNRNP200	23020	broad.mit.edu	37	2	96953231	96953231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:96953231C>T	ENST00000323853.5	-	26	3507	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1144	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCTTCTTCTCAATCTTCTTC	0.517000													31	55					0	0	0.001786	0	0
SRPR	6734	broad.mit.edu	37	11	126136385	126136385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:126136385C>T	ENST00000332118.6	-	6	980	c.826G>A	c.(826-828)Gag>Aag	p.E276K	SRPR_ENST00000532259.1_Missense_Mutation_p.E248K	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	276					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTGATGTCCTCAGACAAGGCA	0.488000													15	71					0	0	0.002450	0	0
CES1	1066	broad.mit.edu	37	16	55862770	55862770	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:55862770C>A	ENST00000422046.2	-	2	447	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	CES1_ENST00000361503.4_Missense_Mutation_p.A56S|CES1_ENST00000360526.3_Missense_Mutation_p.A57S			P23141	EST1_HUMAN	carboxylesterase 1	56				A -> G (in Ref. 2; AAA16036/AAA35711).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGCGGCTTGGCAAAAGGGATT	0.557000													11	64					3.86212e-05	7.27341e-05	0.000673	1	0
ZDHHC19	131540	broad.mit.edu	37	3	195925231	195925231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:195925231G>A	ENST00000296326.3	-	7	944	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	289						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGGGGTTGAGAGCAGAGGGG	0.632000													9	50					0	0	0.000673	0	0
EPHX1	2052	broad.mit.edu	37	1	226033041	226033041	+	Missense_Mutation	SNP	G	G	A	rs2234701		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:226033041G>A	ENST00000366837.4	+	9	1557	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.R454Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	454			R -> Q (in allele EPHX1*5; dbSNP:rs2234701).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGCTGGAGCGGCAATGACCC	0.607000													11	23					0	0	0.000978	0	0
CDH10	1008	broad.mit.edu	37	5	24593411	24593411	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:24593411T>G	ENST00000264463.4	-	2	696	c.189A>C	c.(187-189)ttA>ttC	p.L63F	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	63	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTCTTCAAGTAAGAAAAATT	0.363000										HNSCC(23;0.051)			16	94					0	0	0.000958	0	0
NLRP6	171389	broad.mit.edu	37	11	281335	281335	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:281335C>A	ENST00000534750.1	+	4	1806	c.1601C>A	c.(1600-1602)gCc>gAc	p.A534D	NLRP6_ENST00000312165.5_Missense_Mutation_p.A534D	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	534						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGTGGGGACGCCCAGCCGCAC	0.687000													12	16					1.5842e-08	3.1684e-08	0.001855	1	0
SLC18A1	6570	broad.mit.edu	37	8	20008242	20008242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:20008242C>A	ENST00000440926.1	-	12	1499	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	SLC18A1_ENST00000381608.4_Missense_Mutation_p.L343F|SLC18A1_ENST00000276373.5_Missense_Mutation_p.L343F|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L311F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L343F|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L311F	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	343					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CACTGGCAGGCAAGAAAGCTA	0.498000													20	70					1.56452e-12	3.22225e-12	0.000958	1	0
SBF2	81846	broad.mit.edu	37	11	10064472	10064472	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:10064472A>G	ENST00000256190.8	-	3	335	c.198T>C	c.(196-198)ttT>ttC	p.F66F	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	66	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGACAACCACAAAGAACGTTG	0.403000													23	29					0	0	0.002780	0	0
CNST	163882	broad.mit.edu	37	1	246810610	246810610	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:246810610C>T	ENST00000366513.4	+	9	1376	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.A369A	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	369					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GCGCTGAAGCCACGTTAGCGC	0.587000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	97					0	0	0.001951	0	0
TRGV3	6976	broad.mit.edu	37	7	38398165	38398165	+	RNA	SNP	T	T	C	rs2392554		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:38398165T>C	ENST00000390346.2	-	0	484																											AATTAGATTTTGCAGTCTCAA	0.468000													43	105					0	0	0.002222	0	0
SEMA4A	64218	broad.mit.edu	37	1	156142765	156142765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:156142765G>A	ENST00000368285.3	+	11	1550	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	SEMA4A_ENST00000368286.2_Missense_Mutation_p.G296E|SEMA4A_ENST00000355014.2_Missense_Mutation_p.G428E|SEMA4A_ENST00000368282.1_Missense_Mutation_p.G428E|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G296E	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	428	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGCCTTGATGGGCACAGCCAT	0.577000													11	41					0	0	0.000978	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59894929	59894929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:59894929G>T	ENST00000265036.5	-	10	1468	c.1401C>A	c.(1399-1401)aaC>aaA	p.N467K	DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTTTCTCTTTGTTGGAGAGTT	0.343000													8	13					0.000157383	0.000292975	0.003080	1	0
YTHDF3	253943	broad.mit.edu	37	8	64099527	64099527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:64099527C>T	ENST00000539294.1	+	4	1271	c.955C>T	c.(955-957)Caa>Taa	p.Q319*	YTHDF3_ENST00000542911.2_Nonsense_Mutation_p.Q130*|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	320												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CCAACTGCCTCAACAGCAGCC	0.547000													8	24					0	0	0.004482	0	0
TRMT12	55039	broad.mit.edu	37	8	125463521	125463521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:125463521G>T	ENST00000328599.3	+	1	474	c.353G>T	c.(352-354)cGg>cTg	p.R118L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	118					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGGAGGGTCGGGGAGTCAAG	0.557000													5	94					0.00116845	0.00213407	0.001168	1	0
CRB2	286204	broad.mit.edu	37	9	126132410	126132410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:126132410G>A	ENST00000373631.3	+	7	1079	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	CRB2_ENST00000359999.3_Missense_Mutation_p.D360N|CRB2_ENST00000373629.2_Missense_Mutation_p.D28N	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	360	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGAAGATGTGGATGAATGCCT	0.572000													23	75					0	0	0.002299	0	0
LILRA5	353514	broad.mit.edu	37	19	54823182	54823182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:54823182G>A	ENST00000301219.3	-	4	480	c.361C>T	c.(361-363)Cct>Tct	p.P121S	LILRA5_ENST00000446712.3_Missense_Mutation_p.P109S|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.P109S|LILRA5_ENST00000432233.3_Missense_Mutation_p.P121S	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	121	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTGCAGGGCTGTAGTAG	0.612000													48	141					0	0	0.003610	0	0
MYO1C	4641	broad.mit.edu	37	17	1375450	1375450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:1375450G>A	ENST00000359786.5	-	18	2194	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C	MYO1C_ENST00000438665.2_Missense_Mutation_p.R605C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R600C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R589C|MYO1C_ENST00000575158.1_Missense_Mutation_p.R589C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	624	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTGATGCAGCGGACGTAGGCG	0.657000													5	112					0	0	0.000602	0	0
RPS27L	51065	broad.mit.edu	37	15	63447855	63447855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:63447855C>T	ENST00000330964.5	-	3	587	c.191G>A	c.(190-192)tGc>tAc	p.C64Y	RPS27L_ENST00000462430.1_Missense_Mutation_p.C80Y|RPS27L_ENST00000411926.1_Missense_Mutation_p.C32Y|RPS27L_ENST00000455271.1_Missense_Mutation_p.C32Y|RPS27L_ENST00000439025.1_Missense_Mutation_p.C64Y|RPS27L_ENST00000559763.1_5'UTR	NM_015920.3	NP_057004.1	Q71UM5	RS27L_HUMAN	ribosomal protein S27-like	64					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity			large_intestine(1)	1						TGTAGGCTGGCACAACACTGT	0.413000													5	66					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	215847971	215847971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:215847971C>T	ENST00000366943.2	-	63	13668	c.13282G>A	c.(13282-13284)Ggt>Agt	p.G4428S	USH2A_ENST00000307340.3_Missense_Mutation_p.G4428S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4428	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTGCAACCTCCATTCGTG	0.512000										HNSCC(13;0.011)			4	53					0	0	0.000248	0	0
AKAP9	10142	broad.mit.edu	37	7	91691800	91691800	+	Splice_Site	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:91691800C>T	ENST00000359028.2	+	25	6238	c.6013_splice	c.e25+1	p.Q2005_splice	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Splice_Site_p.Q2005_splice|AKAP9_ENST00000356239.3_Splice_Site_p.Q1993_splice			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2005	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTTGAACAACGTAAGTATTT	0.393000			T	BRAF	papillary thyroid								5	56					0	0	0.000602	0	0
DKK1	22943	broad.mit.edu	37	10	54074846	54074846	+	Splice_Site	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:54074846G>T	ENST00000373970.3	+	2	545		c.e2+1		DKK1_ENST00000467359.1_Splice_Site	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1						negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGCAAAAATGGTGAGTCCTGA	0.587000													6	37					3.59834e-05	6.8031e-05	0.001168	1	0
NLRP9	338321	broad.mit.edu	37	19	56220313	56220313	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:56220313C>G	ENST00000332836.2	-	9	2968	c.2941G>C	c.(2941-2943)Gac>Cac	p.D981H	CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	981						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TATTCCTCGTCAATCCAAGGT	0.488000													9	72					0	0	0.004482	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198650	233198650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:233198650G>A	ENST00000325385.7	+	17	2387	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R704H	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	704							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCGCCCATCCGCCGCTTTGCC	0.667000													10	94					0	0	0.000978	0	0
ENTPD4	9583	broad.mit.edu	37	8	23302048	23302048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:23302048C>G	ENST00000358689.4	-	5	719	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ENTPD4_ENST00000356206.6_Missense_Mutation_p.E162Q|ENTPD4_ENST00000417069.2_Missense_Mutation_p.E162Q	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	162					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGCACATGCTCTGCAGCAAAG	0.453000													4	68					0	0	0.000248	0	0
PCLO	27445	broad.mit.edu	37	7	82784624	82784624	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:82784624C>A	ENST00000423517.2	-	2	1670	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	PCLO_ENST00000333891.8_Missense_Mutation_p.G445W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	396	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTGGCCCAGGCTGCTGA	0.577000													46	87					1.8453e-21	3.98716e-21	0.002522	1	0
MYH11	4629	broad.mit.edu	37	16	15820749	15820749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:15820749C>T	ENST00000338282.6	-	28	3920	c.3814G>A	c.(3814-3816)Gag>Aag	p.E1272K	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.E1279K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1279K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1272K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1272K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1272					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGGGCCCGCTCCCCATCGCTG	0.647000			T	CBFB	AML								6	150					0	0	0.001168	0	0
KRT36	8689	broad.mit.edu	37	17	39644611	39644611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:39644611C>T	ENST00000393986.2	-	4	645	c.433G>A	c.(433-435)Gac>Aac	p.D145N	KRT36_ENST00000328119.6_Missense_Mutation_p.D195N			O76013	KRT36_HUMAN	keratin 36	195	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCGTTGATGTCGGCCTCCACT	0.592000													40	70					0	0	0.001485	0	0
CEP152	22995	broad.mit.edu	37	15	49054851	49054851	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:49054851G>C	ENST00000380950.2	-	18	2486	c.2299C>G	c.(2299-2301)Caa>Gaa	p.Q767E	CEP152_ENST00000325747.5_Missense_Mutation_p.Q674E|CEP152_ENST00000399334.3_Missense_Mutation_p.Q767E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	767					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTGTTGAATGAGTTTT	0.348000													39	31					0	0	0.005524	0	0
KIF24	347240	broad.mit.edu	37	9	34310897	34310897	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:34310897T>C	ENST00000379166.2	-	2	567	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	KIF24_ENST00000345050.2_Missense_Mutation_p.K150E|KIF24_ENST00000379174.3_Missense_Mutation_p.K150E|KIF24_ENST00000402558.2_Missense_Mutation_p.K150E	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	150					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCCTGTTTTTGTATGGTAC	0.403000													28	124					0	0	0.001271	0	0
PPFIA1	8500	broad.mit.edu	37	11	70176348	70176348	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:70176348C>T	ENST00000253925.7	+	8	1215	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R334C	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	334					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGCTGCACAGCGTGAAGCCAC	0.398000													23	42					0	0	0.002299	0	0
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:184046477C>T	ENST00000342981.4	+	26	4429	c.4015C>T	c.(4015-4017)Ctc>Ttc	p.L1339F	EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345F|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532000													8	189					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179571657	179571657	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:179571657G>T	ENST00000589042.1	-	101	29290	c.29066C>A	c.(29065-29067)aCc>aAc	p.T9689N	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T8445N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T9372N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9372	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTTCTTGGTTGCTGGGGC	0.393000													5	13					5.9392e-07	1.16379e-06	0.001168	1	0
PDE4B	5142	broad.mit.edu	37	1	66798150	66798150	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:66798150G>T	ENST00000371045.5	+	1	464	c.78G>T	c.(76-78)caG>caT	p.Q26H	PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	NM_001037339.1	NP_001032416.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	202					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACAGCCTGCAGCCGCTCCAGC	0.507000													21	35					7.21436e-19	1.53147e-18	0.001216	1	0
THBD	7056	broad.mit.edu	37	20	23029759	23029759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:23029759T>C	ENST00000377103.2	-	1	619	c.383A>G	c.(382-384)aAt>aGt	p.N128S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	128	C-type lectin.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGGAGCCCCATTGAGGTCGAG	0.677000													3	8					0	0	0.004672	0	0
TGFB2	7042	broad.mit.edu	37	1	218520300	218520300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:218520300C>T	ENST00000366929.4	+	1	724	c.257C>T	c.(256-258)gCg>gTg	p.A86V	TGFB2_ENST00000366930.4_Missense_Mutation_p.A86V	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	86					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCCGGAGGGCGGCCGCCTGC	0.587000													13	21					0	0	0.001368	0	0
MTA1	9112	broad.mit.edu	37	14	105920571	105920571	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:105920571G>A	ENST00000331320.7	+	7	688	c.474G>A	c.(472-474)aaG>aaA	p.K158K	MTA1_ENST00000406191.1_Silent_p.K158K|MTA1_ENST00000405646.1_Silent_p.K141K	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	158	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CACAGCAGAAGACCCTGCTGG	0.537000													10	49					0	0	0.000673	0	0
CDK12	51755	broad.mit.edu	37	17	37673784	37673784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:37673784A>G	ENST00000447079.4	+	10	2971	c.2938A>G	c.(2938-2940)Agg>Ggg	p.R980G	CDK12_ENST00000430627.2_Missense_Mutation_p.R980G	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	980	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCAATATCGAAGGCGTCTACG	0.473000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			26	88					0	0	0.003330	0	0
RPH3AL	9501	broad.mit.edu	37	17	171088	171088	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:171088C>T	ENST00000323434.8	-	4	793	c.196G>A	c.(196-198)Gac>Aac	p.D66N	RPH3AL_ENST00000536489.2_Missense_Mutation_p.D66N|RPH3AL_ENST00000331302.7_Missense_Mutation_p.D66N	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	66	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TCCAGGACGTCGAGCCGCTCT	0.682000													29	75					0	0	0.001271	0	0
HMCN1	83872	broad.mit.edu	37	1	186158872	186158872	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:186158872G>A	ENST00000271588.4	+	107	16999	c.16770G>A	c.(16768-16770)gtG>gtA	p.V5590V	HMCN1_ENST00000367492.2_Silent_p.V5473V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5590					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAAGGAGTGGTGTATACAA	0.493000													19	32					0	0	0.006122	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165036	30165036	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:30165036A>C	ENST00000436066.3	+	2	756	c.290A>C	c.(289-291)aAg>aCg	p.K97T	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.K97T	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	97	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CTGCAGGCCAAGAACCGCTGG	0.602000													22	27					0	0	0.002299	0	0
MYOM2	9172	broad.mit.edu	37	8	2044180	2044180	+	Missense_Mutation	SNP	C	C	T	rs149624495	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:2044180C>T	ENST00000262113.4	+	18	2360	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L	MYOM2_ENST00000523438.1_Missense_Mutation_p.S165L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	740	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTGGTGGCTCGCCCATCCTG	0.557000													36	46					0	0	0.004289	0	0
CLN8	2055	broad.mit.edu	37	8	1719415	1719415	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:1719415C>T	ENST00000331222.4	+	2	442	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	65	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCTTCTGGGACCTGGCGGCCA	0.612000													11	42					0	0	0.000673	0	0
PLD5	200150	broad.mit.edu	37	1	242451674	242451674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:242451674G>A	ENST00000442594.2	-	4	718	c.209C>T	c.(208-210)tCa>tTa	p.S70L	PLD5_ENST00000427495.1_Missense_Mutation_p.S100L|PLD5_ENST00000536534.1_Missense_Mutation_p.S162L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	162						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTGACATGCTGATGGATGAGT	0.428000													12	64					0	0	0.001368	0	0
MAGEA1	4100	broad.mit.edu	37	X	152483002	152483002	+	Silent	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:152483002A>T	ENST00000356661.5	-	3	227	c.9T>A	c.(7-9)ctT>ctA	p.L3L		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	3						cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGCTCAAGAGACATGA	0.622000													36	18					0	0	0.003755	0	0
STK31	56164	broad.mit.edu	37	7	23809341	23809341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:23809341C>A	ENST00000354639.3	+	13	2074	c.1610C>A	c.(1609-1611)tCa>tAa	p.S537*	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Nonsense_Mutation_p.S560*|STK31_ENST00000433467.2_Nonsense_Mutation_p.S560*|STK31_ENST00000428484.1_Nonsense_Mutation_p.S537*	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	560							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGACTGAGTCAAGTGTCTGC	0.378000													36	96					3.21399e-22	6.97567e-22	0.004878	1	0
ZNF654	55279	broad.mit.edu	37	3	88188518	88188518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:88188518C>T	ENST00000309495.5	+	1	265	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCAGGCTCATCAGAAAAAAGG	0.383000													10	21					0	0	0.000978	0	0
CD200R1	131450	broad.mit.edu	37	3	112648206	112648206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:112648206C>G	ENST00000471858.1	-	3	514	c.282G>C	c.(280-282)gaG>gaC	p.E94D	CD200R1_ENST00000308611.3_Missense_Mutation_p.E117D|CD200R1_ENST00000440122.2_Missense_Mutation_p.E117D|CD200R1_ENST00000490004.1_Missense_Mutation_p.E94D|CD200R1_ENST00000295863.4_Missense_Mutation_p.E72D	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	94	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTTCCTTGGTCTCATTTGTTT	0.448000													8	109					0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57327825	57327825	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:57327825C>A	ENST00000326441.9	-	10	2348	c.1985G>T	c.(1984-1986)tGt>tTt	p.C662F	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C662F|PEG3_ENST00000598410.1_Missense_Mutation_p.C538F|PEG3_ENST00000593695.1_Missense_Mutation_p.C536F|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	662					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTCCTCACACACTTTACC	0.438000													27	91					1.26454e-06	2.4679e-06	0.005443	1	0
KMT2A	4297	broad.mit.edu	37	11	118392789	118392789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:118392789G>A	ENST00000534358.1	+	36	11844	c.11821G>A	c.(11821-11823)Gag>Aag	p.E3941K	RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.E3938K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3900K|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTACCGAGGAGAGGAACTCAC	0.478000													12	70					0	0	0.001368	0	0
FGF12	2257	broad.mit.edu	37	3	191888366	191888366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:191888366C>T	ENST00000454309.2	-	4	1319	c.494G>A	c.(493-495)cGc>cAc	p.R165H	FGF12_ENST00000445105.1_Missense_Mutation_p.R103H|FGF12_ENST00000450716.1_Missense_Mutation_p.R103H|FGF12_ENST00000264730.3_Missense_Mutation_p.R103H|FGF12_ENST00000430714.1_Missense_Mutation_p.R66H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	165					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCTTGCTGGCGGTACAGTGT	0.393000													13	293					0	0	0.001368	0	0
UCK2	7371	broad.mit.edu	37	1	165860556	165860556	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:165860556C>G	ENST00000367879.4	+	3	656	c.353C>G	c.(352-354)tCc>tGc	p.S118C	UCK2_ENST00000372212.4_Missense_Mutation_p.S118C	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	118					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GTCTCCCATTCCCGGTAAGTG	0.502000													7	20					0	0	0.001984	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	45					0	0	0.000602	0	0
ZIC5	85416	broad.mit.edu	37	13	100622499	100622499	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:100622499C>G	ENST00000267294.4	-	1	1664	c.1431G>C	c.(1429-1431)aaG>aaC	p.K477N		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	477					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTTGATGAGCTTGTATTTGG	0.642000													5	113					0	0	0.000602	0	0
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408000													3	72					0	0	0.004672	0	0
TBCD	6904	broad.mit.edu	37	17	80865685	80865685	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:80865685G>A	ENST00000355528.4	+	21	2101	c.1971G>A	c.(1969-1971)caG>caA	p.Q657Q	TBCD_ENST00000539345.2_Silent_p.Q657Q|TBCD_ENST00000397466.2_Silent_p.Q271Q	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	657					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGAAGCAGATTCACCAGC	0.617000													4	13					0	0	0.000602	0	0
CPNE1	8904	broad.mit.edu	37	20	34214297	34214297	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:34214297G>A	ENST00000317619.3	-	18	1874	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	CPNE1_ENST00000397445.1_Missense_Mutation_p.R494W|CPNE1_ENST00000317677.5_Missense_Mutation_p.R499W|CPNE1_ENST00000397446.1_Missense_Mutation_p.R494W|CPNE1_ENST00000397442.1_Missense_Mutation_p.R438W|CPNE1_ENST00000397443.1_Missense_Mutation_p.R494W|CPNE1_ENST00000352393.4_Missense_Mutation_p.R494W			Q99829	CPNE1_HUMAN	copine I	494	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AATGCCTCCCGAGGGGCCTGC	0.572000													27	67					0	0	0.001271	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629472	155629472	+	Silent	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:155629472T>A	ENST00000368340.5	-	10	2691	c.2583A>T	c.(2581-2583)acA>acT	p.T861T	YY1AP1_ENST00000368339.5_Silent_p.T881T|YY1AP1_ENST00000407221.1_Silent_p.T712T|YY1AP1_ENST00000295566.4_Silent_p.T789T|YY1AP1_ENST00000404643.1_Silent_p.T723T|YY1AP1_ENST00000368330.2_Silent_p.T743T|YY1AP1_ENST00000361831.5_Silent_p.T732T|YY1AP1_ENST00000355499.4_Silent_p.T743T|YY1AP1_ENST00000347088.5_Silent_p.T743T|YY1AP1_ENST00000311573.5_Silent_p.T712T|YY1AP1_ENST00000535662.1_Silent_p.T589T|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Silent_p.T732T	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGATTTCCTCTGTAGCATCTT	0.507000													7	213					0	0	0.001984	0	0
GRID2	2895	broad.mit.edu	37	4	94145828	94145828	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:94145828G>A	ENST00000282020.4	+	7	1285	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	GRID2_ENST00000510992.1_Missense_Mutation_p.E248K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	343					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TAAGAAGCTGGAGGACCGAAA	0.443000													10	18					0	0	0.000443	0	0
MICAL3	57553	broad.mit.edu	37	22	18384651	18384651	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:18384651G>A	ENST00000441493.2	-	5	1036	c.684C>T	c.(682-684)acC>acT	p.T228T	MICAL3_ENST00000383094.3_Silent_p.T228T|MICAL3_ENST00000207726.7_Silent_p.T228T|MICAL3_ENST00000444520.1_Silent_p.T228T|MICAL3_ENST00000400561.2_Silent_p.T228T|MICAL3_ENST00000429452.1_Silent_p.T228T|MICAL3_ENST00000585038.1_Silent_p.T228T|MICAL3_ENST00000414725.2_Silent_p.T228T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	228						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TACCTTCCAAGGTGTTCCTCC	0.562000													6	29					0	0	0.003080	0	0
STAG1	10274	broad.mit.edu	37	3	136221571	136221571	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:136221571G>T	ENST00000383202.2	-	8	983	c.727C>A	c.(727-729)Cat>Aat	p.H243N	STAG1_ENST00000236698.5_Missense_Mutation_p.H243N|STAG1_ENST00000434713.2_Missense_Mutation_p.H17N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	243					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTATCCTGATGAATACTGAGG	0.363000													9	60					5.4927e-09	1.1031e-08	0.004482	1	0
COL14A1	7373	broad.mit.edu	37	8	121282288	121282288	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:121282288A>G	ENST00000297848.3	+	26	3358	c.3088A>G	c.(3088-3090)Aag>Gag	p.K1030E	COL14A1_ENST00000247781.3_Missense_Mutation_p.K935E|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1030E|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1030					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGGCGGCCAAGGCTGACCT	0.403000													5	55					0	0	0.001984	0	0
ZNF100	163227	broad.mit.edu	37	19	21909734	21909734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:21909734G>T	ENST00000358296.6	-	5	1578	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	ZNF100_ENST00000305570.6_Missense_Mutation_p.D396E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGCCACATTCGTCACATTTGT	0.408000													11	89					6.40141e-05	0.000120088	0.000978	1	0
MATN4	8785	broad.mit.edu	37	20	43929779	43929779	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:43929779C>T	ENST00000537548.1	-	6	1096	c.852G>A	c.(850-852)gaG>gaA	p.E284E	MATN4_ENST00000372751.4_Silent_p.E135E|MATN4_ENST00000372754.1_Silent_p.E325E|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372753.1_Silent_p.E135E|MATN4_ENST00000342716.4_Silent_p.E284E|MATN4_ENST00000372756.1_Silent_p.E284E|MATN4_ENST00000360607.5_Silent_p.E243E			O95460	MATN4_HUMAN	matrilin 4	325	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGTCATGGCCCTCTCTGCAGT	0.582000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	51					0	0	0.001984	0	0
GNL3	26354	broad.mit.edu	37	3	52723170	52723170	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:52723170G>A	ENST00000394799.2	+	6	663	c.453G>A	c.(451-453)gaG>gaA	p.E151E	GNL3_ENST00000418458.1_Silent_p.E163E	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	163					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGGTAGAAGAGGCCATTGTCC	0.448000													13	83					0	0	0.001368	0	0
TMEM150C	441027	broad.mit.edu	37	4	83411227	83411227	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:83411227G>A	ENST00000449862.2	-	7	846	c.528C>T	c.(526-528)ctC>ctT	p.L176L	TMEM150C_ENST00000515780.1_Silent_p.L176L	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	176						integral to membrane				ovary(1)	1						GGACCACACAGAGAGTGATAG	0.463000													17	33					0	0	0.001216	0	0
CDK15	65061	broad.mit.edu	37	2	202744779	202744779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:202744779C>A	ENST00000450471.2	+	12	1173	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	CDK15_ENST00000260967.2_Missense_Mutation_p.L312M|CDK15_ENST00000374598.4_Missense_Mutation_p.L363M|CDK15_ENST00000410091.3_Missense_Mutation_p.L312M|CDK15_ENST00000434439.1_Missense_Mutation_p.L363M	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	363	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGCTGAAGACCTGGCCTCCCA	0.507000													8	29					1.11149e-13	2.3188e-13	0.000673	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885013	24885013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:24885013C>T	ENST00000382554.3	+	9	4376	c.4058C>T	c.(4057-4059)gCc>gTc	p.A1353V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1353					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAACCTATGCCCACCTGGCA	0.607000													16	131					0	0	0.003163	0	0
GRID1	2894	broad.mit.edu	37	10	87407143	87407143	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:87407143T>G	ENST00000327946.7	-	13	2094	c.2009A>C	c.(2008-2010)gAc>gCc	p.D670A	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.D241A	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	670						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTTGGACAGGTCCTGGAAAGT	0.522000										Multiple Myeloma(13;0.14)			14	153					0	0	0.001855	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39412084	39412084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:39412084C>A	ENST00000394008.1	+	1	449	c.447C>A	c.(445-447)tgC>tgA	p.C149*		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	149						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGACCACCTGCTGCAGGACCA	0.602000													78	170					3.54697e-40	7.83896e-40	0.003610	1	0
DPF2	5977	broad.mit.edu	37	11	65108938	65108938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:65108938C>T	ENST00000528416.1	+	4	503	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	DPF2_ENST00000252268.4_Missense_Mutation_p.R124C|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Missense_Mutation_p.R124C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	124					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GGCTCTGTTGCGCACTGACCC	0.567000													10	40					0	0	0.000443	0	0
PLD1	5337	broad.mit.edu	37	3	171451288	171451288	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:171451288T>C	ENST00000356327.5	-	6	622	c.552A>G	c.(550-552)gaA>gaG	p.E184E	PLD1_ENST00000351298.4_Silent_p.E184E|PLD1_ENST00000342215.6_Silent_p.E184E|PLD1_ENST00000340989.4_Silent_p.E184E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	184	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCAAGTAATCTTCCAGTTGTT	0.284000													4	37					0	0	0.000602	0	0
RNF145	153830	broad.mit.edu	37	5	158588301	158588301	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:158588301G>T	ENST00000424310.2	-	10	1958	c.1599C>A	c.(1597-1599)caC>caA	p.H533Q	RNF145_ENST00000518802.1_Missense_Mutation_p.H563Q|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000519865.1_Missense_Mutation_p.H533Q|RNF145_ENST00000274542.2_Missense_Mutation_p.H561Q|RNF145_ENST00000521606.2_Missense_Mutation_p.H550Q|RNF145_ENST00000520638.1_Missense_Mutation_p.H547Q	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	533						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATATCATTGTGTTTCTCAA	0.433000													6	39					2.7689e-08	5.515e-08	0.001984	1	0
PLXNB2	23654	broad.mit.edu	37	22	50727541	50727541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:50727541C>T	ENST00000449103.1	-	4	1239	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E367K			O15031	PLXB2_HUMAN	plexin B2	367	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGTGCTCCGAGCCACAT	0.692000													7	9					0	0	0.001984	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330022	88330022	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:88330022G>A	ENST00000325089.6	+	2	2598	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	SLITRK5_ENST00000400028.3_Silent_p.Q552Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	793						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCTgcagcagcagcagc	0.662000													12	18					0	0	0.001855	0	0
CBX1	10951	broad.mit.edu	37	17	46153470	46153470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:46153470G>A	ENST00000393408.3	-	3	691	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	CBX1_ENST00000495350.1_Nonsense_Mutation_p.Q71*|CBX1_ENST00000225603.4_Nonsense_Mutation_p.Q71*	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	71	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GCTGTTTTCTGTGACTGCAGA	0.483000													15	74					0	0	0.002450	0	0
XAB2	56949	broad.mit.edu	37	19	7685195	7685195	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:7685195C>A	ENST00000358368.4	-	16	2269	c.2232G>T	c.(2230-2232)caG>caT	p.Q744H	XAB2_ENST00000534844.1_Missense_Mutation_p.Q741H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	744					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCTTGAGCATCTGCGAGGCCA	0.627000								Direct reversal of damage;Nucleotide excision repair (NER)					6	43					3.59834e-05	6.8031e-05	0.001168	1	0
PDE4B	5142	broad.mit.edu	37	1	66798151	66798151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:66798151C>T	ENST00000371045.5	+	1	465	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	NM_001037339.1	NP_001032416.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	203					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CAGCCTGCAGCCGCTCCAGCC	0.507000													20	34					0	0	0.000958	0	0
DENND5B	160518	broad.mit.edu	37	12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443000													10	20					0	0	0.000443	0	0
ZNF208	7757	broad.mit.edu	37	19	22156525	22156525	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:22156525G>A	ENST00000397126.4	-	4	1459	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.378000													24	75					0	0	0.003954	0	0
PARP15	165631	broad.mit.edu	37	3	122345843	122345843	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:122345843A>G	ENST00000464300.2	+	9	1467	c.1401A>G	c.(1399-1401)gcA>gcG	p.A467A	PARP15_ENST00000310366.4_Silent_p.A233A|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	445	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACCTCTCTGCATCACTGAACT	0.353000													8	47					0	0	0.004482	0	0
MID1	4281	broad.mit.edu	37	X	10437743	10437743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:10437743C>T	ENST00000317552.4	-	7	1679	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	MID1_ENST00000380785.1_Missense_Mutation_p.V427I|MID1_ENST00000380782.2_Missense_Mutation_p.V427I|MID1_ENST00000453318.2_Missense_Mutation_p.V427I|MID1_ENST00000380779.1_Missense_Mutation_p.V427I|MID1_ENST00000380787.1_Missense_Mutation_p.V427I|MID1_ENST00000380780.1_Missense_Mutation_p.V427I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	427	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCACTAACGACGTTGGCTTGT	0.443000													21	37					0	0	0.001882	0	0
CEP85L	387119	broad.mit.edu	37	6	118887417	118887417	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:118887417T>C	ENST00000368491.3	-	3	916	c.295A>G	c.(295-297)Act>Gct	p.T99A	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.T102A|CEP85L_ENST00000419517.2_Missense_Mutation_p.T99A|CEP85L_ENST00000392500.3_Missense_Mutation_p.T102A	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	99						centrosome											ACATGGGCAGTAGGAAGAGTA	0.383000													6	27					0	0	0.001984	0	0
ACSS2	55902	broad.mit.edu	37	20	33470765	33470765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:33470765A>T	ENST00000360596.2	+	2	558	c.347A>T	c.(346-348)aAg>aTg	p.K116M	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000253382.5_Missense_Mutation_p.K116M|ACSS2_ENST00000336325.4_Missense_Mutation_p.K66M	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	116					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGAGAAAAAGCTTGGAGAT	0.353000													4	22					0	0	0.000248	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478140	42478140	+	Missense_Mutation	SNP	T	T	G	rs143765658	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:42478140T>G	ENST00000434000.1	-	9	1353	c.1071A>C	c.(1069-1071)aaA>aaC	p.K357N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.K435N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	435						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)		AACTGCCTTTTTTACTCTCTG	0.443000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	181					0	0	0.001855	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465121	5465121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:5465121C>T	ENST00000296564.7	+	13	5896	c.5674C>T	c.(5674-5676)Cca>Tca	p.P1892S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1892										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGTTCTAGTCCAGCCGTCAG	0.468000													6	27					0	0	0.001168	0	0
ZNF701	55762	broad.mit.edu	37	19	53086647	53086647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:53086647G>T	ENST00000540331.1	+	5	1758	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	ZNF701_ENST00000391785.3_Missense_Mutation_p.K445N|ZNF701_ENST00000301093.2_Missense_Mutation_p.K511N|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATGTGGCAAGGTTTTTAATC	0.348000													17	33					5.03518e-11	1.02828e-10	0.000958	1	0
TMEM132D	121256	broad.mit.edu	37	12	129563188	129563188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:129563188C>A	ENST00000422113.2	-	8	2332	c.2006G>T	c.(2005-2007)gGg>gTg	p.G669V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G207V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	669						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCACCCCGAGGTCTGT	0.582000													34	56					1.61788e-16	3.41945e-16	0.002445	1	0
EDC4	23644	broad.mit.edu	37	16	67917557	67917557	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67917557G>A	ENST00000358933.5	+	28	4175	c.3936G>A	c.(3934-3936)ccG>ccA	p.P1312P	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1312					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CACCCTGCCCGCTCTCCCAGC	0.587000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	186					0	0	0.002836	0	0
C16orf62	57020	broad.mit.edu	37	16	19586419	19586419	+	Splice_Site	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:19586419G>A	ENST00000438132.3	+	5	723		c.e5-1		C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000538853.1_Splice_Site	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCTCTGCAGAATCTGTTTA	0.294000													5	33					0	0	0.000602	0	0
BAG4	9530	broad.mit.edu	37	8	38066593	38066593	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38066593A>G	ENST00000287322.4	+	4	967	c.696A>G	c.(694-696)tcA>tcG	p.S232S	BAG4_ENST00000432471.2_Silent_p.S196S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	232					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTCCACAATCAGGACCGACTG	0.498000													6	26					0	0	0.003080	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375488	113375488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:113375488A>G	ENST00000316407.4	-	7	5451	c.5041T>C	c.(5041-5043)Tca>Cca	p.S1681P	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1681P|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1681					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTCTGCTCTGAATTAGAAGAT	0.413000													100	38					0	0	0.003610	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876609	139876609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:139876609C>G	ENST00000297183.6	+	15	2874	c.2750C>G	c.(2749-2751)cCa>cGa	p.P917R	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P917R|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P917R	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCTCCACCATCGGCAGAA	0.413000													32	44					0	0	0.002445	0	0
CORO7	79585	broad.mit.edu	37	16	4408429	4408429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:4408429C>T	ENST00000251166.4	-	24	2541	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	CORO7_ENST00000574025.1_Missense_Mutation_p.R714Q|CORO7_ENST00000537233.2_Missense_Mutation_p.R781Q|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R799Q|CORO7_ENST00000539968.1_Missense_Mutation_p.R579Q|CORO7-PAM16_ENST00000572274.1_5'UTR	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCGCAGGCACCGCATCAGCTC	0.697000													5	33					0	0	0.000602	0	0
MEI1	150365	broad.mit.edu	37	22	42128529	42128529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:42128529G>A	ENST00000401548.3	+	11	1293	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.R158H|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	418							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GATGCTGGCCGTGCCCTCCAA	0.552000													23	39					0	0	0.002299	0	0
CSMD1	64478	broad.mit.edu	37	8	4494992	4494992	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:4494992G>A	ENST00000602557.1	-	2	729	c.174C>T	c.(172-174)tgC>tgT	p.C58C	CSMD1_ENST00000537824.1_Silent_p.C58C|CSMD1_ENST00000539096.1_Silent_p.C58C|CSMD1_ENST00000542608.1_Silent_p.C58C|CSMD1_ENST00000520002.1_Silent_p.C58C|CSMD1_ENST00000602723.1_Silent_p.C58C|CSMD1_ENST00000400186.3_Silent_p.C58C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	58	CUB 1.					integral to membrane		p.C58C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATCCAGGTGCAGTTGGCAT	0.478000													5	79					0	0	0.000602	0	0
C11orf16	56673	broad.mit.edu	37	11	8947244	8947244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:8947244C>G	ENST00000326053.5	-	5	1076	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E324Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	324										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCTACTTTCTCCTCTTTAGGA	0.552000													13	55					0	0	0.003163	0	0
UBAP2	55833	broad.mit.edu	37	9	33927875	33927875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:33927875G>A	ENST00000379238.1	-	20	2408	c.2291C>T	c.(2290-2292)aCc>aTc	p.T764I	UBAP2_ENST00000379239.4_Missense_Mutation_p.T497I|UBAP2_ENST00000418786.2_3'UTR|UBAP2_ENST00000379235.1_Missense_Mutation_p.T3I|UBAP2_ENST00000539807.1_Missense_Mutation_p.T519I|UBAP2_ENST00000360802.1_Missense_Mutation_p.T764I|UBAP2_ENST00000449054.1_Missense_Mutation_p.T764I			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	764										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCTGTTCGCGGTGTTCATGCT	0.637000													30	44					0	0	0.001271	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786087	156786087	+	Splice_Site	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:156786087C>A	ENST00000442283.2	+	25	2882		c.e25+1		CYFIP2_ENST00000521420.1_Silent_p.I890I|CYFIP2_ENST00000541131.1_Silent_p.I841I|CYFIP2_ENST00000318218.6_Silent_p.I941I|CYFIP2_ENST00000347377.6_Silent_p.I916I|CYFIP2_ENST00000377576.3_Silent_p.I916I|CYFIP2_ENST00000522463.1_Silent_p.I720I|CYFIP2_ENST00000435847.2_Silent_p.I615I	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAAGACTATCTGCAGACTCC	0.488000													51	73					4.01344e-20	8.59515e-20	0.003610	1	0
FAM13A	10144	broad.mit.edu	37	4	89827587	89827587	+	Silent	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:89827587G>C	ENST00000264344.5	-	6	993	c.786C>G	c.(784-786)ccC>ccG	p.P262P	FAM13A_ENST00000511976.1_Silent_p.P53P|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	262					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTAAAAGGATGGGCAGGGAGT	0.368000													20	258					0	0	0.002780	0	0
IFIT5	24138	broad.mit.edu	37	10	91177111	91177111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:91177111C>T	ENST00000371795.4	+	2	368	c.155C>T	c.(154-156)gCt>gTt	p.A52V	IFIT5_ENST00000416601.1_Missense_Mutation_p.A52V	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	52							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCTAGACTTGCTCTTTATAAC	0.373000													8	60					0	0	0.004482	0	0
COL1A2	1278	broad.mit.edu	37	7	94054509	94054509	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:94054509C>T	ENST00000297268.6	+	42	3225	c.2754C>T	c.(2752-2754)aaC>aaT	p.N918N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	918					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGAGTCAACGGTGCTCCTG	0.522000										HNSCC(75;0.22)			4	43					0	0	0.000248	0	0
NUP214	8021	broad.mit.edu	37	9	134073597	134073597	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:134073597G>T	ENST00000359428.5	+	29	4860	c.4716G>T	c.(4714-4716)acG>acT	p.T1572T	NUP214_ENST00000451030.1_Silent_p.T1573T|NUP214_ENST00000411637.2_Silent_p.T1562T|NUP214_ENST00000483497.2_Silent_p.T398T			P35658	NU214_HUMAN	nucleoporin 214kDa	1572	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGCCACCACGGGGGTCCCTG	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								6	113					0.00116845	0.00213407	0.001168	1	0
GZMB	3002	broad.mit.edu	37	14	25100420	25100420	+	Splice_Site	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:25100420C>G	ENST00000216341.4	-	5	707	c.600_splice	c.e5-1	p.G201_splice	GZMB_ENST00000382542.1_Splice_Site_p.G235_splice|GZMB_ENST00000415355.3_Splice_Site_p.G189_splice|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Splice_Site_p.G156_splice			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	201	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCAGAGTCCCCCTGTGAATAG	0.557000													5	68					0	0	0.000602	0	0
FGFR1	2260	broad.mit.edu	37	8	38280635	38280635	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38280635G>A	ENST00000341462.5	-	8	1939	c.998C>T	c.(997-999)gCc>gTc	p.A333V	FGFR1_ENST00000532791.1_Intron|FGFR1_ENST00000447712.2_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000397103.1_Missense_Mutation_p.A241V|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000335922.5_Intron|FGFR1_ENST00000326324.6_Intron			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	334	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCGCTCTGGGCCTCTGTCAC	0.517000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						10	16					0	0	0.000673	0	0
DPP6	1804	broad.mit.edu	37	7	154561126	154561126	+	Splice_Site	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:154561126G>C	ENST00000404039.1	+	9	1278		c.e9-1		DPP6_ENST00000332007.3_Splice_Site|DPP6_ENST00000377770.3_Splice_Site|DPP6_ENST00000427557.1_Splice_Site	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTCCCTTAGAGGAGATTTT	0.512000													8	71					0	0	0.003080	0	0
SEMA3C	10512	broad.mit.edu	37	7	80432017	80432017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:80432017C>T	ENST00000265361.3	-	9	1441	c.880G>A	c.(880-882)Gat>Aat	p.D294N	SEMA3C_ENST00000536800.1_Missense_Mutation_p.D146N|SEMA3C_ENST00000419255.2_Missense_Mutation_p.D294N|SEMA3C_ENST00000544525.1_Missense_Mutation_p.D312N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	294	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGTCTTCATCTGTTACCGAG	0.383000													6	69					0	0	0.001984	0	0
RYR2	6262	broad.mit.edu	37	1	237675051	237675051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:237675051G>A	ENST00000366574.2	+	24	3099	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	RYR2_ENST00000360064.6_Missense_Mutation_p.E926K|RYR2_ENST00000542537.1_Missense_Mutation_p.E912K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	928	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGAACAGGAGCGCAATTA	0.403000													3	12					0	0	0.004672	0	0
ZEB1	6935	broad.mit.edu	37	10	31810429	31810429	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:31810429A>G	ENST00000446923.2	+	7	2509	c.2118A>G	c.(2116-2118)acA>acG	p.T706T	ZEB1_ENST00000361642.5_Silent_p.T723T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Silent_p.T722T|ZEB1_ENST00000542815.3_Silent_p.T655T|ZEB1_ENST00000560721.2_Silent_p.T702T	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	722					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTTGTACACAGCTGAGGGTG	0.438000													7	41					0	0	0.001984	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291434	5291434	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:5291434G>C	ENST00000357006.4	-	4	1111	c.773C>G	c.(772-774)aCa>aGa	p.T258R	ZBTB14_ENST00000400143.3_Missense_Mutation_p.T258R	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		ACTGGCGGCTGTTGTCCAGCC	0.493000													32	110					0	0	0.002836	0	0
ARSF	416	broad.mit.edu	37	X	3021856	3021856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:3021856C>T	ENST00000381127.1	+	9	1377	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.R386*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.R386*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	386						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGAATTGTCCGATGGCCTGG	0.458000													12	11					0	0	0.001368	0	0
SCGN	10590	broad.mit.edu	37	6	25701545	25701545	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:25701545G>T	ENST00000377961.2	+	11	981	c.813G>T	c.(811-813)ggG>ggT	p.G271G	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	271	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGTGTCTTGGGCTGAAAATCA	0.463000													24	34					7.87624e-14	1.65744e-13	0.002780	1	0
MFN1	55669	broad.mit.edu	37	3	179082171	179082171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:179082171C>G	ENST00000471841.1	+	6	749	c.623C>G	c.(622-624)tCt>tGt	p.S208C	MFN1_ENST00000280653.7_Missense_Mutation_p.S208C|MFN1_ENST00000263969.5_Missense_Mutation_p.S208C	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	208					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTCGCAAACTCTGAATCAACA	0.373000													3	36					0	0	0.004672	0	0
OLIG3	167826	broad.mit.edu	37	6	137815177	137815177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:137815177T>C	ENST00000367734.2	-	1	354	c.131A>G	c.(130-132)cAg>cGg	p.Q44R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CATATCGCCCTGCGTGGACGA	0.607000													35	63					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179571656	179571656	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:179571656G>T	ENST00000589042.1	-	101	29291	c.29067C>A	c.(29065-29067)acC>acA	p.T9689T	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T8445T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.T9372T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9372	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTTTCTTGGTTGCTGGGG	0.393000													5	13					5.9392e-07	1.16379e-06	0.001168	1	0
WHAMM	123720	broad.mit.edu	37	15	83478538	83478538	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:83478538C>T	ENST00000286760.4	+	1	159	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	20						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGGGCCTCTTCGCCGAGCCCG	0.731000													12	20					0	0	0.000978	0	0
COL4A4	1286	broad.mit.edu	37	2	227924130	227924130	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:227924130C>G	ENST00000396625.3	-	28	2581	c.2374G>C	c.(2374-2376)Ggg>Cgg	p.G792R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G792R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	792	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTCAGCCCCTGGACATCCC	0.537000													4	151					0	0	0.001168	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594129	136594129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:136594129G>A	ENST00000355849.5	+	6	1030	c.620G>A	c.(619-621)gGa>gAa	p.G207E	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	207					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGGGGAAGGGGAGGAGTTACA	0.483000													25	72					0	0	0.001786	0	0
NLRP2	55655	broad.mit.edu	37	19	55501499	55501499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55501499G>T	ENST00000543010.1	+	9	2619	c.2476G>T	c.(2476-2478)Gag>Tag	p.E826*	NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E826*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E803*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E802*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E804*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E802*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E823*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E804*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	826					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTTCTGGATGAGGGTGCTAA	0.517000													19	65					3.70931e-20	7.97915e-20	0.006122	1	0
OR7D2	162998	broad.mit.edu	37	19	9296822	9296822	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:9296822G>A	ENST00000344248.2	+	1	544	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCCTATGACCGGTTTGTGGCT	0.502000													11	140					0	0	0.000673	0	0
ATR	545	broad.mit.edu	37	3	142278147	142278147	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:142278147C>T	ENST00000350721.4	-	7	1799	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ATR_ENST00000383101.3_Missense_Mutation_p.E496K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	560					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGGTTGCCTCCAGGTCCAGT	0.348000								Other conserved DNA damage response genes					7	47					0	0	0.003080	0	0
RNF25	64320	broad.mit.edu	37	2	219528721	219528721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:219528721G>A	ENST00000295704.2	-	10	1779	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	447					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCCTCCGAGTACCAGGC	0.607000													9	95					0	0	0.000443	0	0
ZNF618	114991	broad.mit.edu	37	9	116810994	116810994	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:116810994A>G	ENST00000288466.7	+	14	1232	c.1133A>G	c.(1132-1134)gAg>gGg	p.E378G	ZNF618_ENST00000374126.5_Missense_Mutation_p.E471G|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AACATCGCAGAGCGGCTGTTG	0.557000													25	63					0	0	0.004656	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1																						TTATAGTGTGTATTTTAATTA	0.353000													3	22					0	0	0.004672	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	15					0	0	0.001368	0	0
BCAR1	9564	broad.mit.edu	37	16	75276926	75276926	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:75276926G>T	ENST00000418647.3	-	3	496	c.213C>A	c.(211-213)cgC>cgA	p.R71R	BCAR1_ENST00000393420.6_Silent_p.R25R|BCAR1_ENST00000393422.2_Silent_p.R43R|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000542031.2_Silent_p.R23R|BCAR1_ENST00000535626.2_Silent_p.R25R|BCAR1_ENST00000162330.5_Silent_p.R25R|BCAR1_ENST00000538440.2_Silent_p.R25R|BCAR1_ENST00000420641.3_Silent_p.R43R	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	25					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCACCCTTGCGGAAGGAGA	0.627000													7	44					2.0095e-06	3.90601e-06	0.001984	1	0
WFS1	7466	broad.mit.edu	37	4	6302536	6302536	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:6302536C>T	ENST00000226760.1	+	8	1184	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	WFS1_ENST00000503569.1_Silent_p.I338I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	338					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ACCTCACCATCGACTTCTTCG	0.562000													22	55					0	0	0.002780	0	0
ALMS1P	200420	broad.mit.edu	37	2	73899462	73899462	+	RNA	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:73899462G>A	ENST00000450720.1	+	0	334					NR_003683.2																						GAACGGTGCCGAAAAACACAC	0.463000													7	19					0	0	0.001984	0	0
DEPDC5	9681	broad.mit.edu	37	22	32198787	32198787	+	Silent	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:32198787A>T	ENST00000400246.1	+	15	1186	c.1044A>T	c.(1042-1044)ctA>ctT	p.L348L	DEPDC5_ENST00000536766.1_Silent_p.L320L|DEPDC5_ENST00000266091.3_Silent_p.L348L|DEPDC5_ENST00000400249.2_Silent_p.L348L|DEPDC5_ENST00000382111.2_Silent_p.L348L|DEPDC5_ENST00000382105.2_Silent_p.L348L|DEPDC5_ENST00000382112.3_Silent_p.L348L|DEPDC5_ENST00000400248.1_Silent_p.L348L|DEPDC5_ENST00000400242.3_Silent_p.L348L|DEPDC5_ENST00000535622.1_Silent_p.L348L			O75140	DEPD5_HUMAN	DEP domain containing 5	348					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGACCGCCTACTCATGATCC	0.502000													21	56					0	0	0.002299	0	0
KIAA1586	57691	broad.mit.edu	37	6	56917579	56917579	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:56917579C>T	ENST00000370733.4	+	4	489	c.282C>T	c.(280-282)agC>agT	p.S94S	KIAA1586_ENST00000545356.1_Silent_p.S67S|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	94							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAAGTGAGCAAAAATCACT	0.338000													10	42					0	0	0.000443	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243254	23243254	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:23243254A>G	ENST00000397532.3	-	9	1842	c.1317T>C	c.(1315-1317)gaT>gaC	p.D439D	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.D439D|SLC7A7_ENST00000397528.4_Silent_p.D439D|SLC7A7_ENST00000555702.1_Silent_p.D439D|SLC7A7_ENST00000285850.7_Silent_p.D439D|SLC7A7_ENST00000554517.1_Silent_p.D173D			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	439					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGTTGATAGTATCACTGTAAA	0.507000													34	60					0	0	0.005524	0	0
RAB19	401409	broad.mit.edu	37	7	140125753	140125753	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:140125753G>T	ENST00000275874.5	+	5	796	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	RAB19_ENST00000356407.3_Missense_Mutation_p.G153C|RAB19_ENST00000537763.1_Missense_Mutation_p.G153C			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	153					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TGAGAAGTACGGCCTCCTGGC	0.522000													42	87					1.62957e-23	3.56884e-23	0.001951	1	0
TIMM44	10469	broad.mit.edu	37	19	7997752	7997752	+	Missense_Mutation	SNP	G	G	A	rs41539862		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:7997752G>A	ENST00000270538.3	-	8	1103	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	279					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTGTCCGTAAGGGCCCGGGAT	0.632000													4	84					0	0	0.000602	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242731	60242731	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:60242731C>T	ENST00000269499.5	+	13	3835	c.3417C>T	c.(3415-3417)agC>agT	p.S1139S	ZCCHC2_ENST00000586834.1_Silent_p.S818S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1139					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGGTGTAAGCGGACACTATG	0.458000													9	25					0	0	0.000443	0	0
DPYD	1806	broad.mit.edu	37	1	97771778	97771778	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:97771778G>C	ENST00000370192.3	-	17	2234	c.2134C>G	c.(2134-2136)Cca>Gca	p.P712A	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	712					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTGACATTTGGGGTCAGCTTG	0.448000													34	146					0	0	0.002096	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286879	55286879	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55286879G>T	ENST00000336077.6	+	4	673	c.633G>T	c.(631-633)aaG>aaT	p.K211N	KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.K211N|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	211					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTGGTCAAAGTCAAGTGACC	0.547000													14	188					0.000308642	0.000570163	0.003163	1	0
SLC25A22	79751	broad.mit.edu	37	11	792580	792580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:792580T>C	ENST00000320230.5	-	7	1041	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	SLC25A22_ENST00000531214.1_Missense_Mutation_p.Y187C	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	187						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GAGTCCCTTGTAGAGACCGGC	0.731000													7	19					0	0	0.001984	0	0
FCAR	2204	broad.mit.edu	37	19	55399565	55399565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55399565C>T	ENST00000355524.3	+	4	563	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	FCAR_ENST00000353758.4_Missense_Mutation_p.L76F|FCAR_ENST00000359272.4_Missense_Mutation_p.L173F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Missense_Mutation_p.L185F|FCAR_ENST00000391725.3_Missense_Mutation_p.L185F|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391723.3_Missense_Mutation_p.L173F|FCAR_ENST00000391724.3_Missense_Mutation_p.L173F|FCAR_ENST00000391726.3_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	185	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCCTGTGGACCTCAATGTCTC	0.537000													8	17					0	0	0.003080	0	0
GMDS	2762	broad.mit.edu	37	6	1742785	1742785	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:1742785C>A	ENST00000380815.4	-	8	1076	c.807G>T	c.(805-807)gaG>gaT	p.E269D	GMDS_ENST00000530927.1_Missense_Mutation_p.E239D	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	269					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAACGAAGTCCTCCGGCTCAT	0.448000													21	36					3.62473e-10	7.34046e-10	0.001882	1	0
HIRA	7290	broad.mit.edu	37	22	19344526	19344526	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:19344526G>T	ENST00000263208.5	-	19	2539	c.2283C>A	c.(2281-2283)tcC>tcA	p.S761S	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Silent_p.S717S|HIRA_ENST00000541063.1_Silent_p.S717S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	761	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACCACAGGTGGAGAACACTG	0.592000													15	166					1.15088e-07	2.27357e-07	0.004007	1	0
RSPRY1	89970	broad.mit.edu	37	16	57238809	57238809	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:57238809C>A	ENST00000537866.1	+	2	1112	c.239C>A	c.(238-240)cCt>cAt	p.P80H	RSPRY1_ENST00000394420.4_Missense_Mutation_p.P80H			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	80						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCACGGGACCCTGTTCGGCCA	0.547000													7	67					0.000157383	0.000292975	0.003080	1	0
FBN3	84467	broad.mit.edu	37	19	8148207	8148207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:8148207G>T	ENST00000600128.1	-	57	7551	c.7137C>A	c.(7135-7137)tgC>tgA	p.C2379*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.C2379*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.C2379*			Q75N90	FBN3_HUMAN	fibrillin 3	2379	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGTTGATGCACTCCCCAT	0.597000													16	64					1.5739e-10	3.2007e-10	0.004007	1	0
NBEA	26960	broad.mit.edu	37	13	36229091	36229091	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:36229091A>T	ENST00000400445.3	+	53	8606	c.8072A>T	c.(8071-8073)tAt>tTt	p.Y2691F	NBEA_ENST00000379939.2_Missense_Mutation_p.Y2688F|NBEA_ENST00000310336.4_Missense_Mutation_p.Y2691F|NBEA_ENST00000537702.1_Missense_Mutation_p.Y484F|NBEA_ENST00000379922.3_Missense_Mutation_p.Y269F|NBEA_ENST00000540320.1_Missense_Mutation_p.Y2691F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2691						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATAATCGCTATATTCTTATC	0.368000													13	21					0	0	0.001855	0	0
SENP5	205564	broad.mit.edu	37	3	196612534	196612534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:196612534C>T	ENST00000323460.5	+	2	731	c.482C>T	c.(481-483)cCa>cTa	p.P161L	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.P161L	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	161					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGGACAGACCCACAACCTTCT	0.468000													5	61					0	0	0.000602	0	0
MYOD1	4654	broad.mit.edu	37	11	17741386	17741386	+	Silent	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:17741386T>G	ENST00000250003.3	+	1	272	c.57T>G	c.(55-57)tcT>tcG	p.S19S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	19					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCGACGGCTCTCTCTGCTCCT	0.652000													23	40					0	0	0.003330	0	0
ZP4	57829	broad.mit.edu	37	1	238050710	238050710	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:238050710G>C	ENST00000366570.4	-	5	863	c.705C>G	c.(703-705)ttC>ttG	p.F235L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	235	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGGAAACTGGAACAGAACAA	0.522000													12	170					0	0	0.002450	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393659	139393659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:139393659G>A	ENST00000277541.6	-	32	6062	c.5987C>T	c.(5986-5988)aCg>aTg	p.T1996M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1996					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.T1997M(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTGGCGTCGTGCCATCATG	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	51					0	0	0.001168	0	0
RLTPR	146206	broad.mit.edu	37	16	67683451	67683451	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67683451C>T	ENST00000334583.6	+	20	2176	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	RLTPR_ENST00000545661.1_Silent_p.I580I	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	616	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGCTGGATATCAGCGGCAACG	0.672000													10	46					0	0	0.000443	0	0
UIMC1	51720	broad.mit.edu	37	5	176395738	176395738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:176395738C>G	ENST00000377219.2	-	6	1184	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	UIMC1_ENST00000511320.1_Missense_Mutation_p.E340Q|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.E340Q	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	340	AIR.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTAGCCTGCTCTCCTTGGCCA	0.463000													43	49					0	0	0.001706	0	0
SETD7	80854	broad.mit.edu	37	4	140439120	140439120	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:140439120G>C	ENST00000274031.3	-	7	1475	c.839C>G	c.(838-840)cCc>cGc	p.P280R	SETD7_ENST00000506866.2_Missense_Mutation_p.P280R	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	280	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GTGGTTATAGGGCTCAGGCAC	0.493000													7	84					0	0	0.001984	0	0
SIM1	6492	broad.mit.edu	37	6	100838914	100838914	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:100838914C>T	ENST00000369208.3	-	12	2406	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SIM1_ENST00000262901.4_Missense_Mutation_p.A542T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	542	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATTCACTGGCCGACCCAGGG	0.438000													4	55					0	0	0.000248	0	0
TRRAP	8295	broad.mit.edu	37	7	98567840	98567840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:98567840C>T	ENST00000359863.4	+	51	7806	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2515C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2515C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2533					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGCCACGACCGTGCCGCCTT	0.632000													22	74					0	0	0.003330	0	0
KDM1B	221656	broad.mit.edu	37	6	18217997	18217997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:18217997C>T	ENST00000388870.2	+	21	2510	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	KDM1B_ENST00000397244.1_Missense_Mutation_p.R525W|KDM1B_ENST00000546309.2_Missense_Mutation_p.R47W|KDM1B_ENST00000297792.5_Missense_Mutation_p.R524W			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	756					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTGTCACTCGGTGGAGCAC	0.478000													32	39					0	0	0.001786	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617523	37617523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr21:37617523G>A	ENST00000399151.3	+	19	3330	c.3245G>A	c.(3244-3246)gGc>gAc	p.G1082D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1082					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGCTGCGAGGCGAGCTGAGC	0.632000													4	34					0	0	0.000248	0	0
EEF2K	29904	broad.mit.edu	37	16	22271782	22271782	+	Splice_Site	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:22271782G>C	ENST00000263026.5	+	11	1705		c.e11-1			NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCTGCCCAGATTGGCCAGT	0.547000													5	115					0	0	0.000602	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201942	140201942	+	Silent	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:140201942T>G	ENST00000529859.1	+	1	582	c.582T>G	c.(580-582)gtT>gtG	p.V194V	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.V194V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.V194V	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCTGGTTTTGAGGAAAT	0.353000													24	38					0	0	0.003330	0	0
S1PR3	1903	broad.mit.edu	37	9	91617076	91617076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:91617076C>T	ENST00000375846.3	+	1	5656	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	S1PR3_ENST00000358157.2_Missense_Mutation_p.R321W			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	321					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGTCAGGGGACGGGGGGCCCG	0.612000													19	29					0	0	0.001216	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:140553578G>A	ENST00000231137.3	+	1	1336	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D388Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468000													5	35					0	0	0.001168	0	0
SH2B1	25970	broad.mit.edu	37	16	28877954	28877954	+	Missense_Mutation	SNP	C	C	T	rs144107554		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:28877954C>T	ENST00000337120.5	+	1	3830	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SH2B1_ENST00000322610.8_Missense_Mutation_p.S180F|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.S180F|SH2B1_ENST00000359285.5_Missense_Mutation_p.S180F	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	180	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GACCCTCCCTCCTCCGCTGGG	0.652000													19	46					0	0	0.001216	0	0
TP53	7157	broad.mit.edu	37	17	7578420	7578420	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:7578420C>A	ENST00000420246.2	-	5	642	c.510G>T	c.(508-510)acG>acT	p.T170T	TP53_ENST00000359597.4_Silent_p.T170T|TP53_ENST00000445888.2_Silent_p.T170T|TP53_ENST00000455263.2_Silent_p.T170T|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Silent_p.T170T|TP53_ENST00000413465.2_Silent_p.T170T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	170	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		MT -> IS (in a sporadic cancer; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> K (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T170T(7)|p.E171fs*10(3)|p.V157_C176del20(1)|p.T170fs*2(1)|p.E171fs*9(1)|p.H168fs*69(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.T170_E171insXX(1)|p.H168fs*3(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCACAACCTCCGTCATGTGCT	0.657000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	26					6.49762e-13	1.34395e-12	0.006122	1	0
LAMA4	3910	broad.mit.edu	37	6	112510314	112510314	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:112510314A>G	ENST00000230538.7	-	7	1209	c.812T>C	c.(811-813)aTa>aCa	p.I271T	LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	271	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTTTTACTTATGGTTGGGCA	0.468000													4	21					0	0	0.000248	0	0
QRFPR	84109	broad.mit.edu	37	4	122250599	122250599	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:122250599T>G	ENST00000394427.2	-	6	1577	c.1166A>C	c.(1165-1167)gAa>gCa	p.E389A	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	389						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTGAATGCTTCTCCTTTGGT	0.428000													13	143					0	0	0.004990	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805943	27805943	+	Missense_Mutation	SNP	G	G	C	rs144042626		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:27805943G>C	ENST00000330180.2	-	1	174	c.175C>G	c.(175-177)Cta>Gta	p.L59V		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	59					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGCGGTTAGGTACTCCAAC	0.667000													12	91					0	0	0.000978	0	0
TREML3P	340206	broad.mit.edu	37	6	41184896	41184896	+	RNA	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:41184896C>T	ENST00000564680.1	-	0	314																											TGAGGGTCCACGTAGGAGACG	0.562000													5	71					0	0	0.000602	0	0
TPO	7173	broad.mit.edu	37	2	1497685	1497685	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:1497685A>G	ENST00000345913.4	+	11	1971	c.1880A>G	c.(1879-1881)aAg>aGg	p.K627R	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.K454R|TPO_ENST00000382201.3_Missense_Mutation_p.K570R|TPO_ENST00000349624.3_Missense_Mutation_p.K454R|TPO_ENST00000346956.3_Missense_Mutation_p.K627R|TPO_ENST00000337415.3_Missense_Mutation_p.K627R|TPO_ENST00000329066.4_Missense_Mutation_p.K627R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	627					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACTTGTACAAGCATCCTGAC	0.612000													12	33					0	0	0.001368	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128782	99128782	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:99128782C>G	ENST00000394170.2	+	7	1681	c.1430C>G	c.(1429-1431)tCa>tGa	p.S477*	ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.S477*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.S477*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	477					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGAAAATTTCAGAATATTCA	0.323000													11	145					0	0	0.000673	0	0
NDNL2	56160	broad.mit.edu	37	15	29561491	29561491	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:29561491T>C	ENST00000332303.4	-	1	542	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	140	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CACCAGCTTATACCCGAAGAC	0.577000													3	89					0	0	0.004672	0	0
TPPP2	122664	broad.mit.edu	37	14	21499312	21499312	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:21499312C>A	ENST00000321760.6	+	3	463	c.315C>A	c.(313-315)acC>acA	p.T105T	TPPP2_ENST00000460647.2_Silent_p.T105T|TPPP2_ENST00000530140.2_Silent_p.T105T|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	105						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACCCAGCCACCACTGGCGCTA	0.537000													11	47					3.07112e-06	5.94568e-06	0.000978	1	0
LAMP3	27074	broad.mit.edu	37	3	182871533	182871533	+	Silent	SNP	G	G	A	rs140803277	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:182871533G>A	ENST00000265598.3	-	2	951	c.696C>T	c.(694-696)aaC>aaT	p.N232N	LAMP3_ENST00000466939.1_Silent_p.N208N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	232					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502000													12	121					0	0	0.001368	0	0
APC	324	broad.mit.edu	37	5	112176386	112176386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:112176386G>A	ENST00000457016.1	+	16	5475	c.5095G>A	c.(5095-5097)Gag>Aag	p.E1699K	APC_ENST00000508376.2_Missense_Mutation_p.E1699K|APC_ENST00000257430.4_Missense_Mutation_p.E1699K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1699	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTACAGATGAGGCTCAAGG	0.423000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	22					0	0	0.001168	0	0
MAPK7	5598	broad.mit.edu	37	17	19286398	19286398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:19286398G>A	ENST00000308406.5	+	7	2691	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	MAPK7_ENST00000395602.4_Missense_Mutation_p.D769N|MAPK7_ENST00000299612.7_Missense_Mutation_p.D630N|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395604.3_Missense_Mutation_p.D769N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	769	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCCAGGCAGATTCAGCCTC	0.597000													28	78					0	0	0.001061	0	0
FARP1	10160	broad.mit.edu	37	13	99043103	99043103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:99043103G>C	ENST00000376586.2	+	11	1393	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	FARP1_ENST00000595437.1_Missense_Mutation_p.E353Q|FARP1_ENST00000319562.6_Missense_Mutation_p.E353Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	353					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTATGTTAAAGAAGGAGGACA	0.453000													20	71					0	0	0.001216	0	0
STAR	6770	broad.mit.edu	37	8	38005823	38005823	+	Silent	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38005823G>C	ENST00000276449.4	-	3	647	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	67	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGTCACTGTAGAGAGTCTCTT	0.582000													3	24					0	0	0.004672	0	0
CD163	9332	broad.mit.edu	37	12	7636160	7636160	+	Missense_Mutation	SNP	T	T	G	rs141756075	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:7636160T>G	ENST00000359156.4	-	12	3093	c.2891A>C	c.(2890-2892)cAg>cCg	p.Q964P	CD163_ENST00000541972.1_Missense_Mutation_p.Q952P|CD163_ENST00000396620.3_Missense_Mutation_p.Q997P|CD163_ENST00000432237.2_Missense_Mutation_p.Q964P|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	964	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACACACCACCTGAGCATCGTC	0.522000													10	69					0	0	0.000673	0	0
CELF4	56853	broad.mit.edu	37	18	34855109	34855109	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:34855109G>T	ENST00000420428.2	-	4	941	c.546C>A	c.(544-546)acC>acA	p.T182T	RP11-797E24.3_ENST00000588766.1_RNA|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000361795.5_Silent_p.T181T|CELF4_ENST00000591282.1_Silent_p.T182T|CELF4_ENST00000334919.5_Silent_p.T172T|CELF4_ENST00000588597.1_Silent_p.T171T|CELF4_ENST00000412753.1_Silent_p.T182T|CELF4_ENST00000591287.1_Silent_p.T181T|CELF4_ENST00000603232.1_Silent_p.T182T|CELF4_ENST00000601019.1_Silent_p.T181T	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	182	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGCGCAGGATGGTGCACTCCT	0.662000													8	81					1.12685e-05	2.14723e-05	0.004482	1	0
MIR517B	574483	broad.mit.edu	37	19	54224338	54224338	+	RNA	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:54224338C>G	ENST00000385102.1	+	0	9					NR_030205.1																						CTGTGACCCTCTAGATGGAAG	0.423000													12	121					0	0	0.001368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339068	25339068	+	RNA	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:25339068C>T	ENST00000546682.1	+	0	1057				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CCCCTGGGCACGTGCAGCATA	0.512000													9	12					0	0	0.004482	0	0
ENPP4	22875	broad.mit.edu	37	6	46107712	46107712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:46107712G>A	ENST00000321037.4	+	2	622	c.392G>A	c.(391-393)aGt>aAt	p.S131N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	131						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AACAGATCAAGTGCTGCTGCT	0.413000													37	54					0	0	0.001706	0	0
C6orf62	81688	broad.mit.edu	37	6	24706378	24706378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:24706378T>C	ENST00000378119.4	-	5	2844	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	C6orf62_ENST00000378102.3_Missense_Mutation_p.Y197C|C6orf62_ENST00000540769.1_Missense_Mutation_p.Y168C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	226						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CTCTGGCATATAAGGACGGAG	0.443000													25	21					0	0	0.003954	0	0
ASTN2	23245	broad.mit.edu	37	9	119495733	119495733	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:119495733C>T	ENST00000313400.4	-	14	2566	c.2466G>A	c.(2464-2466)gaG>gaA	p.E822E	ASTN2_ENST00000373996.3_Silent_p.E818E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.E771E			O75129	ASTN2_HUMAN	astrotactin 2	822						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCACTGCTCCTCCACCGGCA	0.602000													33	84					0	0	0.002096	0	0
CHRM3	1131	broad.mit.edu	37	1	240071149	240071149	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:240071149G>A	ENST00000255380.4	+	5	1177	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	133					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATCATGAATCGATGGGCCTTA	0.473000													25	63					0	0	0.001061	0	0
LGSN	51557	broad.mit.edu	37	6	63990178	63990178	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:63990178G>A	ENST00000370657.4	-	4	1311	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	426					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CATCTAAGCCGGCAGCAACAG	0.453000													14	53					0	0	0.001855	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035433	242035433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:242035433C>T	ENST00000391980.2	-	4	1184	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	MTERFD2_ENST00000406593.1_Missense_Mutation_p.D188N|MTERFD2_ENST00000488567.1_5'UTR|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	376										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcgtcgtcgtcctcatcctca	0.483000													5	68					0	0	0.001168	0	0
EAF2	55840	broad.mit.edu	37	3	121563320	121563320	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:121563320A>G	ENST00000273668.2	+	2	198	c.127A>G	c.(127-129)Att>Gtt	p.I43V	EAF2_ENST00000451944.2_Missense_Mutation_p.I43V	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	43	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ACCTGCTTCTATTGACACTTC	0.318000													12	85					0	0	0.001368	0	0
ASPG	374569	broad.mit.edu	37	14	104570801	104570801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:104570801C>T	ENST00000551177.1	+	8	1006	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASPG_ENST00000546892.2_Missense_Mutation_p.T305I|ASPG_ENST00000455920.2_Missense_Mutation_p.T305I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	305	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGCTGTGACCACAGACTAT	0.672000													8	43					0	0	0.003080	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330023	88330023	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:88330023C>A	ENST00000325089.6	+	2	2599	c.2380C>A	c.(2380-2382)Cag>Aag	p.Q794K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q553K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	794						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCACCTgcagcagcagcagca	0.657000													13	18					9.31168e-06	1.78136e-05	0.001855	1	0
AMY2A	279	broad.mit.edu	37	1	104160645	104160645	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:104160645G>T	ENST00000414303.2	+	2	302	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	80					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ATACCAACCAGTTAGCTATAA	0.353000													54	76					2.27459e-33	5.0041e-33	0.003610	1	0
SPPL3	121665	broad.mit.edu	37	12	121221519	121221519	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:121221519G>C	ENST00000353487.2	-	5	850	c.347C>G	c.(346-348)cCg>cGg	p.P116R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	117						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGCACATCGGGAGGAGAAG	0.323000													15	13					0	0	0.006122	0	0
SPHK2	56848	broad.mit.edu	37	19	49129107	49129107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:49129107G>A	ENST00000443164.1	+	1	890	c.185G>A	c.(184-186)gGg>gAg	p.G62E	SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000340932.3_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	445	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCTGCCATGGGGTCCTGAAT	0.647000													3	15					0	0	0.004672	0	0
HTR1E	3354	broad.mit.edu	37	6	87725635	87725635	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:87725635T>A	ENST00000305344.4	+	2	1286	c.583T>A	c.(583-585)Ttg>Atg	p.L195M	HTR1E_ENST00000369584.1_Missense_Mutation_p.L195M	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	195					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.P194fs*20(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTATATCCCCTTGACTTTGAT	0.507000													9	34					0	0	0.004482	0	0
OR2B11	127623	broad.mit.edu	37	1	247614634	247614634	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:247614634G>A	ENST00000318749.6	-	1	674	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGAAGGATGAGAGCCAGGG	0.582000													7	50					0	0	0.003080	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947962	21947962	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:21947962T>G	ENST00000406877.3	-	4	746	c.467A>C	c.(466-468)aAa>aCa	p.K156T	CDCA7L_ENST00000373934.4_Missense_Mutation_p.K110T|CDCA7L_ENST00000356195.5_Missense_Mutation_p.K122T|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	156					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTATCTGGTTTGTTGGCCAG	0.423000													4	59					0	0	0.001168	0	0
MCF2L	23263	broad.mit.edu	37	13	113678963	113678963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:113678963C>T	ENST00000397030.1	+	3	305	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	MCF2L_ENST00000423482.2_Missense_Mutation_p.R55W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61W|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R55W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCAGGTGGGCGGGGGCAGGA	0.612000													7	77					0	0	0.003080	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253869	81253869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:81253869C>T	ENST00000599697.1	-	1	106	c.107G>A	c.(106-108)aGa>aAa	p.R36K	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	36	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAGCATCTCTGAAGGCCAC	0.562000													15	70					0	0	0.003163	0	0
SLC47A2	146802	broad.mit.edu	37	17	19610064	19610064	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:19610064G>A	ENST00000350657.5	-	9	912	c.738C>T	c.(736-738)agC>agT	p.S246S	SLC47A2_ENST00000325411.5_Silent_p.S282S|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	282						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCAGGCACTGGCTGGACCAAC	0.612000													19	53					0	0	0.001216	0	0
HECW1	23072	broad.mit.edu	37	7	43590145	43590145	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:43590145C>T	ENST00000395891.1	+	27	4955	c.4350C>T	c.(4348-4350)cgC>cgT	p.R1450R	HECW1_ENST00000453890.1_Silent_p.R1416R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1450	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGTGGAGCGCGGCGTGGTAC	0.627000													8	6					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:7578419C>A	ENST00000420246.2	-	5	643	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Nonsense_Mutation_p.E171*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACAACCTCCGTCATGTGC	0.662000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	26					2.48551e-13	5.16302e-13	0.004990	1	0
MYO3A	53904	broad.mit.edu	37	10	26243891	26243891	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:26243891T>A	ENST00000265944.5	+	4	423	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	MYO3A_ENST00000376302.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000376301.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000543632.1_Missense_Mutation_p.F86Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	86	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGGATATACTTTAAGAAGGAT	0.373000													6	82					0	0	0.001168	0	0
TIGD4	201798	broad.mit.edu	37	4	153692050	153692050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:153692050C>T	ENST00000304337.2	-	2	927	c.107G>A	c.(106-108)gGc>gAc	p.G36D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	36	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TTTTTTCTTGCCACTTTCCAC	0.363000													5	62					0	0	0.000602	0	0
EPB41L3	23136	broad.mit.edu	37	18	5394794	5394794	+	Splice_Site	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:5394794T>A	ENST00000341928.2	-	22	3494		c.e22-2		EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCAGCGCCTATCCCCGGGA	0.473000													62	64					0	0	0.003610	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291439	5291439	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:5291439C>G	ENST00000357006.4	-	4	1106	c.768G>C	c.(766-768)tgG>tgC	p.W256C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.W256C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CGGCTGTTGTCCAGCCTGGTG	0.493000													33	115					0	0	0.002836	0	0
ACHE	43	broad.mit.edu	37	7	100491265	100491265	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:100491265C>G	ENST00000302913.4	-	2	727	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ACHE_ENST00000241069.5_Missense_Mutation_p.E197Q|ACHE_ENST00000428317.1_Missense_Mutation_p.E197Q|ACHE_ENST00000419336.2_Missense_Mutation_p.E197Q|ACHE_ENST00000411582.1_Missense_Mutation_p.E197Q|ACHE_ENST00000412389.1_Missense_Mutation_p.E197Q	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	197					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCCGGGGCCTCTCGGCTCCCC	0.652000													20	86					0	0	0.001523	0	0
TROAP	10024	broad.mit.edu	37	12	49722756	49722756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:49722756A>G	ENST00000551245.1	+	9	1049	c.938A>G	c.(937-939)cAg>cGg	p.Q313R	TROAP_ENST00000547923.1_Missense_Mutation_p.Q21R|TROAP_ENST00000257909.3_Missense_Mutation_p.Q313R			Q12815	TROAP_HUMAN	trophinin associated protein	313					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCTGTGGCCCAGCCCTTGCCT	0.592000													29	57					0	0	0.001271	0	0
CDH11	1009	broad.mit.edu	37	16	64984742	64984742	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:64984742C>A	ENST00000394156.3	-	12	2275	c.1822G>T	c.(1822-1824)Gcc>Tcc	p.A608S	CDH11_ENST00000566827.1_Missense_Mutation_p.A482S|CDH11_ENST00000268603.4_Missense_Mutation_p.A608S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	608	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGAATGTAGGCCTCTGCGTTG	0.637000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	26					4.7546e-09	9.58845e-09	0.004007	1	0
HERC2	8924	broad.mit.edu	37	15	28386588	28386588	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:28386588G>T	ENST00000261609.7	-	78	12113	c.12005C>A	c.(12004-12006)gCt>gAt	p.A4002D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4002					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCCCATCAGCCGTCACAGC	0.517000													30	21					8.88839e-20	1.89515e-19	0.002096	1	0
TXNRD1	7296	broad.mit.edu	37	12	104720144	104720144	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:104720144G>C	ENST00000526691.1	+	10	1490	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	TXNRD1_ENST00000525566.1_Missense_Mutation_p.R443T|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R293T|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R293T|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R408T|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R337T|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R345T|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R392T|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R293T|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R443T|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R362T|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R343T|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R255T|TXNRD1_ENST00000529546.1_Missense_Mutation_p.R255T|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R337T	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	443					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GCAATAGGAAGAGATGCTTGC	0.289000													2	1					0	0	0.004672	0	0
HBA2	3040	broad.mit.edu	37	16	223537	223537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:223537C>T	ENST00000251595.6	+	3	433	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	HBA2_ENST00000397806.1_Missense_Mutation_p.H91Y	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	123			H -> Q (in Westmead).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	CCCTGCGGTGCACGCCTCCCT	0.662000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	23					0	0	0.001984	0	0
AREL1	9870	broad.mit.edu	37	14	75140809	75140809	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:75140809G>T	ENST00000356357.4	-	9	1601	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		CCTTCACTGAGAATTGCTGGA	0.403000													25	25					9.39395e-14	1.96826e-13	0.001061	1	0
ACTN2	88	broad.mit.edu	37	1	236911018	236911018	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:236911018T>C	ENST00000366578.4	+	13	1624	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	ACTN2_ENST00000542672.1_Silent_p.I486I|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	486					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCAGAAAATTTGTGACCAGT	0.408000													3	29					0	0	0.000248	0	0
KTI12	112970	broad.mit.edu	37	1	52498549	52498549	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:52498549C>A	ENST00000371614.1	-	1	939	c.885G>T	c.(883-885)ggG>ggT	p.G295G	TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	295							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGAGCAAGTCCCCGGGGACAG	0.597000													58	45					2.12129e-23	4.62478e-23	0.003610	1	0
SLC28A1	9154	broad.mit.edu	37	15	85487997	85487997	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:85487997C>T	ENST00000394573.1	+	18	1975	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	SLC28A1_ENST00000538177.1_Silent_p.Y425Y|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.Y591Y|SLC28A1_ENST00000537624.1_Silent_p.Y591Y	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	591					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGATCCTCTACATGCCCAGGG	0.597000													49	42					0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31039643	31039643	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:31039643C>A	ENST00000355537.3	+	4	3264	c.3117C>A	c.(3115-3117)gtC>gtA	p.V1039V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGTCACAGTCAACTGCAAAG	0.542000													17	45					3.52763e-06	6.41388e-06	0.004990	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292726	102292726	+	RNA	SNP	G	G	A	rs150565409	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:102292726G>A	ENST00000561463.1	+	0	772																											TGGGAACAAGGAGACACTCCT	0.582000													6	40					0	0	0.000978	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090461	22090461	+	RNA	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:22090461C>A	ENST00000542354.1	+	0	133																											AAGCCTTGAGCAGCCCTCTGA	0.483000													12	60					5.50884e-06	9.97663e-06	0.001368	1	0
COL5A1	1289	broad.mit.edu	37	9	137593123	137593123	+	Missense_Mutation	SNP	G	G	A	rs142890619	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:137593123G>A	ENST00000371817.3	+	4	1012	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	200	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCATGATCGACATCAATGG	0.542000													4	22					0	0	0.000248	0	0
MPDZ	8777	broad.mit.edu	37	9	13216781	13216781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:13216781T>C	ENST00000319217.7	-	10	1529	c.1282A>G	c.(1282-1284)Att>Gtt	p.I428V	MPDZ_ENST00000447879.1_Missense_Mutation_p.I428V|MPDZ_ENST00000381022.2_Missense_Mutation_p.I428V|MPDZ_ENST00000546205.1_Missense_Mutation_p.I428V|MPDZ_ENST00000381015.4_Missense_Mutation_p.I428V|MPDZ_ENST00000541718.1_Missense_Mutation_p.I428V|MPDZ_ENST00000536827.1_Missense_Mutation_p.I428V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	428	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTGCTATAATTTGGTCTCCA	0.323000													10	12					0	0	0.000673	0	0
DMPK	1760	broad.mit.edu	37	19	46280797	46280797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:46280797C>T	ENST00000600757.1	-	7	1651	c.964G>A	c.(964-966)Gac>Aac	p.D322N	DMPK_ENST00000458663.2_Missense_Mutation_p.D312N|DMPK_ENST00000447742.2_Missense_Mutation_p.D312N|DMPK_ENST00000354227.5_Missense_Mutation_p.D312N|DMPK_ENST00000291270.4_Missense_Mutation_p.D312N|DMPK_ENST00000343373.4_Missense_Mutation_p.D322N			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	322	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGAATGAAGTCTCGAGCCTCC	0.652000													11	59					0	0	0.000673	0	0
GGT5	2687	broad.mit.edu	37	22	24640644	24640644	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr22:24640644C>G	ENST00000327365.4	-	1	466	c.50G>C	c.(49-51)gGg>gCg	p.G17A	GGT5_ENST00000418439.2_Missense_Mutation_p.G17A|GGT5_ENST00000398292.3_Missense_Mutation_p.G17A|GGT5_ENST00000263112.7_Missense_Mutation_p.G17A	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	17					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAGCGCCAGCCCCAGACCCAG	0.706000													3	34					0	0	0.004672	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243544	19243544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:19243544C>T	ENST00000450333.2	-	4	245	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TMEM161A_ENST00000587583.2_Missense_Mutation_p.E70K|TMEM161A_ENST00000592369.1_5'UTR|TMEM161A_ENST00000162044.9_Missense_Mutation_p.E70K	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	70					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GGCTTCTCCTCACTAAGGCCA	0.627000													4	27					0	0	0.001168	0	0
LHB	3972	broad.mit.edu	37	19	49519449	49519449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:49519449G>A	ENST00000221421.2	-	3	301	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	101					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	CACAGGGAAGGAGACCACGGG	0.672000													5	104					0	0	0.000602	0	0
CEP97	79598	broad.mit.edu	37	3	101476483	101476483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:101476483G>A	ENST00000341893.3	+	9	1785	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Missense_Mutation_p.V345I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	345	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TCTAGAACCCGTCATTCAAGT	0.323000													10	45					0	0	0.000443	0	0
OR2W3	343171	broad.mit.edu	37	1	248059699	248059699	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:248059699G>A	ENST00000537741.1	+	3	1068	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	OR2W3_ENST00000360358.3_Missense_Mutation_p.G271S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGACCAGGGCATGTTCCT	0.532000													24	80					0	0	0.001061	0	0
ZNF208	7757	broad.mit.edu	37	19	22156838	22156838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:22156838G>A	ENST00000397126.4	-	4	1146	c.998C>T	c.(997-999)gCa>gTa	p.A333V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCATGAATTGCCTTATGTGT	0.393000													42	59					0	0	0.001951	0	0
RYR2	6262	broad.mit.edu	37	1	237813233	237813233	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:237813233C>T	ENST00000366574.2	+	50	7886	c.7569C>T	c.(7567-7569)gcC>gcT	p.A2523A	RYR2_ENST00000360064.6_Silent_p.A2521A|RYR2_ENST00000542537.1_Silent_p.A2507A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2523	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCACAGCCGTCTTGCCAT	0.463000													41	118					0	0	0.002222	0	0
CENPT	80152	broad.mit.edu	37	16	67862656	67862656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:67862656C>G	ENST00000562787.1	-	14	1919	c.1371G>C	c.(1369-1371)aaG>aaC	p.K457N	CENPT_ENST00000564817.1_Missense_Mutation_p.K402N|CENPT_ENST00000219172.3_Missense_Mutation_p.K457N|CENPT_ENST00000440851.2_Missense_Mutation_p.K457N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	457					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCAGTCCAGCCTTGTGGGGAT	0.587000													12	171					0	0	0.001368	0	0
CPT1C	126129	broad.mit.edu	37	19	50209265	50209265	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:50209265C>A	ENST00000392518.4	+	11	1436	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	CPT1C_ENST00000405931.2_Missense_Mutation_p.P344Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.P355Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.P355Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.P355Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	355					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGCTTTCCCCGAGAGCCCTG	0.612000													4	69					0.00024832	0.000434324	0.000248	1	0
C11orf16	56673	broad.mit.edu	37	11	8948556	8948556	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:8948556C>G	ENST00000326053.5	-	4	596	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E164Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	164										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGGCCTGGCTCCCAGAGTGCC	0.547000													9	40					0	0	0.000978	0	0
PPFIA2	8499	broad.mit.edu	37	12	81661805	81661805	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr12:81661805T>C	ENST00000550584.2	-	28	3667	c.3372A>G	c.(3370-3372)gaA>gaG	p.E1124E	PPFIA2_ENST00000548586.1_Silent_p.E1118E|PPFIA2_ENST00000549396.1_Silent_p.E1124E|PPFIA2_ENST00000443686.3_Silent_p.E1019E|PPFIA2_ENST00000333447.7_Silent_p.E1112E|PPFIA2_ENST00000549325.1_Silent_p.E1109E|PPFIA2_ENST00000552948.1_Silent_p.E1103E|PPFIA2_ENST00000541570.2_Silent_p.E660E|PPFIA2_ENST00000550359.2_Silent_p.E971E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.E310E|PPFIA2_ENST00000407050.4_Silent_p.E1023E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1023										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATTTGCATATTCTCGAAGTC	0.393000													4	8					0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113585856	113585856	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:113585856G>A	ENST00000297405.5	-	24	4160	c.3916C>T	c.(3916-3918)Cta>Tta	p.L1306L	CSMD3_ENST00000455883.2_Silent_p.L1202L|CSMD3_ENST00000343508.3_Silent_p.L1266L|CSMD3_ENST00000352409.3_Silent_p.L1306L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1306	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCACCTAGTAGATGAGTCGTT	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	43					0	0	0.002780	0	0
SNRNP200	23020	broad.mit.edu	37	2	96953231	96953231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:96953231C>T	ENST00000323853.5	-	26	3507	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1144	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCTTCTTCTCAATCTTCTTC	0.517000													31	55					0	0	0.001786	0	0
SRPR	6734	broad.mit.edu	37	11	126136385	126136385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:126136385C>T	ENST00000332118.6	-	6	980	c.826G>A	c.(826-828)Gag>Aag	p.E276K	SRPR_ENST00000532259.1_Missense_Mutation_p.E248K	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	276					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTGATGTCCTCAGACAAGGCA	0.488000													15	71					0	0	0.002450	0	0
CES1	1066	broad.mit.edu	37	16	55862770	55862770	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:55862770C>A	ENST00000422046.2	-	2	447	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	CES1_ENST00000361503.4_Missense_Mutation_p.A56S|CES1_ENST00000360526.3_Missense_Mutation_p.A57S			P23141	EST1_HUMAN	carboxylesterase 1	56				A -> G (in Ref. 2; AAA16036/AAA35711).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGCGGCTTGGCAAAAGGGATT	0.557000													11	64					3.86212e-05	6.85936e-05	0.000673	1	0
ZDHHC19	131540	broad.mit.edu	37	3	195925231	195925231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:195925231G>A	ENST00000296326.3	-	7	944	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	289						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGGGGTTGAGAGCAGAGGGG	0.632000													9	50					0	0	0.000673	0	0
EPHX1	2052	broad.mit.edu	37	1	226033041	226033041	+	Missense_Mutation	SNP	G	G	A	rs2234701		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:226033041G>A	ENST00000366837.4	+	9	1557	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.R454Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	454			R -> Q (in allele EPHX1*5; dbSNP:rs2234701).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGCTGGAGCGGCAATGACCC	0.607000													11	23					0	0	0.000978	0	0
CDH10	1008	broad.mit.edu	37	5	24593411	24593411	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:24593411T>G	ENST00000264463.4	-	2	696	c.189A>C	c.(187-189)ttA>ttC	p.L63F	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	63	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTCTTCAAGTAAGAAAAATT	0.363000										HNSCC(23;0.051)			16	94					0	0	0.000958	0	0
NLRP6	171389	broad.mit.edu	37	11	281335	281335	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:281335C>A	ENST00000534750.1	+	4	1806	c.1601C>A	c.(1600-1602)gCc>gAc	p.A534D	NLRP6_ENST00000312165.5_Missense_Mutation_p.A534D	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	534						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGTGGGGACGCCCAGCCGCAC	0.687000													12	16					1.5842e-08	2.97442e-08	0.001855	1	0
SLC18A1	6570	broad.mit.edu	37	8	20008242	20008242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:20008242C>A	ENST00000440926.1	-	12	1499	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	SLC18A1_ENST00000276373.5_Missense_Mutation_p.L343F|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L311F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L343F|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L343F|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L311F	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	343					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CACTGGCAGGCAAGAAAGCTA	0.498000													20	70					1.56452e-12	3.02387e-12	0.000958	1	0
SBF2	81846	broad.mit.edu	37	11	10064472	10064472	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:10064472A>G	ENST00000256190.8	-	3	335	c.198T>C	c.(196-198)ttT>ttC	p.F66F	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	66	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGACAACCACAAAGAACGTTG	0.403000													23	29					0	0	0.002780	0	0
CNST	163882	broad.mit.edu	37	1	246810610	246810610	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:246810610C>T	ENST00000366513.4	+	9	1376	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	CNST_ENST00000366512.3_Silent_p.A369A|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	369					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GCGCTGAAGCCACGTTAGCGC	0.587000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	97					0	0	0.001951	0	0
TRGV3	6976	broad.mit.edu	37	7	38398165	38398165	+	RNA	SNP	T	T	C	rs2392554		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:38398165T>C	ENST00000390346.2	-	0	484																											AATTAGATTTTGCAGTCTCAA	0.468000													43	105					0	0	0.002222	0	0
SEMA4A	64218	broad.mit.edu	37	1	156142765	156142765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:156142765G>A	ENST00000368285.3	+	11	1550	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.G296E|SEMA4A_ENST00000355014.2_Missense_Mutation_p.G428E|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G296E|SEMA4A_ENST00000368282.1_Missense_Mutation_p.G428E	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	428	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGCCTTGATGGGCACAGCCAT	0.577000													11	41					0	0	0.000978	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59894929	59894929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:59894929G>T	ENST00000265036.5	-	10	1468	c.1401C>A	c.(1399-1401)aaC>aaA	p.N467K	DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTTTCTCTTTGTTGGAGAGTT	0.343000													8	13					0.000157383	0.000276322	0.003080	1	0
YTHDF3	253943	broad.mit.edu	37	8	64099527	64099527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:64099527C>T	ENST00000539294.1	+	4	1271	c.955C>T	c.(955-957)Caa>Taa	p.Q319*	YTHDF3_ENST00000542911.2_Nonsense_Mutation_p.Q130*|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	320												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CCAACTGCCTCAACAGCAGCC	0.547000													8	24					0	0	0.004482	0	0
TRMT12	55039	broad.mit.edu	37	8	125463521	125463521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:125463521G>T	ENST00000328599.3	+	1	474	c.353G>T	c.(352-354)cGg>cTg	p.R118L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	118					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGGAGGGTCGGGGAGTCAAG	0.557000													5	94					0.00116845	0.00201305	0.001168	1	0
CRB2	286204	broad.mit.edu	37	9	126132410	126132410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:126132410G>A	ENST00000373631.3	+	7	1079	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	CRB2_ENST00000373629.2_Missense_Mutation_p.D28N|CRB2_ENST00000359999.3_Missense_Mutation_p.D360N	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	360	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGAAGATGTGGATGAATGCCT	0.572000													23	75					0	0	0.002299	0	0
LILRA5	353514	broad.mit.edu	37	19	54823182	54823182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:54823182G>A	ENST00000301219.3	-	4	480	c.361C>T	c.(361-363)Cct>Tct	p.P121S	LILRA5_ENST00000432233.3_Missense_Mutation_p.P121S|LILRA5_ENST00000446712.3_Missense_Mutation_p.P109S|LILRA5_ENST00000346508.3_Missense_Mutation_p.P109S|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	121	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTGCAGGGCTGTAGTAG	0.612000													48	141					0	0	0.003610	0	0
MYO1C	4641	broad.mit.edu	37	17	1375450	1375450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:1375450G>A	ENST00000359786.5	-	18	2194	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C	MYO1C_ENST00000438665.2_Missense_Mutation_p.R605C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R600C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R589C|MYO1C_ENST00000575158.1_Missense_Mutation_p.R589C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	624	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTGATGCAGCGGACGTAGGCG	0.657000													5	112					0	0	0.000602	0	0
RPS27L	51065	broad.mit.edu	37	15	63447855	63447855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:63447855C>T	ENST00000330964.5	-	3	587	c.191G>A	c.(190-192)tGc>tAc	p.C64Y	RPS27L_ENST00000559763.1_5'UTR|RPS27L_ENST00000462430.1_Missense_Mutation_p.C80Y|RPS27L_ENST00000411926.1_Missense_Mutation_p.C32Y|RPS27L_ENST00000439025.1_Missense_Mutation_p.C64Y|RPS27L_ENST00000455271.1_Missense_Mutation_p.C32Y	NM_015920.3	NP_057004.1	Q71UM5	RS27L_HUMAN	ribosomal protein S27-like	64					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity			large_intestine(1)	1						TGTAGGCTGGCACAACACTGT	0.413000													5	66					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	215847971	215847971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:215847971C>T	ENST00000366943.2	-	63	13668	c.13282G>A	c.(13282-13284)Ggt>Agt	p.G4428S	USH2A_ENST00000307340.3_Missense_Mutation_p.G4428S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4428	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTGCAACCTCCATTCGTG	0.512000										HNSCC(13;0.011)			4	53					0	0	0.000248	0	0
AKAP9	10142	broad.mit.edu	37	7	91691800	91691800	+	Splice_Site	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:91691800C>T	ENST00000359028.2	+	25	6238	c.6013_splice	c.e25+1	p.Q2005_splice	AKAP9_ENST00000358100.2_Splice_Site_p.Q2005_splice|AKAP9_ENST00000356239.3_Splice_Site_p.Q1993_splice|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2005	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTTGAACAACGTAAGTATTT	0.393000			T	BRAF	papillary thyroid								5	56					0	0	0.000602	0	0
DKK1	22943	broad.mit.edu	37	10	54074846	54074846	+	Splice_Site	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:54074846G>T	ENST00000373970.3	+	2	545		c.e2+1		DKK1_ENST00000467359.1_Splice_Site	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1						negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGCAAAAATGGTGAGTCCTGA	0.587000													6	37					3.59834e-05	6.41564e-05	0.001168	1	0
NLRP9	338321	broad.mit.edu	37	19	56220313	56220313	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:56220313C>G	ENST00000332836.2	-	9	2968	c.2941G>C	c.(2941-2943)Gac>Cac	p.D981H	CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	981						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TATTCCTCGTCAATCCAAGGT	0.488000													9	72					0	0	0.004482	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198650	233198650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:233198650G>A	ENST00000325385.7	+	17	2387	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R704H	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	704							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCGCCCATCCGCCGCTTTGCC	0.667000													10	94					0	0	0.000978	0	0
ENTPD4	9583	broad.mit.edu	37	8	23302048	23302048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:23302048C>G	ENST00000358689.4	-	5	719	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ENTPD4_ENST00000356206.6_Missense_Mutation_p.E162Q|ENTPD4_ENST00000417069.2_Missense_Mutation_p.E162Q	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	162					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGCACATGCTCTGCAGCAAAG	0.453000													4	68					0	0	0.000248	0	0
PCLO	27445	broad.mit.edu	37	7	82784624	82784624	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:82784624C>A	ENST00000423517.2	-	2	1670	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	PCLO_ENST00000333891.8_Missense_Mutation_p.G445W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	396	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTGGCCCAGGCTGCTGA	0.577000													46	87					1.8453e-21	3.73937e-21	0.002522	1	0
MYH11	4629	broad.mit.edu	37	16	15820749	15820749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:15820749C>T	ENST00000338282.6	-	28	3920	c.3814G>A	c.(3814-3816)Gag>Aag	p.E1272K	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.E1279K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1272K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1272K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1279K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1272					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGGGCCCGCTCCCCATCGCTG	0.647000			T	CBFB	AML								6	150					0	0	0.001168	0	0
KRT36	8689	broad.mit.edu	37	17	39644611	39644611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:39644611C>T	ENST00000393986.2	-	4	645	c.433G>A	c.(433-435)Gac>Aac	p.D145N	KRT36_ENST00000328119.6_Missense_Mutation_p.D195N			O76013	KRT36_HUMAN	keratin 36	195	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCGTTGATGTCGGCCTCCACT	0.592000													40	70					0	0	0.001485	0	0
CEP152	22995	broad.mit.edu	37	15	49054851	49054851	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:49054851G>C	ENST00000380950.2	-	18	2486	c.2299C>G	c.(2299-2301)Caa>Gaa	p.Q767E	CEP152_ENST00000399334.3_Missense_Mutation_p.Q767E|CEP152_ENST00000325747.5_Missense_Mutation_p.Q674E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	767					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTGTTGAATGAGTTTT	0.348000													39	31					0	0	0.005524	0	0
KIF24	347240	broad.mit.edu	37	9	34310897	34310897	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:34310897T>C	ENST00000379166.2	-	2	567	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	KIF24_ENST00000379174.3_Missense_Mutation_p.K150E|KIF24_ENST00000402558.2_Missense_Mutation_p.K150E|KIF24_ENST00000345050.2_Missense_Mutation_p.K150E	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	150					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCCTGTTTTTGTATGGTAC	0.403000													28	124					0	0	0.001271	0	0
PPFIA1	8500	broad.mit.edu	37	11	70176348	70176348	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:70176348C>T	ENST00000253925.7	+	8	1215	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R334C|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	334					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGCTGCACAGCGTGAAGCCAC	0.398000													23	42					0	0	0.002299	0	0
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:184046477C>T	ENST00000342981.4	+	26	4429	c.4015C>T	c.(4015-4017)Ctc>Ttc	p.L1339F	EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532000													8	189					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179571657	179571657	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:179571657G>T	ENST00000589042.1	-	101	29290	c.29066C>A	c.(29065-29067)aCc>aAc	p.T9689N	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T9372N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8445N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9372	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTTCTTGGTTGCTGGGGC	0.393000													5	13					5.9392e-07	1.0972e-06	0.001168	1	0
PDE4B	5142	broad.mit.edu	37	1	66798150	66798150	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:66798150G>T	ENST00000371045.5	+	1	464	c.78G>T	c.(76-78)caG>caT	p.Q26H	PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000329654.4_Intron	NM_001037339.1	NP_001032416.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	202					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACAGCCTGCAGCCGCTCCAGC	0.507000													21	35					7.21436e-19	1.43663e-18	0.001216	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													4	39					0	0	0.001984	0	0
THBD	7056	broad.mit.edu	37	20	23029759	23029759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr20:23029759T>C	ENST00000377103.2	-	1	619	c.383A>G	c.(382-384)aAt>aGt	p.N128S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	128	C-type lectin.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGGAGCCCCATTGAGGTCGAG	0.677000													3	8					0	0	0.004672	0	0
TGFB2	7042	broad.mit.edu	37	1	218520300	218520300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:218520300C>T	ENST00000366929.4	+	1	724	c.257C>T	c.(256-258)gCg>gTg	p.A86V	TGFB2_ENST00000366930.4_Missense_Mutation_p.A86V	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	86					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCCGGAGGGCGGCCGCCTGC	0.587000													13	21					0	0	0.001368	0	0
MTA1	9112	broad.mit.edu	37	14	105920571	105920571	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:105920571G>A	ENST00000331320.7	+	7	688	c.474G>A	c.(472-474)aaG>aaA	p.K158K	MTA1_ENST00000406191.1_Silent_p.K158K|MTA1_ENST00000405646.1_Silent_p.K141K	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	158	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CACAGCAGAAGACCCTGCTGG	0.537000													10	49					0	0	0.000673	0	0
TNXB	7148	broad.mit.edu	37	6	32020624	32020624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:32020624C>T	ENST00000375244.3	-	26	9139	c.8938G>A	c.(8938-8940)Gac>Aac	p.D2980N	TNXB_ENST00000375247.2_Missense_Mutation_p.D2978N			P22105	TENX_HUMAN	tenascin XB	3025					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGAAGGAGTCGAAGCGGCCC	0.701000													29	20					0	0	0.001512	0	0
CDK12	51755	broad.mit.edu	37	17	37673784	37673784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:37673784A>G	ENST00000447079.4	+	10	2971	c.2938A>G	c.(2938-2940)Agg>Ggg	p.R980G	CDK12_ENST00000430627.2_Missense_Mutation_p.R980G	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	980	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCAATATCGAAGGCGTCTACG	0.473000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			26	88					0	0	0.003330	0	0
RPH3AL	9501	broad.mit.edu	37	17	171088	171088	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:171088C>T	ENST00000323434.8	-	4	793	c.196G>A	c.(196-198)Gac>Aac	p.D66N	RPH3AL_ENST00000536489.2_Missense_Mutation_p.D66N|RPH3AL_ENST00000331302.7_Missense_Mutation_p.D66N	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	66	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TCCAGGACGTCGAGCCGCTCT	0.682000													29	75					0	0	0.001271	0	0
HMCN1	83872	broad.mit.edu	37	1	186158872	186158872	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:186158872G>A	ENST00000271588.4	+	107	16999	c.16770G>A	c.(16768-16770)gtG>gtA	p.V5590V	HMCN1_ENST00000367492.2_Silent_p.V5473V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5590					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAAGGAGTGGTGTATACAA	0.493000													19	32					0	0	0.006122	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165036	30165036	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:30165036A>C	ENST00000436066.3	+	2	756	c.290A>C	c.(289-291)aAg>aCg	p.K97T	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.K97T	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	97	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CTGCAGGCCAAGAACCGCTGG	0.602000													22	27					0	0	0.002299	0	0
MYOM2	9172	broad.mit.edu	37	8	2044180	2044180	+	Missense_Mutation	SNP	C	C	T	rs149624495	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:2044180C>T	ENST00000262113.4	+	18	2360	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L	MYOM2_ENST00000523438.1_Missense_Mutation_p.S165L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	740	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTGGTGGCTCGCCCATCCTG	0.557000													36	46					0	0	0.004289	0	0
CLN8	2055	broad.mit.edu	37	8	1719415	1719415	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:1719415C>T	ENST00000331222.4	+	2	442	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	65	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCTTCTGGGACCTGGCGGCCA	0.612000													11	42					0	0	0.000673	0	0
PLD5	200150	broad.mit.edu	37	1	242451674	242451674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:242451674G>A	ENST00000442594.2	-	4	718	c.209C>T	c.(208-210)tCa>tTa	p.S70L	PLD5_ENST00000427495.1_Missense_Mutation_p.S100L|PLD5_ENST00000536534.1_Missense_Mutation_p.S162L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	162						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTGACATGCTGATGGATGAGT	0.428000													12	64					0	0	0.001368	0	0
MAGEA1	4100	broad.mit.edu	37	X	152483002	152483002	+	Silent	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chrX:152483002A>T	ENST00000356661.5	-	3	227	c.9T>A	c.(7-9)ctT>ctA	p.L3L		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	3						cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGCTCAAGAGACATGA	0.622000													36	18					0	0	0.003755	0	0
STK31	56164	broad.mit.edu	37	7	23809341	23809341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:23809341C>A	ENST00000354639.3	+	13	2074	c.1610C>A	c.(1609-1611)tCa>tAa	p.S537*	STK31_ENST00000355870.3_Nonsense_Mutation_p.S560*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonsense_Mutation_p.S560*|STK31_ENST00000428484.1_Nonsense_Mutation_p.S537*	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	560							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGACTGAGTCAAGTGTCTGC	0.378000													36	96					3.21399e-22	6.54176e-22	0.004878	1	0
ZNF654	55279	broad.mit.edu	37	3	88188518	88188518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:88188518C>T	ENST00000309495.5	+	1	265	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCAGGCTCATCAGAAAAAAGG	0.383000													10	21					0	0	0.000978	0	0
CD200R1	131450	broad.mit.edu	37	3	112648206	112648206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:112648206C>G	ENST00000471858.1	-	3	514	c.282G>C	c.(280-282)gaG>gaC	p.E94D	CD200R1_ENST00000295863.4_Missense_Mutation_p.E72D|CD200R1_ENST00000308611.3_Missense_Mutation_p.E117D|CD200R1_ENST00000440122.2_Missense_Mutation_p.E117D|CD200R1_ENST00000490004.1_Missense_Mutation_p.E94D	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	94	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTTCCTTGGTCTCATTTGTTT	0.448000													8	109					0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57327825	57327825	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:57327825C>A	ENST00000326441.9	-	10	2348	c.1985G>T	c.(1984-1986)tGt>tTt	p.C662F	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C536F|PEG3_ENST00000423103.2_Missense_Mutation_p.C662F|PEG3_ENST00000598410.1_Missense_Mutation_p.C538F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	662					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTCCTCACACACTTTACC	0.438000													27	91					1.26454e-06	2.32676e-06	0.005443	1	0
KMT2A	4297	broad.mit.edu	37	11	118392789	118392789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:118392789G>A	ENST00000534358.1	+	36	11844	c.11821G>A	c.(11821-11823)Gag>Aag	p.E3941K	RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3900K|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.E3938K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTACCGAGGAGAGGAACTCAC	0.478000													12	70					0	0	0.001368	0	0
FGF12	2257	broad.mit.edu	37	3	191888366	191888366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:191888366C>T	ENST00000454309.2	-	4	1319	c.494G>A	c.(493-495)cGc>cAc	p.R165H	FGF12_ENST00000445105.1_Missense_Mutation_p.R103H|FGF12_ENST00000264730.3_Missense_Mutation_p.R103H|FGF12_ENST00000430714.1_Missense_Mutation_p.R66H|FGF12_ENST00000450716.1_Missense_Mutation_p.R103H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	165					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCTTGCTGGCGGTACAGTGT	0.393000													13	293					0	0	0.001368	0	0
UCK2	7371	broad.mit.edu	37	1	165860556	165860556	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:165860556C>G	ENST00000367879.4	+	3	656	c.353C>G	c.(352-354)tCc>tGc	p.S118C	UCK2_ENST00000372212.4_Missense_Mutation_p.S118C	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	118					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GTCTCCCATTCCCGGTAAGTG	0.502000													7	20					0	0	0.001984	0	0
ZIC5	85416	broad.mit.edu	37	13	100622499	100622499	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr13:100622499C>G	ENST00000267294.4	-	1	1664	c.1431G>C	c.(1429-1431)aaG>aaC	p.K477N		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	477					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTTGATGAGCTTGTATTTGG	0.642000													5	113					0	0	0.000602	0	0
TBCD	6904	broad.mit.edu	37	17	80865685	80865685	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:80865685G>A	ENST00000355528.4	+	21	2101	c.1971G>A	c.(1969-1971)caG>caA	p.Q657Q	TBCD_ENST00000539345.2_Silent_p.Q657Q|TBCD_ENST00000397466.2_Silent_p.Q271Q	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	657					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGAAGCAGATTCACCAGC	0.617000													4	13					0	0	0.000602	0	0
CPNE1	8904	broad.mit.edu	37	20	34214297	34214297	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr20:34214297G>A	ENST00000317619.3	-	18	1874	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	CPNE1_ENST00000352393.4_Missense_Mutation_p.R494W|CPNE1_ENST00000397446.1_Missense_Mutation_p.R494W|CPNE1_ENST00000397443.1_Missense_Mutation_p.R494W|CPNE1_ENST00000397442.1_Missense_Mutation_p.R438W|CPNE1_ENST00000317677.5_Missense_Mutation_p.R499W|CPNE1_ENST00000397445.1_Missense_Mutation_p.R494W			Q99829	CPNE1_HUMAN	copine I	494	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AATGCCTCCCGAGGGGCCTGC	0.572000													27	67					0	0	0.001271	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629472	155629472	+	Silent	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:155629472T>A	ENST00000368340.5	-	10	2691	c.2583A>T	c.(2581-2583)acA>acT	p.T861T	YY1AP1_ENST00000295566.4_Silent_p.T789T|YY1AP1_ENST00000407221.1_Silent_p.T712T|YY1AP1_ENST00000404643.1_Silent_p.T723T|YY1AP1_ENST00000368330.2_Silent_p.T743T|YY1AP1_ENST00000359205.5_Silent_p.T732T|YY1AP1_ENST00000355499.4_Silent_p.T743T|YY1AP1_ENST00000311573.5_Silent_p.T712T|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.T743T|YY1AP1_ENST00000368339.5_Silent_p.T881T|YY1AP1_ENST00000361831.5_Silent_p.T732T|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Silent_p.T589T	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGATTTCCTCTGTAGCATCTT	0.507000													7	213					0	0	0.001984	0	0
GRID2	2895	broad.mit.edu	37	4	94145828	94145828	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr4:94145828G>A	ENST00000282020.4	+	7	1285	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	GRID2_ENST00000510992.1_Missense_Mutation_p.E248K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	343					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TAAGAAGCTGGAGGACCGAAA	0.443000													10	18					0	0	0.000443	0	0
MICAL3	57553	broad.mit.edu	37	22	18384651	18384651	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr22:18384651G>A	ENST00000441493.2	-	5	1036	c.684C>T	c.(682-684)acC>acT	p.T228T	MICAL3_ENST00000414725.2_Silent_p.T228T|MICAL3_ENST00000444520.1_Silent_p.T228T|MICAL3_ENST00000207726.7_Silent_p.T228T|MICAL3_ENST00000585038.1_Silent_p.T228T|MICAL3_ENST00000383094.3_Silent_p.T228T|MICAL3_ENST00000429452.1_Silent_p.T228T|MICAL3_ENST00000400561.2_Silent_p.T228T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	228						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TACCTTCCAAGGTGTTCCTCC	0.562000													6	29					0	0	0.003080	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	40					0	0	0.000602	0	0
STAG1	10274	broad.mit.edu	37	3	136221571	136221571	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:136221571G>T	ENST00000383202.2	-	8	983	c.727C>A	c.(727-729)Cat>Aat	p.H243N	STAG1_ENST00000434713.2_Missense_Mutation_p.H17N|STAG1_ENST00000236698.5_Missense_Mutation_p.H243N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	243					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTATCCTGATGAATACTGAGG	0.363000													9	60					5.4927e-09	1.03551e-08	0.004482	1	0
COL14A1	7373	broad.mit.edu	37	8	121282288	121282288	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:121282288A>G	ENST00000297848.3	+	26	3358	c.3088A>G	c.(3088-3090)Aag>Gag	p.K1030E	COL14A1_ENST00000247781.3_Missense_Mutation_p.K935E|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1030E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1030					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGGCGGCCAAGGCTGACCT	0.403000													5	55					0	0	0.001984	0	0
ZNF100	163227	broad.mit.edu	37	19	21909734	21909734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:21909734G>T	ENST00000358296.6	-	5	1578	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	ZNF100_ENST00000305570.6_Missense_Mutation_p.D396E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGCCACATTCGTCACATTTGT	0.408000													11	89					6.40141e-05	0.000113256	0.000978	1	0
MATN4	8785	broad.mit.edu	37	20	43929779	43929779	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr20:43929779C>T	ENST00000537548.1	-	6	1096	c.852G>A	c.(850-852)gaG>gaA	p.E284E	MATN4_ENST00000372756.1_Silent_p.E284E|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Silent_p.E325E|MATN4_ENST00000360607.5_Silent_p.E243E|MATN4_ENST00000372751.4_Silent_p.E135E|MATN4_ENST00000342716.4_Silent_p.E284E|MATN4_ENST00000372753.1_Silent_p.E135E			O95460	MATN4_HUMAN	matrilin 4	325	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGTCATGGCCCTCTCTGCAGT	0.582000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	51					0	0	0.001984	0	0
GNL3	26354	broad.mit.edu	37	3	52723170	52723170	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:52723170G>A	ENST00000394799.2	+	6	663	c.453G>A	c.(451-453)gaG>gaA	p.E151E	GNL3_ENST00000418458.1_Silent_p.E163E	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	163					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGGTAGAAGAGGCCATTGTCC	0.448000													13	83					0	0	0.001368	0	0
TMEM150C	441027	broad.mit.edu	37	4	83411227	83411227	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr4:83411227G>A	ENST00000449862.2	-	7	846	c.528C>T	c.(526-528)ctC>ctT	p.L176L	TMEM150C_ENST00000515780.1_Silent_p.L176L	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	176						integral to membrane				ovary(1)	1						GGACCACACAGAGAGTGATAG	0.463000													17	33					0	0	0.001216	0	0
CDK15	65061	broad.mit.edu	37	2	202744779	202744779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:202744779C>A	ENST00000450471.2	+	12	1173	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	CDK15_ENST00000374598.4_Missense_Mutation_p.L363M|CDK15_ENST00000260967.2_Missense_Mutation_p.L312M|CDK15_ENST00000434439.1_Missense_Mutation_p.L363M|CDK15_ENST00000410091.3_Missense_Mutation_p.L312M	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	363	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGCTGAAGACCTGGCCTCCCA	0.507000													8	29					1.11149e-13	2.17568e-13	0.000673	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885013	24885013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:24885013C>T	ENST00000382554.3	+	9	4376	c.4058C>T	c.(4057-4059)gCc>gTc	p.A1353V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1353					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAACCTATGCCCACCTGGCA	0.607000													16	131					0	0	0.003163	0	0
GRID1	2894	broad.mit.edu	37	10	87407143	87407143	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:87407143T>G	ENST00000327946.7	-	13	2094	c.2009A>C	c.(2008-2010)gAc>gCc	p.D670A	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.D241A	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	670						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTTGGACAGGTCCTGGAAAGT	0.522000										Multiple Myeloma(13;0.14)			14	153					0	0	0.001855	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39412084	39412084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:39412084C>A	ENST00000394008.1	+	1	449	c.447C>A	c.(445-447)tgC>tgA	p.C149*		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	149						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGACCACCTGCTGCAGGACCA	0.602000													78	170					3.54697e-40	7.34957e-40	0.003610	1	0
DPF2	5977	broad.mit.edu	37	11	65108938	65108938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:65108938C>T	ENST00000528416.1	+	4	503	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	DPF2_ENST00000252268.4_Missense_Mutation_p.R124C|DPF2_ENST00000415073.2_Missense_Mutation_p.R124C|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	124					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GGCTCTGTTGCGCACTGACCC	0.567000													10	40					0	0	0.000443	0	0
PLD1	5337	broad.mit.edu	37	3	171451288	171451288	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:171451288T>C	ENST00000356327.5	-	6	622	c.552A>G	c.(550-552)gaA>gaG	p.E184E	PLD1_ENST00000351298.4_Silent_p.E184E|PLD1_ENST00000340989.4_Silent_p.E184E|PLD1_ENST00000342215.6_Silent_p.E184E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	184	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCAAGTAATCTTCCAGTTGTT	0.284000													4	37					0	0	0.000602	0	0
RNF145	153830	broad.mit.edu	37	5	158588301	158588301	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:158588301G>T	ENST00000424310.2	-	10	1958	c.1599C>A	c.(1597-1599)caC>caA	p.H533Q	RNF145_ENST00000520638.1_Missense_Mutation_p.H547Q|RNF145_ENST00000518802.1_Missense_Mutation_p.H563Q|RNF145_ENST00000519865.1_Missense_Mutation_p.H533Q|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.H550Q|RNF145_ENST00000274542.2_Missense_Mutation_p.H561Q	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	533						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATATCATTGTGTTTCTCAA	0.433000													6	39					2.7689e-08	5.17761e-08	0.001984	1	0
PLXNB2	23654	broad.mit.edu	37	22	50727541	50727541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr22:50727541C>T	ENST00000449103.1	-	4	1239	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E367K			O15031	PLXB2_HUMAN	plexin B2	367	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGTGCTCCGAGCCACAT	0.692000													7	9					0	0	0.001984	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330022	88330022	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr13:88330022G>A	ENST00000325089.6	+	2	2598	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	SLITRK5_ENST00000400028.3_Silent_p.Q552Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	793						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCTgcagcagcagcagc	0.662000													12	18					0	0	0.001855	0	0
CBX1	10951	broad.mit.edu	37	17	46153470	46153470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:46153470G>A	ENST00000393408.3	-	3	691	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	CBX1_ENST00000225603.4_Nonsense_Mutation_p.Q71*|CBX1_ENST00000495350.1_Nonsense_Mutation_p.Q71*	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	71	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GCTGTTTTCTGTGACTGCAGA	0.483000													15	74					0	0	0.002450	0	0
XAB2	56949	broad.mit.edu	37	19	7685195	7685195	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:7685195C>A	ENST00000358368.4	-	16	2269	c.2232G>T	c.(2230-2232)caG>caT	p.Q744H	XAB2_ENST00000534844.1_Missense_Mutation_p.Q741H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	744					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCTTGAGCATCTGCGAGGCCA	0.627000								Direct reversal of damage;Nucleotide excision repair (NER)					6	43					3.59834e-05	6.41564e-05	0.001168	1	0
PDE4B	5142	broad.mit.edu	37	1	66798151	66798151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:66798151C>T	ENST00000371045.5	+	1	465	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000329654.4_Intron	NM_001037339.1	NP_001032416.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	203					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CAGCCTGCAGCCGCTCCAGCC	0.507000													20	34					0	0	0.000958	0	0
DENND5B	160518	broad.mit.edu	37	12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E|DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443000													10	20					0	0	0.000443	0	0
ZNF208	7757	broad.mit.edu	37	19	22156525	22156525	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:22156525G>A	ENST00000397126.4	-	4	1459	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.378000													24	75					0	0	0.003954	0	0
PARP15	165631	broad.mit.edu	37	3	122345843	122345843	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:122345843A>G	ENST00000464300.2	+	9	1467	c.1401A>G	c.(1399-1401)gcA>gcG	p.A467A	PARP15_ENST00000310366.4_Silent_p.A233A|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	445	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACCTCTCTGCATCACTGAACT	0.353000													8	47					0	0	0.004482	0	0
MID1	4281	broad.mit.edu	37	X	10437743	10437743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chrX:10437743C>T	ENST00000317552.4	-	7	1679	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	MID1_ENST00000380779.1_Missense_Mutation_p.V427I|MID1_ENST00000380787.1_Missense_Mutation_p.V427I|MID1_ENST00000380780.1_Missense_Mutation_p.V427I|MID1_ENST00000380782.2_Missense_Mutation_p.V427I|MID1_ENST00000453318.2_Missense_Mutation_p.V427I|MID1_ENST00000380785.1_Missense_Mutation_p.V427I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	427	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCACTAACGACGTTGGCTTGT	0.443000													21	37					0	0	0.001882	0	0
CEP85L	387119	broad.mit.edu	37	6	118887417	118887417	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:118887417T>C	ENST00000368491.3	-	3	916	c.295A>G	c.(295-297)Act>Gct	p.T99A	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000419517.2_Missense_Mutation_p.T99A|CEP85L_ENST00000392500.3_Missense_Mutation_p.T102A|CEP85L_ENST00000368488.5_Missense_Mutation_p.T102A	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	99						centrosome											ACATGGGCAGTAGGAAGAGTA	0.383000													6	27					0	0	0.001984	0	0
ACSS2	55902	broad.mit.edu	37	20	33470765	33470765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr20:33470765A>T	ENST00000360596.2	+	2	558	c.347A>T	c.(346-348)aAg>aTg	p.K116M	ACSS2_ENST00000336325.4_Missense_Mutation_p.K66M|ACSS2_ENST00000253382.5_Missense_Mutation_p.K116M|ACSS2_ENST00000476922.1_3'UTR	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	116					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGAGAAAAAGCTTGGAGAT	0.353000													4	22					0	0	0.000248	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478140	42478140	+	Missense_Mutation	SNP	T	T	G	rs143765658	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:42478140T>G	ENST00000434000.1	-	9	1353	c.1071A>C	c.(1069-1071)aaA>aaC	p.K357N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.K435N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	435						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)		AACTGCCTTTTTTACTCTCTG	0.443000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	181					0	0	0.001855	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465121	5465121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:5465121C>T	ENST00000296564.7	+	13	5896	c.5674C>T	c.(5674-5676)Cca>Tca	p.P1892S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1892										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGTTCTAGTCCAGCCGTCAG	0.468000													6	27					0	0	0.001168	0	0
ZNF701	55762	broad.mit.edu	37	19	53086647	53086647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:53086647G>T	ENST00000540331.1	+	5	1758	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	ZNF701_ENST00000301093.2_Missense_Mutation_p.K511N|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.K445N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATGTGGCAAGGTTTTTAATC	0.348000													17	33					5.03518e-11	9.65077e-11	0.000958	1	0
TMEM132D	121256	broad.mit.edu	37	12	129563188	129563188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr12:129563188C>A	ENST00000422113.2	-	8	2332	c.2006G>T	c.(2005-2007)gGg>gTg	p.G669V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G207V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	669						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCACCCCGAGGTCTGT	0.582000													34	56					1.61788e-16	3.20786e-16	0.002445	1	0
EDC4	23644	broad.mit.edu	37	16	67917557	67917557	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:67917557G>A	ENST00000358933.5	+	28	4175	c.3936G>A	c.(3934-3936)ccG>ccA	p.P1312P	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1312					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CACCCTGCCCGCTCTCCCAGC	0.587000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	186					0	0	0.002836	0	0
C16orf62	57020	broad.mit.edu	37	16	19586419	19586419	+	Splice_Site	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:19586419G>A	ENST00000438132.3	+	5	723		c.e5-1		C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000538853.1_Splice_Site|C16orf62_ENST00000542263.1_Splice_Site	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCTCTGCAGAATCTGTTTA	0.294000													5	33					0	0	0.000602	0	0
BAG4	9530	broad.mit.edu	37	8	38066593	38066593	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:38066593A>G	ENST00000287322.4	+	4	967	c.696A>G	c.(694-696)tcA>tcG	p.S232S	BAG4_ENST00000432471.2_Silent_p.S196S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	232					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTCCACAATCAGGACCGACTG	0.498000													6	26					0	0	0.003080	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375488	113375488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:113375488A>G	ENST00000316407.4	-	7	5451	c.5041T>C	c.(5041-5043)Tca>Cca	p.S1681P	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1681P|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1681					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTCTGCTCTGAATTAGAAGAT	0.413000													100	38					0	0	0.003610	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876609	139876609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:139876609C>G	ENST00000297183.6	+	15	2874	c.2750C>G	c.(2749-2751)cCa>cGa	p.P917R	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P917R|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P917R	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCTCCACCATCGGCAGAA	0.413000													32	44					0	0	0.002445	0	0
CORO7	79585	broad.mit.edu	37	16	4408429	4408429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:4408429C>T	ENST00000251166.4	-	24	2541	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	CORO7_ENST00000537233.2_Missense_Mutation_p.R781Q|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R799Q|CORO7_ENST00000574025.1_Missense_Mutation_p.R714Q|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Missense_Mutation_p.R579Q	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCGCAGGCACCGCATCAGCTC	0.697000													5	33					0	0	0.000602	0	0
MEI1	150365	broad.mit.edu	37	22	42128529	42128529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr22:42128529G>A	ENST00000401548.3	+	11	1293	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.R158H	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	418							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GATGCTGGCCGTGCCCTCCAA	0.552000													23	39					0	0	0.002299	0	0
CSMD1	64478	broad.mit.edu	37	8	4494992	4494992	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:4494992G>A	ENST00000520002.1	-	2	729	c.174C>T	c.(172-174)tgC>tgT	p.C58C	CSMD1_ENST00000602723.1_Silent_p.C58C|CSMD1_ENST00000539096.1_Silent_p.C58C|CSMD1_ENST00000602557.1_Silent_p.C58C|CSMD1_ENST00000542608.1_Silent_p.C58C|CSMD1_ENST00000537824.1_Silent_p.C58C|CSMD1_ENST00000400186.3_Silent_p.C58C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	58	CUB 1.					integral to membrane		p.C58C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATCCAGGTGCAGTTGGCAT	0.478000													5	79					0	0	0.000602	0	0
C11orf16	56673	broad.mit.edu	37	11	8947244	8947244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:8947244C>G	ENST00000326053.5	-	5	1076	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E324Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	324										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCTACTTTCTCCTCTTTAGGA	0.552000													13	55					0	0	0.003163	0	0
UBAP2	55833	broad.mit.edu	37	9	33927875	33927875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:33927875G>A	ENST00000379238.1	-	20	2408	c.2291C>T	c.(2290-2292)aCc>aTc	p.T764I	UBAP2_ENST00000379239.4_Missense_Mutation_p.T497I|UBAP2_ENST00000539807.1_Missense_Mutation_p.T519I|UBAP2_ENST00000379235.1_Missense_Mutation_p.T3I|UBAP2_ENST00000449054.1_Missense_Mutation_p.T764I|UBAP2_ENST00000360802.1_Missense_Mutation_p.T764I|UBAP2_ENST00000418786.2_3'UTR			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	764										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCTGTTCGCGGTGTTCATGCT	0.637000													30	44					0	0	0.001271	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786087	156786087	+	Splice_Site	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:156786087C>A	ENST00000442283.2	+	25	2882		c.e25+1		CYFIP2_ENST00000541131.1_Silent_p.I841I|CYFIP2_ENST00000522463.1_Silent_p.I720I|CYFIP2_ENST00000318218.6_Silent_p.I941I|CYFIP2_ENST00000377576.3_Silent_p.I916I|CYFIP2_ENST00000435847.2_Silent_p.I615I|CYFIP2_ENST00000521420.1_Silent_p.I890I|CYFIP2_ENST00000347377.6_Silent_p.I916I	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAAGACTATCTGCAGACTCC	0.488000													51	73					4.01344e-20	8.06193e-20	0.003610	1	0
FAM13A	10144	broad.mit.edu	37	4	89827587	89827587	+	Silent	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr4:89827587G>C	ENST00000264344.5	-	6	993	c.786C>G	c.(784-786)ccC>ccG	p.P262P	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Silent_p.P53P	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	262					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTAAAAGGATGGGCAGGGAGT	0.368000													20	258					0	0	0.002780	0	0
IFIT5	24138	broad.mit.edu	37	10	91177111	91177111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:91177111C>T	ENST00000371795.4	+	2	368	c.155C>T	c.(154-156)gCt>gTt	p.A52V	IFIT5_ENST00000416601.1_Missense_Mutation_p.A52V	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	52							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCTAGACTTGCTCTTTATAAC	0.373000													8	60					0	0	0.004482	0	0
COL1A2	1278	broad.mit.edu	37	7	94054509	94054509	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:94054509C>T	ENST00000297268.6	+	42	3225	c.2754C>T	c.(2752-2754)aaC>aaT	p.N918N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	918					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGAGTCAACGGTGCTCCTG	0.522000										HNSCC(75;0.22)			4	43					0	0	0.000248	0	0
NUP214	8021	broad.mit.edu	37	9	134073597	134073597	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:134073597G>T	ENST00000359428.5	+	29	4860	c.4716G>T	c.(4714-4716)acG>acT	p.T1572T	NUP214_ENST00000411637.2_Silent_p.T1562T|NUP214_ENST00000483497.2_Silent_p.T398T|NUP214_ENST00000451030.1_Silent_p.T1573T			P35658	NU214_HUMAN	nucleoporin 214kDa	1572	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGCCACCACGGGGGTCCCTG	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								6	113					0.00116845	0.00201305	0.001168	1	0
GZMB	3002	broad.mit.edu	37	14	25100420	25100420	+	Splice_Site	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:25100420C>G	ENST00000216341.4	-	5	707	c.600_splice	c.e5-1	p.G201_splice	RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Splice_Site_p.G156_splice|GZMB_ENST00000382542.1_Splice_Site_p.G235_splice|GZMB_ENST00000415355.3_Splice_Site_p.G189_splice			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	201	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCAGAGTCCCCCTGTGAATAG	0.557000													5	68					0	0	0.000602	0	0
FGFR1	2260	broad.mit.edu	37	8	38280635	38280635	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:38280635G>A	ENST00000341462.5	-	8	1939	c.998C>T	c.(997-999)gCc>gTc	p.A333V	FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000532791.1_Intron|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000447712.2_Intron|FGFR1_ENST00000397103.1_Missense_Mutation_p.A241V|FGFR1_ENST00000335922.5_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000397113.2_Intron			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	334	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCGCTCTGGGCCTCTGTCAC	0.517000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						10	16					0	0	0.000673	0	0
DPP6	1804	broad.mit.edu	37	7	154561126	154561126	+	Splice_Site	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:154561126G>C	ENST00000404039.1	+	9	1278		c.e9-1		DPP6_ENST00000377770.3_Splice_Site|DPP6_ENST00000332007.3_Splice_Site|DPP6_ENST00000427557.1_Splice_Site	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTCCCTTAGAGGAGATTTT	0.512000													8	71					0	0	0.003080	0	0
SEMA3C	10512	broad.mit.edu	37	7	80432017	80432017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:80432017C>T	ENST00000265361.3	-	9	1441	c.880G>A	c.(880-882)Gat>Aat	p.D294N	SEMA3C_ENST00000419255.2_Missense_Mutation_p.D294N|SEMA3C_ENST00000544525.1_Missense_Mutation_p.D312N|SEMA3C_ENST00000536800.1_Missense_Mutation_p.D146N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	294	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGTCTTCATCTGTTACCGAG	0.383000													6	69					0	0	0.001984	0	0
ZEB1	6935	broad.mit.edu	37	10	31810429	31810429	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:31810429A>G	ENST00000446923.2	+	7	2509	c.2118A>G	c.(2116-2118)acA>acG	p.T706T	ZEB1_ENST00000361642.5_Silent_p.T723T|ZEB1_ENST00000560721.2_Silent_p.T702T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Silent_p.T655T|ZEB1_ENST00000320985.10_Silent_p.T722T	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	722					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTTGTACACAGCTGAGGGTG	0.438000													7	41					0	0	0.001984	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291434	5291434	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr18:5291434G>C	ENST00000357006.4	-	4	1111	c.773C>G	c.(772-774)aCa>aGa	p.T258R	ZBTB14_ENST00000400143.3_Missense_Mutation_p.T258R	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		ACTGGCGGCTGTTGTCCAGCC	0.493000													32	110					0	0	0.002836	0	0
ARSF	416	broad.mit.edu	37	X	3021856	3021856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chrX:3021856C>T	ENST00000381127.1	+	9	1377	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	ARSF_ENST00000537104.1_Nonsense_Mutation_p.R386*|ARSF_ENST00000359361.2_Nonsense_Mutation_p.R386*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	386						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGAATTGTCCGATGGCCTGG	0.458000													12	11					0	0	0.001368	0	0
SCGN	10590	broad.mit.edu	37	6	25701545	25701545	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:25701545G>T	ENST00000377961.2	+	11	981	c.813G>T	c.(811-813)ggG>ggT	p.G271G	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	271	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGTGTCTTGGGCTGAAAATCA	0.463000													24	34					7.87624e-14	1.55497e-13	0.002780	1	0
MFN1	55669	broad.mit.edu	37	3	179082171	179082171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:179082171C>G	ENST00000471841.1	+	6	749	c.623C>G	c.(622-624)tCt>tGt	p.S208C	MFN1_ENST00000280653.7_Missense_Mutation_p.S208C|MFN1_ENST00000263969.5_Missense_Mutation_p.S208C	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	208					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTCGCAAACTCTGAATCAACA	0.373000													3	36					0	0	0.004672	0	0
OLIG3	167826	broad.mit.edu	37	6	137815177	137815177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:137815177T>C	ENST00000367734.2	-	1	354	c.131A>G	c.(130-132)cAg>cGg	p.Q44R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CATATCGCCCTGCGTGGACGA	0.607000													35	63					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179571656	179571656	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:179571656G>T	ENST00000589042.1	-	101	29291	c.29067C>A	c.(29065-29067)acC>acA	p.T9689T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.T9372T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T8445T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9372	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTTTCTTGGTTGCTGGGG	0.393000													5	13					5.9392e-07	1.0972e-06	0.001168	1	0
WHAMM	123720	broad.mit.edu	37	15	83478538	83478538	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:83478538C>T	ENST00000286760.4	+	1	159	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	20						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGGGCCTCTTCGCCGAGCCCG	0.731000													12	20					0	0	0.000978	0	0
COL4A4	1286	broad.mit.edu	37	2	227924130	227924130	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:227924130C>G	ENST00000396625.3	-	28	2581	c.2374G>C	c.(2374-2376)Ggg>Cgg	p.G792R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G792R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	792	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTCAGCCCCTGGACATCCC	0.537000													4	151					0	0	0.001168	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594129	136594129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:136594129G>A	ENST00000355849.5	+	6	1030	c.620G>A	c.(619-621)gGa>gAa	p.G207E	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	207					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGGGGAAGGGGAGGAGTTACA	0.483000													25	72					0	0	0.001786	0	0
NLRP2	55655	broad.mit.edu	37	19	55501499	55501499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:55501499G>T	ENST00000543010.1	+	9	2619	c.2476G>T	c.(2476-2478)Gag>Tag	p.E826*	NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E803*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E804*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E802*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E823*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E802*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E826*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E804*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	826					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTTCTGGATGAGGGTGCTAA	0.517000													19	65					3.70931e-20	7.48371e-20	0.006122	1	0
OR7D2	162998	broad.mit.edu	37	19	9296822	9296822	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:9296822G>A	ENST00000344248.2	+	1	544	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCCTATGACCGGTTTGTGGCT	0.502000													11	140					0	0	0.000673	0	0
ATR	545	broad.mit.edu	37	3	142278147	142278147	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:142278147C>T	ENST00000350721.4	-	7	1799	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ATR_ENST00000383101.3_Missense_Mutation_p.E496K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	560					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGGTTGCCTCCAGGTCCAGT	0.348000								Other conserved DNA damage response genes					7	47					0	0	0.003080	0	0
RNF25	64320	broad.mit.edu	37	2	219528721	219528721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:219528721G>A	ENST00000295704.2	-	10	1779	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	447					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCCTCCGAGTACCAGGC	0.607000													9	95					0	0	0.000443	0	0
ZNF618	114991	broad.mit.edu	37	9	116810994	116810994	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:116810994A>G	ENST00000288466.7	+	14	1232	c.1133A>G	c.(1132-1134)gAg>gGg	p.E378G	ZNF618_ENST00000374126.5_Missense_Mutation_p.E471G|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AACATCGCAGAGCGGCTGTTG	0.557000													25	63					0	0	0.004656	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	15					0	0	0.001368	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	44					0	0	0.001984	0	0
BCAR1	9564	broad.mit.edu	37	16	75276926	75276926	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:75276926G>T	ENST00000418647.3	-	3	496	c.213C>A	c.(211-213)cgC>cgA	p.R71R	BCAR1_ENST00000393420.6_Silent_p.R25R|BCAR1_ENST00000393422.2_Silent_p.R43R|BCAR1_ENST00000162330.5_Silent_p.R25R|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000542031.2_Silent_p.R23R|BCAR1_ENST00000538440.2_Silent_p.R25R|BCAR1_ENST00000535626.2_Silent_p.R25R|BCAR1_ENST00000420641.3_Silent_p.R43R	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	25					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCACCCTTGCGGAAGGAGA	0.627000													7	44					2.0095e-06	3.68274e-06	0.001984	1	0
WFS1	7466	broad.mit.edu	37	4	6302536	6302536	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr4:6302536C>T	ENST00000226760.1	+	8	1184	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	WFS1_ENST00000503569.1_Silent_p.I338I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	338					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ACCTCACCATCGACTTCTTCG	0.562000													22	55					0	0	0.002780	0	0
ALMS1P	200420	broad.mit.edu	37	2	73899462	73899462	+	RNA	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:73899462G>A	ENST00000450720.1	+	0	334					NR_003683.2																						GAACGGTGCCGAAAAACACAC	0.463000													7	19					0	0	0.001984	0	0
DEPDC5	9681	broad.mit.edu	37	22	32198787	32198787	+	Silent	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr22:32198787A>T	ENST00000400246.1	+	15	1186	c.1044A>T	c.(1042-1044)ctA>ctT	p.L348L	DEPDC5_ENST00000266091.3_Silent_p.L348L|DEPDC5_ENST00000536766.1_Silent_p.L320L|DEPDC5_ENST00000535622.1_Silent_p.L348L|DEPDC5_ENST00000400242.3_Silent_p.L348L|DEPDC5_ENST00000400248.1_Silent_p.L348L|DEPDC5_ENST00000400249.2_Silent_p.L348L|DEPDC5_ENST00000382105.2_Silent_p.L348L|DEPDC5_ENST00000382111.2_Silent_p.L348L|DEPDC5_ENST00000382112.3_Silent_p.L348L			O75140	DEPD5_HUMAN	DEP domain containing 5	348					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGACCGCCTACTCATGATCC	0.502000													21	56					0	0	0.002299	0	0
KIAA1586	57691	broad.mit.edu	37	6	56917579	56917579	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:56917579C>T	ENST00000370733.4	+	4	489	c.282C>T	c.(280-282)agC>agT	p.S94S	KIAA1586_ENST00000545356.1_Silent_p.S67S|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	94							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAAGTGAGCAAAAATCACT	0.338000													10	42					0	0	0.000443	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243254	23243254	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:23243254A>G	ENST00000397532.3	-	9	1842	c.1317T>C	c.(1315-1317)gaT>gaC	p.D439D	SLC7A7_ENST00000397529.2_Silent_p.D439D|SLC7A7_ENST00000397528.4_Silent_p.D439D|SLC7A7_ENST00000555702.1_Silent_p.D439D|SLC7A7_ENST00000285850.7_Silent_p.D439D|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Silent_p.D173D			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	439					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGTTGATAGTATCACTGTAAA	0.507000													34	60					0	0	0.005524	0	0
RAB19	401409	broad.mit.edu	37	7	140125753	140125753	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:140125753G>T	ENST00000275874.5	+	5	796	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	RAB19_ENST00000537763.1_Missense_Mutation_p.G153C|RAB19_ENST00000356407.3_Missense_Mutation_p.G153C			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	153					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TGAGAAGTACGGCCTCCTGGC	0.522000													42	87					1.62957e-23	3.34644e-23	0.001951	1	0
TIMM44	10469	broad.mit.edu	37	19	7997752	7997752	+	Missense_Mutation	SNP	G	G	A	rs41539862		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:7997752G>A	ENST00000270538.3	-	8	1103	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	279					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTGTCCGTAAGGGCCCGGGAT	0.632000													4	84					0	0	0.000602	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242731	60242731	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr18:60242731C>T	ENST00000269499.5	+	13	3835	c.3417C>T	c.(3415-3417)agC>agT	p.S1139S	ZCCHC2_ENST00000586834.1_Silent_p.S818S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1139					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGGTGTAAGCGGACACTATG	0.458000													9	25					0	0	0.000443	0	0
DPYD	1806	broad.mit.edu	37	1	97771778	97771778	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:97771778G>C	ENST00000370192.3	-	17	2234	c.2134C>G	c.(2134-2136)Cca>Gca	p.P712A	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	712					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTGACATTTGGGGTCAGCTTG	0.448000													34	146					0	0	0.002096	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286879	55286879	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:55286879G>T	ENST00000336077.6	+	4	673	c.633G>T	c.(631-633)aaG>aaT	p.K211N	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.K211N	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	211					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTGGTCAAAGTCAAGTGACC	0.547000													14	188					0.000308642	0.000537785	0.003163	1	0
SLC25A22	79751	broad.mit.edu	37	11	792580	792580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:792580T>C	ENST00000320230.5	-	7	1041	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	SLC25A22_ENST00000531214.1_Missense_Mutation_p.Y187C	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	187						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GAGTCCCTTGTAGAGACCGGC	0.731000													7	19					0	0	0.001984	0	0
FCAR	2204	broad.mit.edu	37	19	55399565	55399565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:55399565C>T	ENST00000355524.3	+	4	563	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391724.3_Missense_Mutation_p.L173F|FCAR_ENST00000469767.1_Missense_Mutation_p.L185F|FCAR_ENST00000353758.4_Missense_Mutation_p.L76F|FCAR_ENST00000391723.3_Missense_Mutation_p.L173F|FCAR_ENST00000359272.4_Missense_Mutation_p.L173F|FCAR_ENST00000391725.3_Missense_Mutation_p.L185F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	185	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCCTGTGGACCTCAATGTCTC	0.537000													8	17					0	0	0.003080	0	0
GMDS	2762	broad.mit.edu	37	6	1742785	1742785	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:1742785C>A	ENST00000380815.4	-	8	1076	c.807G>T	c.(805-807)gaG>gaT	p.E269D	GMDS_ENST00000530927.1_Missense_Mutation_p.E239D	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	269					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAACGAAGTCCTCCGGCTCAT	0.448000													21	36					3.62473e-10	6.88999e-10	0.001882	1	0
HIRA	7290	broad.mit.edu	37	22	19344526	19344526	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr22:19344526G>T	ENST00000263208.5	-	19	2539	c.2283C>A	c.(2281-2283)tcC>tcA	p.S761S	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Silent_p.S717S|HIRA_ENST00000546308.1_Silent_p.S717S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	761	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACCACAGGTGGAGAACACTG	0.592000													15	166					1.15088e-07	2.14333e-07	0.004007	1	0
RSPRY1	89970	broad.mit.edu	37	16	57238809	57238809	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:57238809C>A	ENST00000537866.1	+	2	1112	c.239C>A	c.(238-240)cCt>cAt	p.P80H	RSPRY1_ENST00000394420.4_Missense_Mutation_p.P80H			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	80						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCACGGGACCCTGTTCGGCCA	0.547000													7	67					0.000157383	0.000276322	0.003080	1	0
FBN3	84467	broad.mit.edu	37	19	8148207	8148207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:8148207G>T	ENST00000600128.1	-	57	7551	c.7137C>A	c.(7135-7137)tgC>tgA	p.C2379*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.C2379*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.C2379*			Q75N90	FBN3_HUMAN	fibrillin 3	2379	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGTTGATGCACTCCCCAT	0.597000													16	64					1.5739e-10	3.00412e-10	0.004007	1	0
NBEA	26960	broad.mit.edu	37	13	36229091	36229091	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr13:36229091A>T	ENST00000540320.1	+	53	8606	c.8072A>T	c.(8071-8073)tAt>tTt	p.Y2691F	NBEA_ENST00000400445.3_Missense_Mutation_p.Y2691F|NBEA_ENST00000379922.3_Missense_Mutation_p.Y269F|NBEA_ENST00000379939.2_Missense_Mutation_p.Y2688F|NBEA_ENST00000537702.1_Missense_Mutation_p.Y484F|NBEA_ENST00000310336.4_Missense_Mutation_p.Y2691F			Q8NFP9	NBEA_HUMAN	neurobeachin	2691						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATAATCGCTATATTCTTATC	0.368000													13	21					0	0	0.001855	0	0
SENP5	205564	broad.mit.edu	37	3	196612534	196612534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:196612534C>T	ENST00000323460.5	+	2	731	c.482C>T	c.(481-483)cCa>cTa	p.P161L	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.P161L	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	161					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGGACAGACCCACAACCTTCT	0.468000													5	61					0	0	0.000602	0	0
MYOD1	4654	broad.mit.edu	37	11	17741386	17741386	+	Silent	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:17741386T>G	ENST00000250003.3	+	1	272	c.57T>G	c.(55-57)tcT>tcG	p.S19S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	19					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCGACGGCTCTCTCTGCTCCT	0.652000													23	40					0	0	0.003330	0	0
ZP4	57829	broad.mit.edu	37	1	238050710	238050710	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:238050710G>C	ENST00000366570.4	-	5	863	c.705C>G	c.(703-705)ttC>ttG	p.F235L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	235	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGGAAACTGGAACAGAACAA	0.522000													12	170					0	0	0.002450	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393659	139393659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:139393659G>A	ENST00000277541.6	-	32	6062	c.5987C>T	c.(5986-5988)aCg>aTg	p.T1996M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1996					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.T1997M(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTGGCGTCGTGCCATCATG	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	51					0	0	0.001168	0	0
RLTPR	146206	broad.mit.edu	37	16	67683451	67683451	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:67683451C>T	ENST00000334583.6	+	20	2176	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	RLTPR_ENST00000545661.1_Silent_p.I580I	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	616	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGCTGGATATCAGCGGCAACG	0.672000													10	46					0	0	0.000443	0	0
UIMC1	51720	broad.mit.edu	37	5	176395738	176395738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:176395738C>G	ENST00000377219.2	-	6	1184	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000511320.1_Missense_Mutation_p.E340Q|UIMC1_ENST00000377227.4_Missense_Mutation_p.E340Q|UIMC1_ENST00000506128.1_Intron	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	340	AIR.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTAGCCTGCTCTCCTTGGCCA	0.463000													43	49					0	0	0.001706	0	0
SETD7	80854	broad.mit.edu	37	4	140439120	140439120	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr4:140439120G>C	ENST00000274031.3	-	7	1475	c.839C>G	c.(838-840)cCc>cGc	p.P280R	SETD7_ENST00000506866.2_Missense_Mutation_p.P280R	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	280	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GTGGTTATAGGGCTCAGGCAC	0.493000													7	84					0	0	0.001984	0	0
SIM1	6492	broad.mit.edu	37	6	100838914	100838914	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:100838914C>T	ENST00000369208.3	-	12	2406	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SIM1_ENST00000262901.4_Missense_Mutation_p.A542T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	542	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATTCACTGGCCGACCCAGGG	0.438000													4	55					0	0	0.000248	0	0
TRRAP	8295	broad.mit.edu	37	7	98567840	98567840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:98567840C>T	ENST00000359863.4	+	51	7806	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2515C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2515C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2533					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGCCACGACCGTGCCGCCTT	0.632000													22	74					0	0	0.003330	0	0
KDM1B	221656	broad.mit.edu	37	6	18217997	18217997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:18217997C>T	ENST00000388870.2	+	21	2510	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	KDM1B_ENST00000297792.5_Missense_Mutation_p.R524W|KDM1B_ENST00000397244.1_Missense_Mutation_p.R525W|KDM1B_ENST00000546309.2_Missense_Mutation_p.R47W			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	756					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTGTCACTCGGTGGAGCAC	0.478000													32	39					0	0	0.001786	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617523	37617523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr21:37617523G>A	ENST00000399151.3	+	19	3330	c.3245G>A	c.(3244-3246)gGc>gAc	p.G1082D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1082					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGCTGCGAGGCGAGCTGAGC	0.632000													4	34					0	0	0.000248	0	0
EEF2K	29904	broad.mit.edu	37	16	22271782	22271782	+	Splice_Site	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:22271782G>C	ENST00000263026.5	+	11	1705		c.e11-1			NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCTGCCCAGATTGGCCAGT	0.547000													5	115					0	0	0.000602	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201942	140201942	+	Silent	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:140201942T>G	ENST00000529859.1	+	1	582	c.582T>G	c.(580-582)gtT>gtG	p.V194V	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.V194V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.V194V	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCTGGTTTTGAGGAAAT	0.353000													24	38					0	0	0.003330	0	0
S1PR3	1903	broad.mit.edu	37	9	91617076	91617076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:91617076C>T	ENST00000375846.3	+	1	5656	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	S1PR3_ENST00000358157.2_Missense_Mutation_p.R321W			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	321					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGTCAGGGGACGGGGGGCCCG	0.612000													19	29					0	0	0.001216	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:140553578G>A	ENST00000231137.3	+	1	1336	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D388Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468000													5	35					0	0	0.001168	0	0
SH2B1	25970	broad.mit.edu	37	16	28877954	28877954	+	Missense_Mutation	SNP	C	C	T	rs144107554		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:28877954C>T	ENST00000337120.5	+	1	3830	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.S180F|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.S180F|SH2B1_ENST00000359285.5_Missense_Mutation_p.S180F	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	180	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GACCCTCCCTCCTCCGCTGGG	0.652000													19	46					0	0	0.001216	0	0
TP53	7157	broad.mit.edu	37	17	7578420	7578420	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:7578420C>A	ENST00000420246.2	-	5	642	c.510G>T	c.(508-510)acG>acT	p.T170T	TP53_ENST00000359597.4_Silent_p.T170T|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Silent_p.T170T|TP53_ENST00000269305.4_Silent_p.T170T|TP53_ENST00000413465.2_Silent_p.T170T|TP53_ENST00000445888.2_Silent_p.T170T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	170	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		MT -> IS (in a sporadic cancer; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> K (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T170T(7)|p.E171fs*10(3)|p.V157_C176del20(1)|p.T170fs*2(1)|p.E171fs*9(1)|p.H168fs*69(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.T170_E171insXX(1)|p.H168fs*3(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCACAACCTCCGTCATGTGCT	0.657000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	26					6.49762e-13	1.26114e-12	0.006122	1	0
PARD6G	84552	broad.mit.edu	37	18	77917833	77917833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr18:77917833C>T	ENST00000353265.3	-	3	1149	c.952G>A	c.(952-954)Gcg>Acg	p.A318T	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	318					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CCTGCGGGCGCGCCCGGGGTC	0.731000													3	5					0	0	0.004672	0	0
LAMA4	3910	broad.mit.edu	37	6	112510314	112510314	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:112510314A>G	ENST00000230538.7	-	7	1209	c.812T>C	c.(811-813)aTa>aCa	p.I271T	LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	271	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTTTTACTTATGGTTGGGCA	0.468000													4	21					0	0	0.000248	0	0
QRFPR	84109	broad.mit.edu	37	4	122250599	122250599	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr4:122250599T>G	ENST00000394427.2	-	6	1577	c.1166A>C	c.(1165-1167)gAa>gCa	p.E389A	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	389						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTGAATGCTTCTCCTTTGGT	0.428000													13	143					0	0	0.004990	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805943	27805943	+	Missense_Mutation	SNP	G	G	C	rs144042626		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:27805943G>C	ENST00000330180.2	-	1	174	c.175C>G	c.(175-177)Cta>Gta	p.L59V		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	59					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGCGGTTAGGTACTCCAAC	0.667000													12	91					0	0	0.000978	0	0
TREML3P	340206	broad.mit.edu	37	6	41184896	41184896	+	RNA	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:41184896C>T	ENST00000564680.1	-	0	314																											TGAGGGTCCACGTAGGAGACG	0.562000													5	71					0	0	0.000602	0	0
TPO	7173	broad.mit.edu	37	2	1497685	1497685	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:1497685A>G	ENST00000345913.4	+	11	1971	c.1880A>G	c.(1879-1881)aAg>aGg	p.K627R	TPO_ENST00000382198.1_Missense_Mutation_p.K454R|TPO_ENST00000382201.3_Missense_Mutation_p.K570R|TPO_ENST00000349624.3_Missense_Mutation_p.K454R|TPO_ENST00000346956.3_Missense_Mutation_p.K627R|TPO_ENST00000337415.3_Missense_Mutation_p.K627R|TPO_ENST00000329066.4_Missense_Mutation_p.K627R|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	627					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACTTGTACAAGCATCCTGAC	0.612000													12	33					0	0	0.001368	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128782	99128782	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:99128782C>G	ENST00000394170.2	+	7	1681	c.1430C>G	c.(1429-1431)tCa>tGa	p.S477*	ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.S477*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.S477*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	477					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGAAAATTTCAGAATATTCA	0.323000													11	145					0	0	0.000673	0	0
NDNL2	56160	broad.mit.edu	37	15	29561491	29561491	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:29561491T>C	ENST00000332303.4	-	1	542	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	140	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CACCAGCTTATACCCGAAGAC	0.577000													3	89					0	0	0.004672	0	0
TPPP2	122664	broad.mit.edu	37	14	21499312	21499312	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:21499312C>A	ENST00000321760.6	+	3	463	c.315C>A	c.(313-315)acC>acA	p.T105T	TPPP2_ENST00000530140.2_Silent_p.T105T|TPPP2_ENST00000460647.2_Silent_p.T105T|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	105						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACCCAGCCACCACTGGCGCTA	0.537000													11	47					3.07112e-06	5.60601e-06	0.000978	1	0
LAMP3	27074	broad.mit.edu	37	3	182871533	182871533	+	Silent	SNP	G	G	A	rs140803277	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:182871533G>A	ENST00000265598.3	-	2	951	c.696C>T	c.(694-696)aaC>aaT	p.N232N	LAMP3_ENST00000466939.1_Silent_p.N208N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	232					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502000													12	121					0	0	0.001368	0	0
APC	324	broad.mit.edu	37	5	112176386	112176386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:112176386G>A	ENST00000457016.1	+	16	5475	c.5095G>A	c.(5095-5097)Gag>Aag	p.E1699K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E1699K|APC_ENST00000508376.2_Missense_Mutation_p.E1699K			P25054	APC_HUMAN	adenomatous polyposis coli	1699	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTACAGATGAGGCTCAAGG	0.423000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	22					0	0	0.001168	0	0
MAPK7	5598	broad.mit.edu	37	17	19286398	19286398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:19286398G>A	ENST00000308406.5	+	7	2691	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	MAPK7_ENST00000395604.3_Missense_Mutation_p.D769N|MAPK7_ENST00000395602.4_Missense_Mutation_p.D769N|MAPK7_ENST00000299612.7_Missense_Mutation_p.D630N|MAPK7_ENST00000571657.1_3'UTR	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	769	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCCAGGCAGATTCAGCCTC	0.597000													28	78					0	0	0.001061	0	0
FARP1	10160	broad.mit.edu	37	13	99043103	99043103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr13:99043103G>C	ENST00000376586.2	+	11	1393	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	FARP1_ENST00000595437.1_Missense_Mutation_p.E353Q|FARP1_ENST00000319562.6_Missense_Mutation_p.E353Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	353					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTATGTTAAAGAAGGAGGACA	0.453000													20	71					0	0	0.001216	0	0
STAR	6770	broad.mit.edu	37	8	38005823	38005823	+	Silent	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr8:38005823G>C	ENST00000276449.4	-	3	647	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	67	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGTCACTGTAGAGAGTCTCTT	0.582000													3	24					0	0	0.004672	0	0
CD163	9332	broad.mit.edu	37	12	7636160	7636160	+	Missense_Mutation	SNP	T	T	G	rs141756075	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr12:7636160T>G	ENST00000359156.4	-	12	3093	c.2891A>C	c.(2890-2892)cAg>cCg	p.Q964P	CD163_ENST00000541972.1_Missense_Mutation_p.Q952P|CD163_ENST00000396620.3_Missense_Mutation_p.Q997P|CD163_ENST00000432237.2_Missense_Mutation_p.Q964P|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	964	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACACACCACCTGAGCATCGTC	0.522000													10	69					0	0	0.000673	0	0
CELF4	56853	broad.mit.edu	37	18	34855109	34855109	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr18:34855109G>T	ENST00000420428.2	-	4	941	c.546C>A	c.(544-546)acC>acA	p.T182T	RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000603232.1_Silent_p.T182T|CELF4_ENST00000591287.1_Silent_p.T181T|CELF4_ENST00000601019.1_Silent_p.T181T|CELF4_ENST00000334919.5_Silent_p.T172T|CELF4_ENST00000588597.1_Silent_p.T171T|CELF4_ENST00000591282.1_Silent_p.T182T|CELF4_ENST00000361795.5_Silent_p.T181T|CELF4_ENST00000412753.1_Silent_p.T182T|RP11-797E24.3_ENST00000588766.1_RNA	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	182	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGCGCAGGATGGTGCACTCCT	0.662000													8	81					1.12685e-05	2.02481e-05	0.004482	1	0
MIR517B	574483	broad.mit.edu	37	19	54224338	54224338	+	RNA	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:54224338C>G	ENST00000385102.1	+	0	9					NR_030205.1																						CTGTGACCCTCTAGATGGAAG	0.423000													12	121					0	0	0.001368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339068	25339068	+	RNA	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:25339068C>T	ENST00000546682.1	+	0	1057				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CCCCTGGGCACGTGCAGCATA	0.512000													9	12					0	0	0.004482	0	0
ENPP4	22875	broad.mit.edu	37	6	46107712	46107712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:46107712G>A	ENST00000321037.4	+	2	622	c.392G>A	c.(391-393)aGt>aAt	p.S131N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	131						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AACAGATCAAGTGCTGCTGCT	0.413000													37	54					0	0	0.001706	0	0
C6orf62	81688	broad.mit.edu	37	6	24706378	24706378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:24706378T>C	ENST00000378119.4	-	5	2844	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	C6orf62_ENST00000540769.1_Missense_Mutation_p.Y168C|C6orf62_ENST00000378102.3_Missense_Mutation_p.Y197C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	226						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CTCTGGCATATAAGGACGGAG	0.443000													25	21					0	0	0.003954	0	0
ASTN2	23245	broad.mit.edu	37	9	119495733	119495733	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:119495733C>T	ENST00000313400.4	-	14	2566	c.2466G>A	c.(2464-2466)gaG>gaA	p.E822E	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.E771E|ASTN2_ENST00000373996.3_Silent_p.E818E			O75129	ASTN2_HUMAN	astrotactin 2	822						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCACTGCTCCTCCACCGGCA	0.602000													33	84					0	0	0.002096	0	0
CHRM3	1131	broad.mit.edu	37	1	240071149	240071149	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:240071149G>A	ENST00000255380.4	+	5	1177	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	133					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATCATGAATCGATGGGCCTTA	0.473000													25	63					0	0	0.001061	0	0
LGSN	51557	broad.mit.edu	37	6	63990178	63990178	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:63990178G>A	ENST00000370657.4	-	4	1311	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	426					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CATCTAAGCCGGCAGCAACAG	0.453000													14	53					0	0	0.001855	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035433	242035433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:242035433C>T	ENST00000391980.2	-	4	1184	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	MTERFD2_ENST00000488567.1_5'UTR|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D188N|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	376										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcgtcgtcgtcctcatcctca	0.483000													5	68					0	0	0.001168	0	0
EAF2	55840	broad.mit.edu	37	3	121563320	121563320	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:121563320A>G	ENST00000273668.2	+	2	198	c.127A>G	c.(127-129)Att>Gtt	p.I43V	EAF2_ENST00000451944.2_Missense_Mutation_p.I43V	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	43	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ACCTGCTTCTATTGACACTTC	0.318000													12	85					0	0	0.001368	0	0
ASPG	374569	broad.mit.edu	37	14	104570801	104570801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:104570801C>T	ENST00000551177.1	+	8	1006	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASPG_ENST00000546892.2_Missense_Mutation_p.T305I|ASPG_ENST00000455920.2_Missense_Mutation_p.T305I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	305	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGCTGTGACCACAGACTAT	0.672000													8	43					0	0	0.003080	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330023	88330023	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr13:88330023C>A	ENST00000325089.6	+	2	2599	c.2380C>A	c.(2380-2382)Cag>Aag	p.Q794K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q553K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	794						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCACCTgcagcagcagcagca	0.657000													13	18					9.31168e-06	1.67975e-05	0.001855	1	0
AMY2A	279	broad.mit.edu	37	1	104160645	104160645	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:104160645G>T	ENST00000414303.2	+	2	302	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	80					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ATACCAACCAGTTAGCTATAA	0.353000													54	76					2.27459e-33	4.69198e-33	0.003610	1	0
SPPL3	121665	broad.mit.edu	37	12	121221519	121221519	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr12:121221519G>C	ENST00000353487.2	-	5	850	c.347C>G	c.(346-348)cCg>cGg	p.P116R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	117						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGCACATCGGGAGGAGAAG	0.323000													15	13					0	0	0.006122	0	0
SPHK2	56848	broad.mit.edu	37	19	49129107	49129107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr19:49129107G>A	ENST00000443164.1	+	1	890	c.185G>A	c.(184-186)gGg>gAg	p.G62E	SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000601712.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	445	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCTGCCATGGGGTCCTGAAT	0.647000													3	15					0	0	0.004672	0	0
HTR1E	3354	broad.mit.edu	37	6	87725635	87725635	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:87725635T>A	ENST00000305344.4	+	2	1286	c.583T>A	c.(583-585)Ttg>Atg	p.L195M	HTR1E_ENST00000369584.1_Missense_Mutation_p.L195M	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	195					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.P194fs*20(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTATATCCCCTTGACTTTGAT	0.507000													9	34					0	0	0.004482	0	0
OR2B11	127623	broad.mit.edu	37	1	247614634	247614634	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:247614634G>A	ENST00000318749.6	-	1	674	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGAAGGATGAGAGCCAGGG	0.582000													7	50					0	0	0.003080	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947962	21947962	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:21947962T>G	ENST00000406877.3	-	4	746	c.467A>C	c.(466-468)aAa>aCa	p.K156T	CDCA7L_ENST00000356195.5_Missense_Mutation_p.K122T|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.K110T	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	156					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTATCTGGTTTGTTGGCCAG	0.423000													4	59					0	0	0.001168	0	0
MCF2L	23263	broad.mit.edu	37	13	113678963	113678963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr13:113678963C>T	ENST00000397030.1	+	3	305	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	MCF2L_ENST00000423482.2_Missense_Mutation_p.R55W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61W|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R55W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCAGGTGGGCGGGGGCAGGA	0.612000													7	77					0	0	0.003080	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253869	81253869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:81253869C>T	ENST00000599697.1	-	1	106	c.107G>A	c.(106-108)aGa>aAa	p.R36K	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	36	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAGCATCTCTGAAGGCCAC	0.562000													15	70					0	0	0.003163	0	0
SLC47A2	146802	broad.mit.edu	37	17	19610064	19610064	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:19610064G>A	ENST00000350657.5	-	9	912	c.738C>T	c.(736-738)agC>agT	p.S246S	SLC47A2_ENST00000325411.5_Silent_p.S282S|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	282						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCAGGCACTGGCTGGACCAAC	0.612000													19	53					0	0	0.001216	0	0
HECW1	23072	broad.mit.edu	37	7	43590145	43590145	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:43590145C>T	ENST00000395891.1	+	27	4955	c.4350C>T	c.(4348-4350)cgC>cgT	p.R1450R	HECW1_ENST00000453890.1_Silent_p.R1416R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1450	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGTGGAGCGCGGCGTGGTAC	0.627000													8	6					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:7578419C>A	ENST00000420246.2	-	5	643	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E171*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACAACCTCCGTCATGTGC	0.662000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	26					2.48551e-13	4.84463e-13	0.004990	1	0
MYO3A	53904	broad.mit.edu	37	10	26243891	26243891	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:26243891T>A	ENST00000265944.5	+	4	423	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	MYO3A_ENST00000376301.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000376302.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000543632.1_Missense_Mutation_p.F86Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	86	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGGATATACTTTAAGAAGGAT	0.373000													6	82					0	0	0.001168	0	0
TIGD4	201798	broad.mit.edu	37	4	153692050	153692050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr4:153692050C>T	ENST00000304337.2	-	2	927	c.107G>A	c.(106-108)gGc>gAc	p.G36D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	36	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TTTTTTCTTGCCACTTTCCAC	0.363000													5	62					0	0	0.000602	0	0
EPB41L3	23136	broad.mit.edu	37	18	5394794	5394794	+	Splice_Site	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr18:5394794T>A	ENST00000341928.2	-	22	3494		c.e22-2		EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCAGCGCCTATCCCCGGGA	0.473000													62	64					0	0	0.003610	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291439	5291439	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr18:5291439C>G	ENST00000357006.4	-	4	1106	c.768G>C	c.(766-768)tgG>tgC	p.W256C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.W256C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CGGCTGTTGTCCAGCCTGGTG	0.493000													33	115					0	0	0.002836	0	0
ACHE	43	broad.mit.edu	37	7	100491265	100491265	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr7:100491265C>G	ENST00000302913.4	-	2	727	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ACHE_ENST00000412389.1_Missense_Mutation_p.E197Q|ACHE_ENST00000411582.1_Missense_Mutation_p.E197Q|ACHE_ENST00000241069.5_Missense_Mutation_p.E197Q|ACHE_ENST00000428317.1_Missense_Mutation_p.E197Q|ACHE_ENST00000419336.2_Missense_Mutation_p.E197Q	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	197					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCCGGGGCCTCTCGGCTCCCC	0.652000													20	86					0	0	0.001523	0	0
TROAP	10024	broad.mit.edu	37	12	49722756	49722756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr12:49722756A>G	ENST00000551245.1	+	9	1049	c.938A>G	c.(937-939)cAg>cGg	p.Q313R	TROAP_ENST00000547923.1_Missense_Mutation_p.Q21R|TROAP_ENST00000257909.3_Missense_Mutation_p.Q313R			Q12815	TROAP_HUMAN	trophinin associated protein	313					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCTGTGGCCCAGCCCTTGCCT	0.592000													29	57					0	0	0.001271	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900082	112900082	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:112900082C>G	ENST00000374530.3	+	8	2438	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C	AKAP2_ENST00000374525.1_Missense_Mutation_p.S611C|AKAP2_ENST00000555236.1_Missense_Mutation_p.S753C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S753C|AKAP2_ENST00000510514.5_Missense_Mutation_p.S753C|AKAP2_ENST00000259318.7_Missense_Mutation_p.S522C|AKAP2_ENST00000434623.2_Missense_Mutation_p.S611C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		522							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCTGATTTTTCTCTGCCCCAG	0.507000													6	101					0	0	0.003080	0	0
CDH11	1009	broad.mit.edu	37	16	64984742	64984742	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:64984742C>A	ENST00000394156.3	-	12	2275	c.1822G>T	c.(1822-1824)Gcc>Tcc	p.A608S	CDH11_ENST00000268603.4_Missense_Mutation_p.A608S|CDH11_ENST00000566827.1_Missense_Mutation_p.A482S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	608	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGAATGTAGGCCTCTGCGTTG	0.637000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	26					4.7546e-09	9.00048e-09	0.004007	1	0
HERC2	8924	broad.mit.edu	37	15	28386588	28386588	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:28386588G>T	ENST00000261609.7	-	78	12113	c.12005C>A	c.(12004-12006)gCt>gAt	p.A4002D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4002					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCCCATCAGCCGTCACAGC	0.517000													30	21					8.88839e-20	1.77768e-19	0.002096	1	0
TXNRD1	7296	broad.mit.edu	37	12	104720144	104720144	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr12:104720144G>C	ENST00000526691.1	+	10	1490	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	TXNRD1_ENST00000525566.1_Missense_Mutation_p.R443T|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R293T|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R443T|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R408T|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R343T|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R337T|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R392T|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R255T|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R293T|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R293T|TXNRD1_ENST00000529546.1_Missense_Mutation_p.R255T|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R362T|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R337T|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R345T	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	443					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GCAATAGGAAGAGATGCTTGC	0.289000													2	1					0	0	0.004672	0	0
HBA2	3040	broad.mit.edu	37	16	223537	223537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr16:223537C>T	ENST00000251595.6	+	3	433	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	HBA2_ENST00000397806.1_Missense_Mutation_p.H91Y	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	123			H -> Q (in Westmead).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	CCCTGCGGTGCACGCCTCCCT	0.662000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	23					0	0	0.001984	0	0
AREL1	9870	broad.mit.edu	37	14	75140809	75140809	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr14:75140809G>T	ENST00000356357.4	-	9	1601	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		CCTTCACTGAGAATTGCTGGA	0.403000													25	25					9.39395e-14	1.84667e-13	0.001061	1	0
ACTN2	88	broad.mit.edu	37	1	236911018	236911018	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:236911018T>C	ENST00000366578.4	+	13	1624	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	ACTN2_ENST00000542672.1_Silent_p.I486I|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	486					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCAGAAAATTTGTGACCAGT	0.408000													3	29					0	0	0.000248	0	0
KTI12	112970	broad.mit.edu	37	1	52498549	52498549	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:52498549C>A	ENST00000371614.1	-	1	939	c.885G>T	c.(883-885)ggG>ggT	p.G295G	TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	295							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGAGCAAGTCCCCGGGGACAG	0.597000													58	45					2.12129e-23	4.33685e-23	0.003610	1	0
SLC28A1	9154	broad.mit.edu	37	15	85487997	85487997	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:85487997C>T	ENST00000394573.1	+	18	1975	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.Y591Y|SLC28A1_ENST00000286749.3_Silent_p.Y591Y|SLC28A1_ENST00000538177.1_Silent_p.Y425Y	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	591					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGATCCTCTACATGCCCAGGG	0.597000													49	42					0	0	0.003610	0	0
HTR6	3362	broad.mit.edu	37	1	20005114	20005126	+	Frame_Shift_Del	DEL	ACGAAGCACAGCA	ACGAAGCACAGCA	-	rs143893286	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:20005114_20005126delACGAAGCACAGCA	ENST00000289753.1	+	2	1236_1248	c.769_781delACGAAGCACAGCA	c.(769-783)ggfs	p.TKHSR257fs		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	257					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCGTCTAGCCACGAAGCACAGCAGGAAGGCCCT	0.615													12	33	---	---	---	---					
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)agfs	p.K626fs	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458													7	300	---	---	---	---					
LOC101928553	101928553	broad.mit.edu	37	2	149629673	149629673	+	RNA	DEL	C	C	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:149629673delC	ENST00000601658.1	-	0	676																											TCTGGCCCTGCCCCCCCCCAA	0.438													2	4	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137889026	137889034	+	Splice_Site	DEL	CAAAATGAC	CAAAATGAC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:137889026_137889034delCAAAATGAC	ENST00000260803.4	-	4	557_565	c.403_splice	c.e4-1	p.GHFE135_splice	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	135						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GGGGGGCACTCAAAATGACCTTAGATTGA	0.316													9	103	---	---	---	---					
SLC27A6	28965	broad.mit.edu	37	5	128359396	128359397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:128359396_128359397insA	ENST00000262462.4	+	6	2258_2259	c.1248_1249insA	c.(1246-1251)gtaaaafs	p.VK416fs	SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.VK416fs|SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.VK416fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	416					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTATTCATGTGAAAAAAGGTAA	0.381													20	36	---	---	---	---					
SLC16A10	117247	broad.mit.edu	37	6	111498539	111498558	+	Frame_Shift_Del	DEL	ATTGTCACTGCTGGCAGCAG	ATTGTCACTGCTGGCAGCAG	-	rs116051634	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:111498539_111498558delATTGTCACTGCTGGCAGCAG	ENST00000368851.5	+	3	788_807	c.613_632delATTGTCACTGCTGGCAGCAG	c.(613-633)tfs	p.IVTAGSS205fs	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	205					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGTGAATGGCATTGTCACTGCTGGCAGCAGTGTCTTCACA	0.482													7	64	---	---	---	---					
ECT2L	345930	broad.mit.edu	37	6	139167765	139167769	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:139167765_139167769delCTCTC	ENST00000423192.1	+	7	1015_1019	c.854_858delCTCTC	c.(853-858)gfs	p.AL285fs	ECT2L_ENST00000367682.2_Frame_Shift_Del_p.AL285fs|ECT2L_ENST00000541398.1_Frame_Shift_Del_p.AL216fs			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	285					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCATATGCTCTCCGGCCACACT	0.376			"""N, Splice, Mis"""		ETP ALL								10	181	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18541359	18541372	+	Frame_Shift_Del	DEL	AGAATCCTCCCGGG	AGAATCCTCCCGGG	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:18541359_18541372delAGAATCCTCCCGGG	ENST00000428502.2	-	1	237_250	c.71_84delCCCGGGAGGATTCT	c.(70-84)tfs	p.SREDS24fs	PSD3_ENST00000440756.2_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000327040.8_Intron|PSD3_ENST00000523619.1_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	0					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCCGCCGGATAGAATCCTCCCGGGAGTATTTCAC	0.472													10	136	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17127720	17127720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:17127720delC	ENST00000377833.4	-	16	2051	c.1986delG	c.(1984-1986)ggfs	p.G662fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	662	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGAACTTCCCAAGAAGGG	0.458													23	46	---	---	---	---					
EGR2	1959	broad.mit.edu	37	10	64573002	64573003	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:64573002_64573003delGC	ENST00000242480.3	-	2	1720_1721	c.1395_1396delGC	c.(1393-1398)cctcfs	p.PL465fs	EGR2_ENST00000439032.1_Frame_Shift_Del_p.PL465fs|EGR2_ENST00000411732.1_Frame_Shift_Del_p.PL415fs	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	465					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGGGGCGAGCGGCCCTCCGC	0.653													7	119	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71727303	71727306	+	Splice_Site	DEL	CCAG	CCAG	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:71727303_71727306delCCAG	ENST00000393695.3	-	15	1574_1577	c.1242_splice	c.e15-1	p.LE415_splice	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Splice_Site_p.LE415_splice|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	415					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						TTCAAGGTTTCCAGCTGGTGGTAT	0.510			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	80	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62165605	62165612	+	Splice_Site	DEL	CCACCTAT	CCACCTAT	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:62165605_62165612delCCACCTAT	ENST00000261517.5	-	78	10488_10491	c.10414_splice	c.e78-1	p.3472_splice	VPS13C_ENST00000395896.4_Splice_Site_p.3472_splice|VPS13C_ENST00000395898.3_Splice_Site_p.3429_splice|VPS13C_ENST00000249837.3_Splice_Site_p.3429_splice	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3472					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGCTGCaccacctatcaaagacaag	0.375													12	172	---	---	---	---					
GP1BA	2811	broad.mit.edu	37	17	4837757	4837763	+	Frame_Shift_Del	DEL	GGGCCTC	GGGCCTC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:4837757_4837763delGGGCCTC	ENST00000329125.5	+	2	1933_1939	c.1858_1864delGGGCCTC	c.(1858-1866)tafs	p.GPL620fs		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	620										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGGCCGTGTGGGGCCTCTAGTGGCAGG	0.623											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	139	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													3	4	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													5	8	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	RNA	DEL	CAC	CAC	-	rs142037179		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458																											caccatccatcaccaacagaaac	0.443													5	6	---	---	---	---					
HTR6	3362	broad.mit.edu	37	1	20005114	20005126	+	Frame_Shift_Del	DEL	ACGAAGCACAGCA	ACGAAGCACAGCA	-	rs143893286	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr1:20005114_20005126delACGAAGCACAGCA	ENST00000289753.1	+	2	1236_1248	c.769_781delACGAAGCACAGCA	c.(769-783)ggfs	p.TKHSR257fs		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	257					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCGTCTAGCCACGAAGCACAGCAGGAAGGCCCT	0.615													12	33	---	---	---	---					
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)agfs	p.K626fs	NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458													7	300	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137889026	137889034	+	Splice_Site	DEL	CAAAATGAC	CAAAATGAC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr3:137889026_137889034delCAAAATGAC	ENST00000260803.4	-	4	557_565	c.403_splice	c.e4-1	p.GHFE135_splice	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	135						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GGGGGGCACTCAAAATGACCTTAGATTGA	0.316													9	103	---	---	---	---					
SLC27A6	28965	broad.mit.edu	37	5	128359396	128359397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr5:128359396_128359397insA	ENST00000262462.4	+	6	2258_2259	c.1248_1249insA	c.(1246-1251)gtaaaafs	p.VK416fs	SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.VK416fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.VK416fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	416					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTATTCATGTGAAAAAAGGTAA	0.381													20	36	---	---	---	---					
SLC16A10	117247	broad.mit.edu	37	6	111498539	111498558	+	Frame_Shift_Del	DEL	ATTGTCACTGCTGGCAGCAG	ATTGTCACTGCTGGCAGCAG	-	rs116051634	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:111498539_111498558delATTGTCACTGCTGGCAGCAG	ENST00000368851.5	+	3	788_807	c.613_632delATTGTCACTGCTGGCAGCAG	c.(613-633)tfs	p.IVTAGSS205fs	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	205					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGTGAATGGCATTGTCACTGCTGGCAGCAGTGTCTTCACA	0.482													7	64	---	---	---	---					
ECT2L	345930	broad.mit.edu	37	6	139167765	139167769	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:139167765_139167769delCTCTC	ENST00000423192.1	+	7	1015_1019	c.854_858delCTCTC	c.(853-858)gfs	p.AL285fs	ECT2L_ENST00000367682.2_Frame_Shift_Del_p.AL285fs|ECT2L_ENST00000541398.1_Frame_Shift_Del_p.AL216fs			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	285					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCATATGCTCTCCGGCCACACT	0.376			"""N, Splice, Mis"""		ETP ALL								10	181	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17127720	17127720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:17127720delC	ENST00000377833.4	-	16	2051	c.1986delG	c.(1984-1986)ggfs	p.G662fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	662	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGAACTTCCCAAGAAGGG	0.458													23	46	---	---	---	---					
EGR2	1959	broad.mit.edu	37	10	64573002	64573003	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr10:64573002_64573003delGC	ENST00000242480.3	-	2	1720_1721	c.1395_1396delGC	c.(1393-1398)cctcfs	p.PL465fs	EGR2_ENST00000439032.1_Frame_Shift_Del_p.PL465fs|EGR2_ENST00000411732.1_Frame_Shift_Del_p.PL415fs	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	465					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGGGGCGAGCGGCCCTCCGC	0.653													7	119	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71727303	71727306	+	Splice_Site	DEL	CCAG	CCAG	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr11:71727303_71727306delCCAG	ENST00000393695.3	-	15	1574_1577	c.1242_splice	c.e15-1	p.LE415_splice	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Splice_Site_p.LE415_splice	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	415					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						TTCAAGGTTTCCAGCTGGTGGTAT	0.510			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	80	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62165605	62165612	+	Splice_Site	DEL	CCACCTAT	CCACCTAT	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr15:62165605_62165612delCCACCTAT	ENST00000261517.5	-	78	10488_10491	c.10414_splice	c.e78-1	p.3472_splice	VPS13C_ENST00000249837.3_Splice_Site_p.3429_splice|VPS13C_ENST00000395898.3_Splice_Site_p.3429_splice|VPS13C_ENST00000395896.4_Splice_Site_p.3472_splice	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3472					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGCTGCaccacctatcaaagacaag	0.375													12	172	---	---	---	---					
GP1BA	2811	broad.mit.edu	37	17	4837757	4837763	+	Frame_Shift_Del	DEL	GGGCCTC	GGGCCTC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:4837757_4837763delGGGCCTC	ENST00000329125.5	+	2	1933_1939	c.1858_1864delGGGCCTC	c.(1858-1866)tafs	p.GPL620fs		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	620										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGGCCGTGTGGGGCCTCTAGTGGCAGG	0.623											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	139	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													3	4	---	---	---	---					
