Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CTSD	1509	broad.mit.edu	37	11	1776220	1776220	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:1776220C>A	ENST00000236671.2	-	6	875	c.743G>T	c.(742-744)gGt>gTt	p.G248V	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.V119L	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	248					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCTGTGCCACCCAGCATCAG	0.597000													44	59					8.86878e-18	9.54066e-18	1	1	0
TSGA10IP	254187	broad.mit.edu	37	11	65726678	65726678	+	RNA	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:65726678C>T	ENST00000608857.1	+	0	1440				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CCCGGCTCACCGTCACTCGGC	0.652000													9	6					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1012507	1012507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:1012507C>T	ENST00000356663.3	-	4	794	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	TMEM259_ENST00000333175.5_Missense_Mutation_p.A225T	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		TGGCGGGTGGCCTGCGACAGG	0.667000													7	8					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241992689	241992689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:241992689C>T	ENST00000310397.8	+	16	2203	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	SNED1_ENST00000342631.6_Missense_Mutation_p.R735C|SNED1_ENST00000405547.3_Missense_Mutation_p.R735C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.R735C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	735	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCCCCCAGCCGCATCCGGGT	0.687000													35	57					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101343089	101343089	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:101343089G>T	ENST00000370114.3	-	3	1812	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	EXTL2_ENST00000535414.1_Missense_Mutation_p.Q113K|EXTL2_ENST00000370113.3_Missense_Mutation_p.Q126K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	126					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGCTGTCTGTTGTTTGAAG	0.473000													56	49					3.76997e-23	4.18231e-23	1	1	0
LPIN2	9663	broad.mit.edu	37	18	2923857	2923857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:2923857G>A	ENST00000261596.4	-	16	2328	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	697	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAAGCATCCGACCTAAGAAG	0.468000													32	40					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146176	31146176	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:31146176A>C	ENST00000304166.4	+	16	1574	c.1285A>C	c.(1285-1287)Aag>Cag	p.K429Q	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.K485Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.K457Q|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.K408Q	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	429					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGTGGACTTCAAGCACCGACA	0.587000													17	72					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720875	89720875	+	Splice_Site	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr10:89720875G>A	ENST00000371953.3	+	8	2383	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	342	C2 tensin-type.		K -> N (in CD; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type).		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.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K342N(2)|p.G165_*404del(1)|p.D326_K342del(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)		CAAATTTTAAGGTCAGTTAAA	0.328000		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)			43	19					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62406923	62406923	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:62406923G>A	ENST00000346178.4	-	3	175	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Missense_Mutation_p.R54W|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000534422.1_5'UTR	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	54					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AGGCCTGGCCGTATGCTTCTC	0.547000													3	52					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55508845	55508845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:55508845C>T	ENST00000543010.1	+	12	3183	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	NLRP2_ENST00000537859.1_Missense_Mutation_p.R992W|NLRP2_ENST00000391721.4_Missense_Mutation_p.R990W|NLRP2_ENST00000263437.6_Missense_Mutation_p.R1011W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R992W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R991W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R990W|NLRP2_ENST00000448584.2_Missense_Mutation_p.R1014W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1014					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCACCCTCCGGACACTCAG	0.512000													44	65					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1												p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687000													5	144					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	51					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040545	103040545	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:103040545C>T	ENST00000264260.2	+	4	934	c.345C>T	c.(343-345)acC>acT	p.T115T	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	115					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACTTTTTGACCCCAGGGGTGA	0.373000													35	56					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587158	32587158	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32587158G>A	ENST00000400236.3	-	5	1673	c.468C>T	c.(466-468)gaC>gaT	p.D156D	RFPL2_ENST00000248980.4_Silent_p.D185D|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Silent_p.D246D|RFPL2_ENST00000248983.4_Silent_p.D156D	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	246							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTGTTCCCACGTCCACCTCCC	0.567000													44	73					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665007	6665007	+	Missense_Mutation	SNP	C	C	T	rs150171386	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:6665007C>T	ENST00000326176.9	-	5	926	c.545G>A	c.(544-546)cGt>cAt	p.R182H	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R218H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R182H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	218					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ATCCAGCACACGGACGACCAC	0.622000													27	55					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64193065	64193065	+	Silent	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:64193065G>T	ENST00000409558.4	-	6	646	c.492C>A	c.(490-492)tcC>tcA	p.S164S	VPS54_ENST00000272322.4_Silent_p.S176S|VPS54_ENST00000354504.3_Silent_p.S59S	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAAAGTTAAGGAATCATCCA	0.313000													37	26					1.30998e-17	1.38819e-17	1	1	0
POLRMT	5442	broad.mit.edu	37	19	621242	621242	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:621242T>A	ENST00000588649.2	-	10	2540	c.2456A>T	c.(2455-2457)gAc>gTc	p.D819V		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	819	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCCACGTCGCTGCCCAG	0.701000													8	12					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549411	58549411	+	Silent	SNP	C	C	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:58549411C>G	ENST00000282326.1	+	3	454	c.207C>G	c.(205-207)ccC>ccG	p.P69P	ZSCAN1_ENST00000391700.1_Silent_p.P69P|ZSCAN1_ENST00000601162.1_Silent_p.P69P	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	69	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTGAGGCCCGAGGCGCGCT	0.706000													9	21					0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43759313	43759313	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:43759313C>T	ENST00000458276.2	+	6	1047	c.924C>T	c.(922-924)atC>atT	p.I308I	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	308					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCACCAGCATCCAGTCCTTAC	0.453000													10	93					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373751	7373751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:7373751G>A	ENST00000502583.1	-	5	1865	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	CAGE1_ENST00000338150.4_Missense_Mutation_p.S434F|CAGE1_ENST00000512086.1_Missense_Mutation_p.S434F|CAGE1_ENST00000296742.7_Missense_Mutation_p.S298F|CAGE1_ENST00000379918.4_Missense_Mutation_p.S434F	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	434										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTGACTTACAGATTTATTTTT	0.343000													16	43					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140797577	140797577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:140797577G>A	ENST00000398594.2	+	1	151	c.151G>A	c.(151-153)Gct>Act	p.A51T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAACCTCGCTAAGGATCT	0.607000											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976426	8976426	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:8976426C>A	ENST00000397910.4	-	75	42605	c.42402G>T	c.(42400-42402)gaG>gaT	p.E14134D	MUC16_ENST00000380951.5_Missense_Mutation_p.E775D|MUC16_ENST00000596956.1_Intron	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14165	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCATCCTTCTCAGGCCTGG	0.612000													4	40					0.014758	0.014758	1	1	0
PTPN5	84867	broad.mit.edu	37	11	18765712	18765712	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:18765712G>A	ENST00000396170.1	-	4	1396	c.132C>T	c.(130-132)gaC>gaT	p.D44D	PTPN5_ENST00000396171.4_Silent_p.D44D|PTPN5_ENST00000358540.2_Silent_p.D44D|PTPN5_ENST00000396167.2_Silent_p.D44D|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Silent_p.D20D	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	44						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.D44E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTTCAGCCTCGTCCAGTGCCT	0.672000													60	75					0	0	1	0	0
NOXO1	124056	broad.mit.edu	37	16	2030145	2030145	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:2030145A>G	ENST00000354249.4	-	5	805	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.S151P|NOXO1_ENST00000397280.4_Missense_Mutation_p.S152P|NOXO1_ENST00000356120.4_Missense_Mutation_p.S147P	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	152					cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						GCAGCGCGAGAAAGAGGCTGC	0.667000													4	11					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22122275	22122275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:22122275G>A	ENST00000389398.5	+	8	745	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	217						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACCAATGCCGGGTCCCTCTG	0.552000													5	11					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	27					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109644574	109644574	+	Silent	SNP	A	A	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:109644574A>G	ENST00000338432.7	+	20	3092	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K	ACACB_ENST00000377848.3_Silent_p.K991K|ACACB_ENST00000377854.5_Silent_p.K991K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	991					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCGGAGAGAAACTGCACCAGG	0.522000													61	103					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985194	240985194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:240985194G>A	ENST00000319423.4	-	1	295	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTAGAGCTGCGTCATGCACCC	0.582000													23	28					0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724630	217724630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:217724630C>T	ENST00000236979.2	-	1	157	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCATCGCCCCGTTTCCTACT	0.557000													43	87					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559948	45559948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:45559948G>A	ENST00000347644.3	+	12	1218	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	385			E -> K.		nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TCCGGAAGTGGAGGAGTCCAA	0.552000													59	86					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92151417	92151417	+	Splice_Site	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:92151417T>C	ENST00000248633.4	-	2	367	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	PEX1_ENST00000438045.1_Splice_Site_p.Q91R|PEX1_ENST00000428214.1_Splice_Site_p.Q91R	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	91					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTGCTTACCTGTCCCCCATT	0.353000													56	244					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29259478	29259478	+	Silent	SNP	C	C	T	rs140272239	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:29259478C>T	ENST00000379558.4	+	18	2841	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.F775F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	830							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGAGTCCTTCGCCAAGATGA	0.498000													34	52					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88889098	88889098	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:88889098C>T	ENST00000268695.5	-	12	1351	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	GALNS_ENST00000542788.1_Silent_p.G346G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	421						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	AAACGTTCTGCCCAGGGCAGA	0.617000													3	33					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82532025	82532025	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:82532025G>A	ENST00000333891.9	-	9	13807	c.13470C>T	c.(13468-13470)taC>taT	p.Y4490Y	PCLO_ENST00000423517.2_Silent_p.Y4490Y	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGAAAGATGTAGTGCATAG	0.299000													38	116					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32614591	32614591	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32614591C>T	ENST00000266086.4	-	15	1901	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	630					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTCTCAGACGTGTCTGTGA	0.517000													41	63					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151780081	151780081	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:151780081A>T	ENST00000356728.6	-	10	1515	c.1361T>A	c.(1360-1362)cTg>cAg	p.L454Q	RORC_ENST00000318247.6_Missense_Mutation_p.L475Q|RORC_ENST00000392697.3_Missense_Mutation_p.L529Q|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	475	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGCTACACAGGCTCCGAAG	0.557000													3	65					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10436617	10436617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:10436617G>A	ENST00000377086.1	+	49	5625	c.5423G>A	c.(5422-5424)cGc>cAc	p.R1808H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1762H|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	1808					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCTTTCCCGCAGATGCCCG	0.527000													63	108					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171183	150171183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:150171183C>T	ENST00000307271.3	+	4	1340	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTGGGGAAACGCGGTGCTGG	0.557000													21	77					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533071	94533071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:94533071G>A	ENST00000433060.2	+	3	856	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	AMOTL1_ENST00000317829.8_Missense_Mutation_p.A189T|AMOTL1_ENST00000317837.9_Missense_Mutation_p.A239T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	239						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGTGAACCGTGCCAACAGTGG	0.627000													9	22					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4882886	4882886	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:4882886C>T	ENST00000321919.9	-	4	259	c.183G>A	c.(181-183)aaG>aaA	p.K61K	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Silent_p.K61K|GLYR1_ENST00000436648.5_Silent_p.K61K|GLYR1_ENST00000381983.3_Silent_p.K61K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	61	PWWP.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CATGATATGGCTTCAGCTGTT	0.418000													5	108					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893668	43893668	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:43893668G>T	ENST00000450892.2	-	24	4704	c.4627C>A	c.(4627-4629)Cta>Ata	p.L1543I	STRC_ENST00000541030.1_Missense_Mutation_p.L770I	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1543					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGCTCCTGTAGTTCCCGATCT	0.567000													39	63					2.95478e-19	3.22753e-19	1	1	0
HEY1	23462	broad.mit.edu	37	8	80677812	80677812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr8:80677812C>T	ENST00000337919.5	-	5	731	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Missense_Mutation_p.G86R|HEY1_ENST00000354724.3_Missense_Mutation_p.G176R	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	176					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAATGTGTCCGAGGCCCGCG	0.667000			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	41					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	C	T	rs141880038	by1000genomes	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:6785797C>T	ENST00000486256.1	+	0	1941					NR_002217.1																						AGAATGGCTTCGATTTTGTTA	0.398000													5	42					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331948	21331948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:21331948G>A	ENST00000256958.2	+	7	817	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	241			D -> N.		bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGATATGTAGATCTAAGTAA	0.338000													53	72					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187734	152187734	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:152187734C>A	ENST00000368801.2	-	3	6446	c.6371G>T	c.(6370-6372)gGg>gTg	p.G2124V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2124					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGACCCATGCTGACT	0.562000													50	651					2.6711e-34	3.01029e-34	1	1	0
VTA1	51534	broad.mit.edu	37	6	142519682	142519682	+	Silent	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:142519682T>C	ENST00000367630.4	+	6	685	c.627T>C	c.(625-627)taT>taC	p.Y209Y	VTA1_ENST00000452973.2_Silent_p.Y151Y|VTA1_ENST00000367621.1_Silent_p.Y151Y|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	209	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAGGCAACTATACTGGAATAC	0.473000													22	35					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120152022	120152022	+	Missense_Mutation	SNP	C	C	T	rs140614337		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:120152022C>T	ENST00000392521.2	-	33	4341	c.4286G>A	c.(4285-4287)cGc>cAc	p.R1429H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1387H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1387					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGATGCCTGGCGTCCAAAGTG	0.488000													25	30					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606096	31606096	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr20:31606096C>T	ENST00000170150.3	+	8	804	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	203						extracellular region	lipid binding										AGTCCCAGATCCGCTATTCCA	0.532000													11	57					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	65					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101201221	101201221	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:101201221C>T	ENST00000341267.4	+	5	1382	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	DLK1_ENST00000331224.6_Silent_p.D307D	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	380					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.D380D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGCCGGCGACGAGGAGATCT	0.547000													23	51					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005188	248005188	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:248005188T>C	ENST00000355784.2	-	1	66	c.11A>G	c.(10-12)cAa>cGa	p.Q4R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGTATTTTGGGGCTCCAT	0.458000													14	30					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324331	158324331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:158324331C>T	ENST00000368160.3	+	2	223	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.R75C|CD1E_ENST00000368163.3_Missense_Mutation_p.R75C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R75C|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R73C|CD1E_ENST00000368155.3_Missense_Mutation_p.R75C|CD1E_ENST00000368156.1_Missense_Mutation_p.R75C|CD1E_ENST00000368167.3_Missense_Mutation_p.R75C	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	75					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGCACCATCCGCTTTCTGAA	0.512000													20	38					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221783	55221783	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:55221783A>T	ENST00000275493.2	+	7	1004	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	EGFR_ENST00000442591.1_Missense_Mutation_p.Q276L|EGFR_ENST00000420316.2_Missense_Mutation_p.Q276L|EGFR_ENST00000344576.2_Missense_Mutation_p.Q276L|EGFR_ENST00000454757.2_Missense_Mutation_p.Q223L|EGFR_ENST00000455089.1_Missense_Mutation_p.Q231L|EGFR_ENST00000342916.3_Missense_Mutation_p.Q276L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	276					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCACGTACCAGATGGATGTG	0.587000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			2308	76					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													6	24					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81957132	81957132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:81957132C>T	ENST00000359376.3	+	22	2564	c.2350C>T	c.(2350-2352)Cga>Tga	p.R784*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	784	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAAAGCCAAGCGAAGCGATGA	0.592000													9	16					0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50229245	50229245	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:50229245C>T	ENST00000232461.3	+	1	201	c.87C>T	c.(85-87)acC>acT	p.T29T	GNAT1_ENST00000433068.1_Silent_p.T29T	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	29					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGCTCGAACCGTGAAGCTGC	0.622000													12	25					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667814	106667814	+	RNA	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:106667814A>T	ENST00000390606.2	-	0	179																											GCTGCACAGGAGAGTCTCAGG	0.572000													59	114					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19112440	19112440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:19112440C>T	ENST00000269214.5	-	11	3306	c.2369G>A	c.(2368-2370)tGc>tAc	p.C790Y		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	790					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTACCTTAGGCATTCAATCAT	0.393000													27	47					0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137781255	137781255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:137781255G>A	ENST00000378339.2	+	7	856	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	REEP2_ENST00000506158.1_Missense_Mutation_p.A182T|REEP2_ENST00000254901.5_Missense_Mutation_p.A220T	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	220						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCAAGAGGGCCAAACCCAT	0.597000													3	42					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603624	37603624	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:37603624C>T	ENST00000328544.3	-	2	752	c.219G>A	c.(217-219)acG>acA	p.T73T	SSTR3_ENST00000402501.1_Silent_p.T73T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	73					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.T73T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						AAGGGCTGGCCGTGTGCCGCA	0.642000													72	70					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888117	26888117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:26888117delC	ENST00000374168.2	+	17	1707	c.1553delC	c.(1552-1554)accfs	p.T518fs	RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.T426fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.T502fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.T527fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.T507fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.T426fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	518	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTCCTGCACACCATTGGCAAA	0.567													27	61	---	---	---	---					
ZC3H11A	9877	broad.mit.edu	37	1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418													9	2129	---	---	---	---					
SOX13	9580	broad.mit.edu	37	1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204085764_204085766delAGC	ENST00000367204.1	+	5	657_659	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	187	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576													12	2107	---	---	---	---					
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204135375_204135377delAGC	ENST00000367195.2	-	1	88_90	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000272190.8_In_Frame_Del_p.15_16LL>L			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													18	2105	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													3	5	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107955460	107955461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:107955460_107955461insC	ENST00000317357.5	+	6	2071_2072	c.1412_1413insC	c.(1411-1416)aaccccfs	p.NP471fs		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	471	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATGCCCGGGAACCCCCCAGGCC	0.733													2	4	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													7	14	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)cagdel	p.Q116del	FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	145	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr9:35906584_35906586delCCA	ENST00000354323.2	+	1	396_398	c.300_302delCCA	c.(298-303)ctccac>ctc	p.H105del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.660													5	11	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													4	6	---	---	---	---					
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggggag>ggg	p.E388del	PICK1_ENST00000356976.3_In_Frame_Del_p.E388del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	388	Poly-Glu.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635													7	43	---	---	---	---					
