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
PLEKHN1	84069	broad.mit.edu	37	1	909247	909247	+	Missense_Mutation	SNP	C	C	T	rs72631892	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:909247C>T	uc001ace.3	+	12	1660	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	PLEKHN1_uc001acd.3_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.3_Missense_Mutation_p.T455M	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	542										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGTGGACCCACGCCCTCGAGC	0.682												
TAS1R2	80834	broad.mit.edu	37	1	19168299	19168299	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:19168299C>T	uc001bba.1	-	4	1516	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	505					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACAGGCTTCTTCTTTTGCC	0.562												
RIMS3	9783	broad.mit.edu	37	1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	rs149583022		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:41107474C>T	uc001cfu.1	-	2	589	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_uc001cfv.1_Missense_Mutation_p.A42T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	42					neurotransmitter transport	cell junction|synapse		p.A42T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657												
PTPRF	5792	broad.mit.edu	37	1	44069550	44069550	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:44069550G>A	uc001cjr.3	+	15	3067	c.2727G>A	c.(2725-2727)agG>agA	p.R909R	PTPRF_uc001cjs.3_Silent_p.R900R|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Silent_p.R469R|PTPRF_uc001cjv.3_Silent_p.R369R|PTPRF_uc001cjw.3_Silent_p.R135R	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	909	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAGATCAGGACCCCCGAGG	0.627												
WLS	79971	broad.mit.edu	37	1	68603590	68603590	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:68603590G>A	uc001dee.3	-	10	1685	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.G463G|WLS_uc001deg.2_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	463					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGTGACGCCGCCCCATTTCC	0.443												
ATP1A1	476	broad.mit.edu	37	1	116943788	116943788	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:116943788C>T	uc001ege.3	+	19	3094	c.2755C>T	c.(2755-2757)Cac>Tac	p.H919Y	ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.2_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.2_Missense_Mutation_p.H888Y|ATP1A1OS_uc009whb.2_Intron|ATP1A1OS_uc001egg.3_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	919					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTTCACCTGCCACACAGCCTT	0.532												
TBX15	6913	broad.mit.edu	37	1	119441665	119441665	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:119441665A>G	uc001ehl.1	-	6	1007	c.692T>C	c.(691-693)aTg>aCg	p.M231T	TBX15_uc009whj.1_Missense_Mutation_p.M22T	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	337						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCTTCTGCATGGTGGTGAA	0.527												
SV2A	9900	broad.mit.edu	37	1	149885276	149885276	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:149885276G>A	uc001etg.3	-	1	608	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_uc001eth.2_Silent_p.D39D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	39	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(4)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542												
FLG	2312	broad.mit.edu	37	1	152283084	152283084	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:152283084G>A	uc001ezu.1	-	2	4314	c.4278C>T	c.(4276-4278)tcC>tcT	p.S1426S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1426	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGTGCGGACTCTTTGT	0.557									Ichthyosis			
USH2A	7399	broad.mit.edu	37	1	216371751	216371751	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:216371751C>A	uc001hku.1	-	17	4374	c.3987G>T	c.(3985-3987)ttG>ttT	p.L1329F	USH2A_uc001hkv.3_Missense_Mutation_p.L1329F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1329	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L1329*(1)		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)		TGTATGGCTCCAAGCCAGTGA	0.443										HNSCC(13;0.011)		
SLC18A3	6572	broad.mit.edu	37	10	50820049	50820049	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:50820049C>T	uc001jhw.3	+	0	1703	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	421					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.V420I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCAGCGTCTACGCCATCGCCG	0.622												
TMEM26	219623	broad.mit.edu	37	10	63212688	63212688	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:63212688G>A	uc001jlo.2	-	0	521	c.152C>T	c.(151-153)gCg>gTg	p.A51V	TMEM26_uc001jlq.3_Non-coding_Transcript|BC041470_uc001jlr.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	51						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGGTGAGCGCAGTCTCCAG	0.642												
ZNF365	22891	broad.mit.edu	37	10	64159484	64159484	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:64159484G>A	uc001jmc.2	+						ZNF365_uc001jly.4_Missense_Mutation_p.R402H|ZNF365_uc001jmb.4_Intron|ZNF365_uc001jlz.4_Missense_Mutation_p.R387H|ZNF365_uc001jma.4_Non-coding_Transcript	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTTTGGCCGCAAAGGCAAC	0.537												
VCL	7414	broad.mit.edu	37	10	75849002	75849002	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:75849002T>C	uc001jwd.3	+	8	1165	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	VCL_uc009xrr.3_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.3_Silent_p.S357S|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	357	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGCAGGTATCTCAGGGTCTGG	0.488												
PTEN	5728	broad.mit.edu	37	10	89653808	89653808	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:89653808G>A	uc001kfb.3	+	1	1138	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	36	Phosphatase tensin-type.		G -> E (in glioma).|G -> R (in endometrial hyperplasia).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.G36R(8)|p.G36E(4)|p.G36*(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.M35R(1)|p.G36fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
TNKS2	80351	broad.mit.edu	37	10	93619322	93619322	+	Silent	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:93619322C>A	uc001khp.3	+	24	3495	c.3198C>A	c.(3196-3198)tcC>tcA	p.S1066S		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	1066	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.S1066F(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAACTCTTCCAAAAGCAATC	0.398												
HPSE2	60495	broad.mit.edu	37	10	100374687	100374687	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:100374687C>T	uc001kpn.2	-	8	1367	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	HPSE2_uc009xwc.2_Missense_Mutation_p.V432M|HPSE2_uc001kpo.2_Missense_Mutation_p.V374M|HPSE2_uc009xwd.2_Missense_Mutation_p.V320M	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	432					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTCTGGTCCACGAGGTGATTG	0.418												
DNMBP	23268	broad.mit.edu	37	10	101716779	101716779	+	Missense_Mutation	SNP	C	C	T	rs138795130		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:101716779C>T	uc001kqj.2	-	3	544	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	151	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CATTAGGGCCCGGGCTTGTCC	0.557												
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:4842972C>T	uc010qyn.2	+	0	357	c.357C>T	c.(355-357)caC>caT	p.H119H		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468												
UEVLD	55293	broad.mit.edu	37	11	18587922	18587922	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:18587922C>G	uc001mot.3	-	4	545	c.465G>C	c.(463-465)ttG>ttC	p.L155F	UEVLD_uc001mou.3_Missense_Mutation_p.L155F|UEVLD_uc010rde.2_Missense_Mutation_p.L25F|UEVLD_uc010rdf.2_Missense_Mutation_p.L133F|UEVLD_uc010rdg.2_Missense_Mutation_p.L25F|UEVLD_uc001mov.3_Missense_Mutation_p.L133F|UEVLD_uc010rdh.2_Missense_Mutation_p.L155F	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	155					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATAGGCTAGCAAGTCTACCT	0.368												
OR10AG1	282770	broad.mit.edu	37	11	55735344	55735344	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735344G>A	uc010rit.2	-	0	596	c.596C>T	c.(595-597)aCg>aTg	p.T199M		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATGGCACCGTGATAAACAC	0.408												
OR10AG1	282770	broad.mit.edu	37	11	55735807	55735807	+	Missense_Mutation	SNP	C	C	T	rs139897319	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735807C>T	uc010rit.2	-	0	133	c.133G>A	c.(133-135)Gct>Act	p.A45T		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTCTGGAGAGCGGGGTGAATT	0.348												
SLC22A10	387775	broad.mit.edu	37	11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	rs112720090		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:63071595G>A	uc009yor.3	+	7	1509	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	434						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGACCCTGCGTGTGGCTTTG	0.453												
NAALADL1	10004	broad.mit.edu	37	11	64820765	64820765	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:64820765C>T	uc001ocn.3	-	7	1139	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	375	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCACAGCCCCGTGCACCCAG	0.672												
PCNXL3	399909	broad.mit.edu	37	11	65402835	65402835	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:65402835G>A	uc001oey.2	+	30	5100	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1700						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632												
GDF3	9573	broad.mit.edu	37	12	7842931	7842931	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:7842931C>T	uc001qte.3	-	1	674	c.638G>A	c.(637-639)gGg>gAg	p.G213E		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	213			G -> R (in dbSNP:rs12819884).		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.G213R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAAATTCACCCCTGAGTCTCT	0.493												
NELL2	4753	broad.mit.edu	37	12	45173691	45173691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:45173691C>T	uc010skz.1	-	4	725	c.600G>A	c.(598-600)tgG>tgA	p.W200*	NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001rog.2_Nonsense_Mutation_p.W150*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150*	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	150	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGAGCTTGTGCCACTTGTCAT	0.438												
ARID2	196528	broad.mit.edu	37	12	46245949	46245949	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:46245949A>T	uc001ros.1	+	14	4043	c.4043A>T	c.(4042-4044)gAt>gTt	p.D1348V	ARID2_uc001ror.3_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1348					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACATGCAAGATATCAAAAGT	0.358			"""N, S, F"""		hepatocellular carcinoma							
KRT78	196374	broad.mit.edu	37	12	53242331	53242331	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:53242331C>T	uc001sbc.1	-	1	448	c.384_splice	c.e1+1	p.K128_splice		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	128	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGACCCTCACCTTGTCAATGA	0.537												
SLC24A6	80024	broad.mit.edu	37	12	113770568	113770568	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:113770568T>A	uc001tvc.3	-	1	326	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	39					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGCTGGAAACTGGGGGCTAAT	0.557												
TBX5	6910	broad.mit.edu	37	12	114832695	114832695	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:114832695T>A	uc001tvo.3	-	5	1009	c.514A>T	c.(514-516)Att>Ttt	p.I172F	TBX5_uc001tvp.3_Missense_Mutation_p.I172F|TBX5_uc001tvq.3_Missense_Mutation_p.I122F|TBX5_uc010syv.2_Missense_Mutation_p.I172F	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	172					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATTTAGAATAATCTAAAAA	0.368												
TAOK3	51347	broad.mit.edu	37	12	118639103	118639103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:118639103delC	uc001twx.3	-	11	1280	c.985delG	c.(985-987)gaafs	p.E329fs	TAOK3_uc001tww.3_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.4_Frame_Shift_Del_p.E329fs	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	329					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACCTACTTCCTCATCCTCC	0.368												
UCHL3	7347	broad.mit.edu	37	13	76134909	76134909	+	Silent	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr13:76134909A>T	uc001vjq.3	+	2	105	c.75A>T	c.(73-75)ctA>ctT	p.L25L		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	25					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AATTAGGTCTACATCCTAACT	0.333												
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:19553823G>A	uc001vuz.1	+	0	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	136								p.R136H(2)|p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577												
OXA1L	5018	broad.mit.edu	37	14	23239044	23239044	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:23239044G>A	uc001wgn.2	+	3	664	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	OXA1L_uc001wgp.2_Missense_Mutation_p.G146S	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	162					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CATCGTGACGGGCCAGCGAGA	0.488												
PCK2	5106	broad.mit.edu	37	14	24567814	24567814	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:24567814T>C	uc001wlt.3	+	3	723	c.591T>C	c.(589-591)ccT>ccC	p.P197P	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Silent_p.P197P|PCK2_uc010tnw.2_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.2_Silent_p.P63P|PCK2_uc001wlu.4_Silent_p.P63P	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGGGACACCTGTGCTTCAGG	0.617												
FOXG1	2290	broad.mit.edu	37	14	29237322	29237322	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:29237322C>T	uc001wqe.3	+	0	1036	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	279					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.T279N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCTCCACCACCTCGCGGGCCA	0.701												
TDRD9	122402	broad.mit.edu	37	14	104488645	104488645	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:104488645G>A	uc001yom.4	+	23	2614	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	TDRD9_uc001yon.4_Missense_Mutation_p.V600I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	862					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGCATGAACGTCTCAAAGCT	0.448												
PLD4	122618	broad.mit.edu	37	14	105397140	105397140	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105397140C>T	uc010tyl.1	+	6	958	c.800C>T	c.(799-801)aCc>aTc	p.T267I	PLD4_uc001ypu.1_Missense_Mutation_p.T260I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	260					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CTGGAGAAGACCTTCCAGACC	0.572												
GPR132	29933	broad.mit.edu	37	14	105518239	105518239	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105518239C>T	uc001yqd.3	-	3	1134	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.V70I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	79					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCAGGTAGACGGCCAGCACG	0.657												
PLA2G4F	255189	broad.mit.edu	37	15	42442026	42442026	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:42442026C>T	uc001zoz.3	-	10	1036	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R102H	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	315	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAAGCCAAGGCGTAGGTCTAG	0.632												
TLN2	83660	broad.mit.edu	37	15	63055766	63055766	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:63055766A>C	uc002alb.4	+	36	4966	c.4966A>C	c.(4966-4968)Aag>Cag	p.K1656Q	TLN2_uc002alc.4_Missense_Mutation_p.K49Q|TLN2_uc002ald.3_Missense_Mutation_p.K49Q	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1656					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCCAGGGACAAGGCCCCTGG	0.617												
C15orf39	56905	broad.mit.edu	37	15	75503308	75503308	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:75503308G>A	uc002azp.4	+	2	3315	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	C15orf39_uc002azq.4_Missense_Mutation_p.G999S|C15orf39_uc002azr.4_3'UTR	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	999										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGCCCACCTGGCCCCACACT	0.662												
C15orf27	123591	broad.mit.edu	37	15	76496348	76496348	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:76496348C>T	uc002bbq.3	+	10	1443	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S	C15orf27_uc010bkp.3_Missense_Mutation_p.P246S|C15orf27_uc002bbr.3_Missense_Mutation_p.P246S|C15orf27_uc002bbs.3_Missense_Mutation_p.P108S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	430						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCGCCGCTGCCATCCCAGCA	0.701												
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:102515335C>G	uc002cdi.3	+	8	1979	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652												
DECR2	26063	broad.mit.edu	37	16	460737	460737	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:460737G>A	uc002chb.3	+	5	615	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	DECR2_uc002chc.3_Missense_Mutation_p.R86Q|DECR2_uc002chd.3_Missense_Mutation_p.R86Q|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	170						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTGGGGAACCGGGGGCAGGCG	0.701												
IGFALS	3483	broad.mit.edu	37	16	1841525	1841525	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:1841525G>A	uc010uvn.2	-	1	1089	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	IGFALS_uc002cmy.3_Silent_p.S298S|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	298					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGGCGTTGTGGGACAGCCGCA	0.687												
PRSS22	64063	broad.mit.edu	37	16	2903295	2903295	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:2903295G>A	uc002cry.1	-	5	819	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	251	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCAGGCGCCGTCCACCTGGC	0.711												
DNAH3	55567	broad.mit.edu	37	16	21045351	21045351	+	Silent	SNP	G	G	A	rs143127393	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:21045351G>A	uc010vbe.2	-	35	5142	c.5142C>T	c.(5140-5142)ggC>ggT	p.G1714G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1714	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCTTGCCGCCCATGGGGT	0.498												
ITGAD	3681	broad.mit.edu	37	16	31427865	31427865	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:31427865C>T	uc010cap.1	+	19	2449	c.2400C>T	c.(2398-2400)aaC>aaT	p.N800N	ITGAD_uc002ebv.1_Silent_p.N799N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	799					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGAGCTCAACGTGATTGTGA	0.617												
ZFHX3	463	broad.mit.edu	37	16	72993903	72993903	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:72993903C>A	uc002fck.3	-	1	815	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	48					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCAAGGGCCCGTGGCTCTCG	0.667												
USP22	23326	broad.mit.edu	37	17	20924447	20924447	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:20924447G>T	uc002gym.4	-	2	601	c.397C>A	c.(397-399)Cga>Aga	p.R133R	USP22_uc002gyn.4_Silent_p.R121R|USP22_uc002gyl.4_Silent_p.R28R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	133					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAAGCTTTTCGCTGCTCCTCC	0.478												
KIF2B	84643	broad.mit.edu	37	17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:51901070C>T	uc002iua.2	+	0	832	c.676C>T	c.(676-678)Cga>Tga	p.R226*	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	226	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAACCAGCGAGAGACAAC	0.557												
MARCH10	162333	broad.mit.edu	37	17	60879073	60879073	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:60879073C>A	uc010dds.3	-	1	309	c.24G>T	c.(22-24)agG>agT	p.R8S	MARCH10_uc010ddr.3_Missense_Mutation_p.R8S|MARCH10_uc002jag.4_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	8							ligase activity|zinc ion binding	p.R8R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGAACTTCTGCCTGTCCCTTG	0.453												
LRRC37A3	374819	broad.mit.edu	37	17	62856062	62856062	+	Missense_Mutation	SNP	A	A	C	rs139735390	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:62856062A>C	uc002jey.2	-	10	4818	c.4202T>G	c.(4201-4203)gTt>gGt	p.V1401G	LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1401						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCATAAAAACATTTTCTTC	0.368												
HELZ	9931	broad.mit.edu	37	17	65119252	65119252	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:65119252A>G	uc010wqk.2	-	25	3654	c.3467T>C	c.(3466-3468)aTt>aCt	p.I1156T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.I1155T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGATTGCCAATAAGTACAGA	0.388												
KIF19	124602	broad.mit.edu	37	17	72345437	72345437	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:72345437C>T	uc002jkm.4	+	9	1300	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	388					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R388Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGACTGGGCGGGGCCAGGC	0.662												
CBX2	84733	broad.mit.edu	37	17	77758656	77758656	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:77758656G>A	uc002jxc.3	+	4	1472	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	472					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCGACCCCGACTCCGCCTC	0.662												
FOXK2	3607	broad.mit.edu	37	17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:80521333G>A	uc002kfn.3	+	1	694	c.523G>A	c.(523-525)Gta>Ata	p.V175I	FOXK2_uc002kfm.1_Missense_Mutation_p.V175I|FOXK2_uc010diu.3_Missense_Mutation_p.V175I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	175					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582												
CCDC102B	79839	broad.mit.edu	37	18	66504203	66504204	+	In_Frame_Ins	INS	-	-	TAT			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr18:66504203_66504204insTAT	uc002lkk.2	+	3	426_427	c.203_204insTAT	c.(202-204)gat>gaTATt	p.69_70insI	CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	69										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AACAAATGGGATATTTGTGAAG	0.505												
LRRC8E	80131	broad.mit.edu	37	19	7963647	7963647	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:7963647G>T	uc002mir.3	+	2	341	c.240G>T	c.(238-240)caG>caT	p.Q80H		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	80						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCCTGAGCAGATTGGGGCCC	0.522												
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433												
TNPO2	30000	broad.mit.edu	37	19	12817567	12817567	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:12817567G>T	uc002mup.3	-	11	2051	c.1589C>A	c.(1588-1590)cCg>cAg	p.P530Q	TNPO2_uc002muq.3_Missense_Mutation_p.P438Q|TNPO2_uc002muo.3_Missense_Mutation_p.P438Q|TNPO2_uc002mur.3_Missense_Mutation_p.P438Q|SNORD41_uc002mut.1_5'Flank	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	438					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATCAGGTGCGGGATCAGCTC	0.632												
ZNF676	163223	broad.mit.edu	37	19	22363820	22363820	+	Silent	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:22363820A>T	uc002nqs.1	-	2	1017	c.699T>A	c.(697-699)gcT>gcA	p.A233A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCGATTAAAAGCTTTGCCAC	0.358												
RYR1	6261	broad.mit.edu	37	19	38983254	38983254	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:38983254G>A	uc002oit.3	+	37	6382	c.6252G>A	c.(6250-6252)cgG>cgA	p.R2084R	RYR1_uc002oiu.3_Silent_p.R2084R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2084	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2084Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAGGAGCGGTCAGCAGAGG	0.627												
TIMM50	92609	broad.mit.edu	37	19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:39972604delA	uc002olu.1	+	1	632	c.499delA	c.(499-501)aaafs	p.K167fs	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	64	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607												
ZNF284	342909	broad.mit.edu	37	19	44589943	44589943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:44589943G>A	uc002oyg.1	+	4	528	c.312G>A	c.(310-312)tgG>tgA	p.W104*	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGCAAATCTGGGAACAAACTG	0.468												
ZNF528	84436	broad.mit.edu	37	19	52918709	52918709	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:52918709A>C	uc002pzh.3	+	6	1030	c.604A>C	c.(604-606)Act>Cct	p.T202P	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCAAGCCTTACTAACCAAGT	0.398												
NLRP12	91662	broad.mit.edu	37	19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:54314485C>T	uc002qcj.4	-	2	648	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R143H|NLRP12_uc002qci.4_Missense_Mutation_p.R143H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R143H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567												
ZNF416	55659	broad.mit.edu	37	19	58084494	58084494	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:58084494G>A	uc002qpf.3	-	3	949	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACTCTTTGCAGCTGAACAAGG	0.458												
E2F6	1876	broad.mit.edu	37	2	11587770	11587770	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:11587770G>A	uc002rbh.3	-	5	1074	c.782C>T	c.(781-783)cCa>cTa	p.P261L	E2F6_uc002rbg.3_Missense_Mutation_p.P186L|E2F6_uc002rbi.3_Missense_Mutation_p.P186L|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_Missense_Mutation_p.P186L|E2F6_uc002rbf.3_Missense_Mutation_p.P229L	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	261	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGGGCCTTCTGGATGAGTGCT	0.398												
MAP4K3	8491	broad.mit.edu	37	2	39509673	39509673	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:39509673G>A	uc002rro.3	-	21	1701	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	MAP4K3_uc002rrp.3_Missense_Mutation_p.P516L|MAP4K3_uc010yns.2_Missense_Mutation_p.P90L	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	537					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.L536I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGTGTTGGAGGAAGACCATT	0.323												
PPM1B	5495	broad.mit.edu	37	2	44428594	44428594	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:44428594A>G	uc002rtt.3	+	1	684	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	PPM1B_uc002rts.3_Missense_Mutation_p.R86G|PPM1B_uc002rtu.3_Missense_Mutation_p.R86G|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.R86G|PPM1B_uc002rtx.3_Missense_Mutation_p.R86G	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	86					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.R86G(2)|p.F85F(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGAAGACTTTAGGGCAGCTGG	0.383												
POU3F3	5455	broad.mit.edu	37	2	105473303	105473303	+	Silent	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:105473303C>G	uc010ywg.2	+	0	1335	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L		NM_006236	NP_006227	P20264	PO3F3_HUMAN	Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA.	445					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCAGCTCGAGAAGGAGG	0.642												
MERTK	10461	broad.mit.edu	37	2	112786347	112786347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:112786347G>A	uc002thk.1	+	18	3028	c.2906G>A	c.(2905-2907)tGg>tAg	p.W969*	MERTK_uc002thl.1_Nonsense_Mutation_p.W793*	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	969					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGGGTCTCCTGGTCCCATTCG	0.527												
MCM6	4175	broad.mit.edu	37	2	136627932	136627932	+	Splice_Site	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:136627932C>G	uc002tuw.3	-	3	331	c.255_splice	c.e3-1	p.R85_splice		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	85					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AGGGTAAACTCTGAAAAACAA	0.428												
ACVR1C	130399	broad.mit.edu	37	2	158412763	158412763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:158412763G>A	uc002tzk.4	-	2	629	c.386C>T	c.(385-387)gCg>gTg	p.A129V	ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.A79V	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	129					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	p.A129A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGTCAGCATCGCAGCTATGGA	0.478												
FAP	2191	broad.mit.edu	37	2	163070563	163070563	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:163070563A>T	uc002ucd.3	-	10	1095	c.887T>A	c.(886-888)cTc>cAc	p.L296H	FAP_uc010zct.2_Missense_Mutation_p.L271H|FAP_uc010fpe.1_Missense_Mutation_p.L263H	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	296					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACCCACGTGAGCCAACTGAA	0.368												
LRP2	4036	broad.mit.edu	37	2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:170115593G>A	uc002ues.3	-	16	2668	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_uc010zdf.1_Missense_Mutation_p.R682C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	819					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R819C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTACTGTGCGTCTCGTTTTA	0.398												
COL3A1	1281	broad.mit.edu	37	2	189867049	189867049	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:189867049C>G	uc002uqj.1	+	34	2534	c.2417C>G	c.(2416-2418)cCa>cGa	p.P806R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	806	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACTGGCCCTCCAGGACCTGCT	0.438												
MARCH4	57574	broad.mit.edu	37	2	217234856	217234856	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:217234856C>T	uc002vgb.3	-	0	1895	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	43						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAGCATGCGGCAGCGGCA	0.652												
DIS3L2	129563	broad.mit.edu	37	2	233194556	233194556	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:233194556G>C	uc010fxz.3	+	14	2049	c.1773G>C	c.(1771-1773)atG>atC	p.M591I	DIS3L2_uc002vsm.4_Intron|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	591							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)		TGGCCAACATGGCAGTGGCCC	0.657												
KCNB1	3745	broad.mit.edu	37	20	48098748	48098748	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr20:48098748G>T	uc002xur.1	-	0	436	c.270C>A	c.(268-270)ggC>ggA	p.G90G	KCNB1_uc002xus.1_Silent_p.G90G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	90					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.G90G(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGTGAAGGCGCCCGGGTGGC	0.607												
TRPM2	7226	broad.mit.edu	37	21	45786765	45786765	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr21:45786765G>A	uc010gpt.1	+	3	652	c.552G>A	c.(550-552)ccG>ccA	p.P184P	TRPM2_uc002zet.1_Silent_p.P184P|TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	184						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACATGAAGCCGCGGCTGAAGA	0.637												
LZTR1	8216	broad.mit.edu	37	22	21343151	21343151	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr22:21343151G>A	uc002zto.3	+	5	686	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	LZTR1_uc002ztn.3_Missense_Mutation_p.G154S|LZTR1_uc011ahy.2_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	195					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G195C(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTATGACGGCAACGCCAG	0.637												
ITIH4	3700	broad.mit.edu	37	3	52857940	52857940	+	Missense_Mutation	SNP	C	C	T	rs141154056	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:52857940C>T	uc011bem.2	-	9	1280	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S	ITIH4_uc011bel.2_Missense_Mutation_p.G148S|ITIH4_uc003dfy.3_Missense_Mutation_p.G282S|ITIH4_uc003dfz.3_Missense_Mutation_p.G418S|ITIH4_uc011ben.2_Missense_Mutation_p.G418S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	418	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACGTCGAAACCGAAGCCCAGG	0.612												
IL17RB	55540	broad.mit.edu	37	3	53891662	53891662	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:53891662C>T	uc003dha.3	+	7	731	c.692C>T	c.(691-693)aCg>aTg	p.T231M		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	231					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AAGAAACAAACGCGAGCTTCA	0.517												
PTPRG	5793	broad.mit.edu	37	3	61975388	61975388	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:61975388C>T	uc003dlb.3	+	2	999	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PTPRG_uc003dlc.3_Missense_Mutation_p.R94C	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	94	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R94C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAGTATGCGCGTGTTGGGGA	0.488												
C3orf30	152405	broad.mit.edu	37	3	118865302	118865302	+	Missense_Mutation	SNP	G	G	A	rs138666071		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:118865302G>A	uc003ecb.1	+	0	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R89H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	89								p.G88C(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGGCTGGCCGCAGAGCATCC	0.502												
OTOL1	131149	broad.mit.edu	37	3	161221595	161221595	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:161221595G>C	uc011bpb.2	+	3	1299	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	433	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCGTCATCTTGAAATTAAGTG	0.468												
TP63	8626	broad.mit.edu	37	3	189604307	189604307	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:189604307C>T	uc003fry.2	+	10	1563	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc021xir.1_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	492					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCCCTCACTCCTACAACCAT	0.498										HNSCC(45;0.13)		
FGFRL1	53834	broad.mit.edu	37	4	1019042	1019042	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:1019042C>T	uc003gce.3	+	6	1583	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	FGFRL1_uc003gcf.3_Silent_p.L474L|FGFRL1_uc003gcg.3_Silent_p.L474L|FGFRL1_uc010ibo.3_Silent_p.L474L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	474					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCCCAAACTCTacacagaca	0.597												
PCDH7	5099	broad.mit.edu	37	4	30725505	30725505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:30725505delG	uc003gsk.1	+	0	3469	c.2461delG	c.(2461-2463)gtgfs	p.V821fs	PCDH7_uc011bxx.2_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnd.1_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnc.1_Frame_Shift_Del_p.V821fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	821	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTGGTGCAAGTGAATGACAG	0.483												
CNGA1	1259	broad.mit.edu	37	4	47945299	47945299	+	Silent	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:47945299T>A	uc003gxu.3	-	6	696	c.555A>T	c.(553-555)tcA>tcT	p.S185S	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.S116S|CNGA1_uc003gxv.1_Silent_p.S116S	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	116					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTTATCATCTGACTTGCTGA	0.318												
UGT2B28	54490	broad.mit.edu	37	4	70160416	70160416	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:70160416G>T	uc003hej.3	+	5	1481	c.1479G>T	c.(1477-1479)gtG>gtT	p.V493V	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	493					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTTTGGATGTGATTGGGTTTC	0.463												
NAAA	27163	broad.mit.edu	37	4	76836138	76836138	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:76836138G>A	uc003hjb.3	-	10	1063	c.999_splice	c.e10-1	p.N333_splice	NAAA_uc003hja.3_Intron	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	333					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAATTGTGAAGCTGAAAATTA	0.408												
SHROOM3	57619	broad.mit.edu	37	4	77661454	77661454	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:77661454C>A	uc011cbx.2	+	4	3081	c.2128C>A	c.(2128-2130)Cct>Act	p.P710T	SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.3_Missense_Mutation_p.P488T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	710					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAAGCCGCTCCTGACCTCGG	0.667												
SEC24B	10427	broad.mit.edu	37	4	110437770	110437770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:110437770C>A	uc003hzk.3	+	10	2155	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	SEC24B_uc003hzl.3_Nonsense_Mutation_p.C665*|SEC24B_uc011cfp.2_Nonsense_Mutation_p.C730*|SEC24B_uc011cfq.2_Nonsense_Mutation_p.C699*|SEC24B_uc011cfr.2_Nonsense_Mutation_p.C664*	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	700					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318												
LYSMD3	116068	broad.mit.edu	37	5	89821101	89821101	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:89821101T>C	uc003kjr.3	-	1	154	c.6A>G	c.(4-6)gcA>gcG	p.A2A	LYSMD3_uc010jaz.2_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	2					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GATGCCTCCCTGCCATAATGT	0.403												
KIAA0825	285600	broad.mit.edu	37	5	93859726	93859726	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:93859726T>G	uc011cuk.2	-	3	466	c.209A>C	c.(208-210)gAc>gCc	p.D70A	KIAA0825_uc003kkp.2_Missense_Mutation_p.D70A	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTCAAAGCAGTCAGTTGTTGT	0.318												
SLC27A6	28965	broad.mit.edu	37	5	128359401	128359401	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:128359401A>G	uc003kuy.3	+	6	1649	c.1253A>G	c.(1252-1254)aAa>aGa	p.K418R	SLC27A6_uc003kuz.3_Missense_Mutation_p.K418R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	418					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)		CATGTGAAAAAAGGTAAGACT	0.398												
DOCK2	1794	broad.mit.edu	37	5	169097547	169097547	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:169097547G>A	uc003maf.3	+	4	249	c.169_splice	c.e4-1	p.G57_splice	DOCK2_uc011der.2_Splice_Site	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	57	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttCCAACAGGGCATTTTTCCT	0.348												
GFOD1	85411	broad.mit.edu	37	6	13470477	13470477	+	Silent	SNP	C	C	T	rs150464914		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:13470477C>T	uc003nat.2	-						GFOD1_uc003nas.2_Intron|GFOD1_uc003nau.3_Non-coding_Transcript|GFOD1_uc003nav.3_Non-coding_Transcript|GFOD1_uc021ylu.1_3'UTR	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.							extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGGCAATTGCCGGCTCATGAA	0.572												
PHF1	5252	broad.mit.edu	37	6	33382871	33382871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:33382871delC	uc003oeh.3	+	11	1425	c.1189delC	c.(1189-1191)cccfs	p.P397fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.3_Frame_Shift_Del_p.P197fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	397					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCGCAATCAGCCCGAGCCCCA	0.677											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF76	7629	broad.mit.edu	37	6	35261624	35261624	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:35261624G>A	uc003oki.1	+	11	1631	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	ZNF76_uc003okj.1_Intron	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	476					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGTCCTGATGCCGACCTGGC	0.627												
DNAH8	1769	broad.mit.edu	37	6	38998047	38998047	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:38998047C>G	uc021yzh.1	+	92	14112	c.14003C>G	c.(14002-14004)cCt>cGt	p.P4668R	DNAH8_uc003ooe.2_Missense_Mutation_p.P4451R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGTGTGTCCTATTTACAAG	0.507												
COL10A1	1300	broad.mit.edu	37	6	116442546	116442546	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:116442546G>T	uc003pwm.3	-	2	829	c.733C>A	c.(733-735)Cca>Aca	p.P245T	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	245	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGGCCAATTGGTCCCATTTCT	0.597												
CRHR2	1395	broad.mit.edu	37	7	30695576	30695576	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:30695576C>T	uc003tbn.3	-	8	1129	c.884G>A	c.(883-885)cGc>cAc	p.R295H	CRHR2_uc010kvw.2_Missense_Mutation_p.R295H|CRHR2_uc010kvx.2_Missense_Mutation_p.R294H|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.R131H|CRHR2_uc003tbo.3_Missense_Mutation_p.R281H|CRHR2_uc003tbp.3_Missense_Mutation_p.R322H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	295					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTGGACGCGCGTAACTTTGT	0.552												
GTF2IRD1	9569	broad.mit.edu	37	7	74004217	74004217	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:74004217C>T	uc003uaq.3	+	22	2796	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	GTF2IRD1_uc010lbq.3_Silent_p.I818I|GTF2IRD1_uc003uap.3_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	801						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAAGGTGATCCTGCGGGAGC	0.592												
CTTNBP2	83992	broad.mit.edu	37	7	117400762	117400762	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:117400762C>A	uc003vjf.3	-	9	2991	c.2899G>T	c.(2899-2901)Gct>Tct	p.A967S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	967										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTTTAAGAGCATCTGTTAGA	0.284												
FLNC	2318	broad.mit.edu	37	7	128489530	128489530	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:128489530C>G	uc003vnz.4	+	29	5306	c.5097C>G	c.(5095-5097)gaC>gaG	p.D1699E	FLNC_uc003voa.4_Missense_Mutation_p.D1699E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1699					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612												
MEST	4232	broad.mit.edu	37	7	130140656	130140656	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:130140656C>G	uc003vqg.3	+	8	930	c.674C>G	c.(673-675)aCt>aGt	p.T225S	MEST_uc003vqc.3_Missense_Mutation_p.T216S|MEST_uc003vqd.3_Intron|MEST_uc022alp.1_Intron|MEST_uc003vqf.3_Missense_Mutation_p.T216S|MEST_uc011kph.2_Missense_Mutation_p.T211S	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	225					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GGGCCGTATACTCGGCCCTCT	0.498												
BPGM	669	broad.mit.edu	37	7	134346605	134346605	+	Nonsense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:134346605A>T	uc003vrv.3	+	2	887	c.346A>T	c.(346-348)Aga>Tga	p.R116*	BPGM_uc003vrw.3_Nonsense_Mutation_p.R116*	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	116					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GAGGCTCTGGAGAAGAAGCTA	0.493												
CNTNAP2	26047	broad.mit.edu	37	7	147336290	147336290	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:147336290G>A	uc003weu.2	+	12	2506	c.1990G>A	c.(1990-1992)Gtt>Att	p.V664I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	664	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACACAGCTCGTTTACAGCGC	0.498										HNSCC(39;0.1)		
DPYSL2	1808	broad.mit.edu	37	8	26510765	26510765	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:26510765G>A	uc003xfb.2	+	12	1910	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	DPYSL2_uc003xfa.3_Silent_p.G598G|DPYSL2_uc011lah.2_Silent_p.G457G	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	493					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCTGAGAGGGGTTCCTCGTG	0.602												
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:48746799delT	uc003xqi.3	-	59	8164	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.R2703fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining				
FBXL6	26233	broad.mit.edu	37	8	145579316	145579316	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:145579316C>G	uc003zcb.3	-	8	1571	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.G226R|FBXL6_uc003zca.3_Missense_Mutation_p.G493R|FBXL6_uc010mfx.3_Missense_Mutation_p.G260R|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	499					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TAGAGCAGGCCCGGGCAGCTG	0.657												
IFT74	80173	broad.mit.edu	37	9	26984346	26984346	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:26984346G>C	uc010mja.3	+	4	524	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	IFT74_uc010mjb.3_Missense_Mutation_p.E133Q|IFT74_uc003zqf.4_Missense_Mutation_p.E133Q|IFT74_uc003zqg.4_Missense_Mutation_p.E133Q	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	133						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTGTCATATGAAAAGAGGTG	0.264												
GAPVD1	26130	broad.mit.edu	37	9	128069702	128069702	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:128069702C>A	uc004bpp.3	+	4	1287	c.1127C>A	c.(1126-1128)gCc>gAc	p.A376D	GAPVD1_uc004bpo.3_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwx.3_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.3_Missense_Mutation_p.A376D|GAPVD1_uc004bps.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	376					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCTGTGTTGCCGCTTTCCTT	0.408												
SLC2A6	11182	broad.mit.edu	37	9	136338317	136338317	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:136338317G>A	uc004cee.3	-	8	1373	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SLC2A6_uc004cef.3_Silent_p.P364P|SLC2A6_uc004ceg.3_Silent_p.P403P	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	426						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGGCACGCAGGGGCAGGACCT	0.672												
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:141070915C>T	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522												
SYTL5	94122	broad.mit.edu	37	X	37955451	37955451	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chrX:37955451C>T	uc004ddx.3	+	7	1382	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	SYTL5_uc004ddu.3_Silent_p.S342S|SYTL5_uc004ddv.3_Silent_p.S342S	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	342					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATACTGTAAGCATAAGAAGCA	0.413												
