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
ENO1	2023	broad.mit.edu	37	1	8923006	8923006	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:8923006T>C	ENST00000234590.4	-	11	1296		c.e11-2			NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)						gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTGATCTAGGAGAAAAG	0.532											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29	---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	rs121909133		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:16378219C>T	ENST00000375679.4	+	14	1423	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb									p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTATCGGGCGCCTCTTTGG	0.617													9	260	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169953739	169953739	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:169953739T>C	ENST00000367765.1	-	12	2758	c.1257A>G	c.(1255-1257)gtA>gtG	p.V419V	KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	459					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGATAAGCTGTACATTTCTTT	0.328													8	58	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120932465	120932465	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:120932465A>G	ENST00000443902.2	+	24	2195	c.2053A>G	c.(2053-2055)Act>Gct	p.T685A	AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000263713.5_Silent_p.L728L|EPB41L5_ENST00000452780.1_Silent_p.L727L	NM_001184937.1	NP_001171866.1	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	0						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAAGTGTTTACTGACCACTG	0.512													27	157	---	---	---	---
IQCF3	401067	broad.mit.edu	37	3	51864455	51864455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:51864455A>T	ENST00000456080.1	+	8	1268	c.103A>T	c.(103-105)Aag>Tag	p.K35*	IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	35										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAAAGGGTGAAGGCAGCTGG	0.567													15	43	---	---	---	---
RYBP	23429	broad.mit.edu	37	3	72428400	72428400	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:72428400A>T	ENST00000477973.2	-	2	600		c.e2+1			NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CCAGAAACTTACTTGGTTTTC	0.328													28	99	---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156192555	156192555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:156192555G>T	ENST00000302490.8	+	8	1421	c.550G>T	c.(550-552)Gag>Tag	p.E184*	KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Intron	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	202						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTGCAGCTCGAGTATGTGGA	0.433													14	128	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84370065	84370065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:84370065A>T	ENST00000295488.3	-	3	1224	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	354	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AATATATTAAATTTTTTCTTT	0.338								Other identified genes with known or suspected DNA repair function					3	31	---	---	---	---
AGA	175	broad.mit.edu	37	4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:178360790T>C	ENST00000264595.2	-	3	461	c.334A>G	c.(334-336)Att>Gtt	p.I112V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	112					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	p.I112V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCCACACCAATAGCATTTTTA	0.368													38	271	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242917	141242917	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr5:141242917C>T	ENST00000287008.3	-	3	3126	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000394536.3_Silent_p.V993V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	993					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTCCTGTACCACCTGGTGCT	0.637													3	24	---	---	---	---
USP45	85015	broad.mit.edu	37	6	99955361	99955361	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:99955361T>C	ENST00000327681.6	-	4	852	c.320A>G	c.(319-321)aAg>aGg	p.K107R	USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000329966.6_Missense_Mutation_p.K107R|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	107					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGGAACTCTTAAAGTGCTT	0.333													3	70	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40085626	40085626	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:40085626T>C	ENST00000181839.4	+	6	3148		c.e6+2		CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAATAATAGGTATGGGTATGA	0.373													31	101	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87645021	87645021	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr8:87645021A>C	ENST00000320005.5	-	11	1326	c.1279T>G	c.(1279-1281)Ttt>Gtt	p.F427V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	427					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGAAAAAAAATTCAAGAGT	0.358													4	24	---	---	---	---
AAED1	195827	broad.mit.edu	37	9	99404081	99404081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr9:99404081T>C	ENST00000375234.3	-	6	640	c.641A>G	c.(640-642)cAt>cGt	p.H214R		NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	214							antioxidant activity|oxidoreductase activity										AAAGTTCACATGCTGAACTCC	0.403													16	93	---	---	---	---
RPP38	10557	broad.mit.edu	37	10	15145358	15145358	+	Silent	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:15145358G>A	ENST00000378197.4	+	3	559	c.45G>A	c.(43-45)aaG>aaA	p.K15K	RPP38_ENST00000378202.5_Silent_p.K15K|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	15					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CTCTCCGTAAGACGAGACCTC	0.498													13	74	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702748	27702748	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:27702748C>T	ENST00000438700.3	-	1	549	c.432G>A	c.(430-432)gcG>gcA	p.A144A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	144					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATCAAGGGCGCCAGCAGGA	0.667													12	78	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:81058166C>T	ENST00000334512.5	+	15	2067	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	499	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCAGCCTCCCAGGCCGGT	0.602													41	257	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20676275	20676275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:20676275G>A	ENST00000525748.1	+	16	2528	c.2255G>A	c.(2254-2256)tGc>tAc	p.C752Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	752					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAGTTGGTGTGCTCGCCACAG	0.557													4	112	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48266787	48266787	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:48266787C>A	ENST00000302329.3	+	1	180	c.132C>A	c.(130-132)agC>agA	p.S44R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATGACCAGCAGAAGCCTTG	0.502													14	117	---	---	---	---
PPP6R3	55291	broad.mit.edu	37	11	68315610	68315610	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:68315610G>T	ENST00000393799.2	+	5	757	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	164					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCTATCATGGATTTGTTGCT	0.428													4	114	---	---	---	---
KCTD14	65987	broad.mit.edu	37	11	77728307	77728307	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:77728307C>G	ENST00000353172.5	-	2	144	c.100G>C	c.(100-102)Gtt>Ctt	p.V34L	NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	34	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGCTCCACAACAGTAGACATC	0.502													8	46	---	---	---	---
TRIM29	23650	broad.mit.edu	37	11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:120008138G>A	ENST00000341846.5	-	1	1023	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	201					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCAGGTGGGGCTTGAGATG	0.647													7	35	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52200821	52200821	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:52200821T>G	ENST00000354534.6	+	27	5729	c.5551T>G	c.(5551-5553)Ttc>Gtc	p.F1851V	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTTTTGCCTTCACCAAGCG	0.557													26	117	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65514270	65514270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:65514270T>C	ENST00000286574.4	-	2	589	c.215A>G	c.(214-216)aAa>aGa	p.K72R		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	72	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.K72I(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTGTTGTGCTTTTCTGAAATC	0.378			T	HMGA2	pleomorphic salivary gland adenoma								5	109	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67700301	67700301	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:67700301T>C	ENST00000545606.1	+	10	3290	c.2853T>C	c.(2851-2853)gtT>gtC	p.V951V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	951					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAATGTTGTTGCTGAATGTC	0.423													12	75	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25255780	25255780	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:25255780G>T	ENST00000218548.6	+	2	423	c.90G>T	c.(88-90)aaG>aaT	p.K30N	ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	30					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCAAGGAGAAGTATAGGGGTC	0.473													9	67	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48934221	48934221	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:48934221T>C	ENST00000267163.4	+	7	814	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	226					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTTGACTATTTTATTAAACT	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			19	91	---	---	---	---
GPC6	10082	broad.mit.edu	37	13	94482577	94482577	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:94482577T>C	ENST00000377047.4	+	3	1105	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	164						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCTCAATGACTTTTGGGCTCG	0.468													4	68	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr14:38061231A>G	ENST00000250448.2	-	2	819	c.758T>C	c.(757-759)aTg>aCg	p.M253T	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687													4	28	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43815432	43815432	+	Silent	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr15:43815432A>G	ENST00000382031.1	+	5	2506	c.2475A>G	c.(2473-2475)gaA>gaG	p.E825E	MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	587						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAAGAAGAACATGTGATGA	0.537													6	22	---	---	---	---
PRR25	388199	broad.mit.edu	37	16	857600	857600	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:857600A>C	ENST00000301698.1	+	2	597	c.597A>C	c.(595-597)ttA>ttC	p.L199F		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	199										large_intestine(1)|lung(1)|skin(1)	3						CCCTGCATTTAGAGAAGGGGG	0.701													5	52	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65005959	65005959	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:65005959G>T	ENST00000394156.3	-	10	1852	c.1399C>A	c.(1399-1401)Cat>Aat	p.H467N	CDH11_ENST00000268603.4_Missense_Mutation_p.H467N|CDH11_ENST00000566827.1_Missense_Mutation_p.H341N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	467	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTTCCTGATGCCGATTGTCT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	47	---	---	---	---
DPEP3	64180	broad.mit.edu	37	16	68010634	68010634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:68010634C>T	ENST00000268793.4	-	8	1511	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	355					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCACCAATCCCGATGAACTCA	0.552													7	46	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr17:47696424G>T	ENST00000393331.3	-	7	869	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			15	135	---	---	---	---
CDC37	11140	broad.mit.edu	37	19	10506785	10506785	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:10506785C>G	ENST00000222005.2	-	2	250	c.197G>C	c.(196-198)aGg>aCg	p.R66T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	66					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTTCAGTTTCCTCTGGCACTC	0.677													27	122	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36333346	36333346	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:36333346T>G	ENST00000378910.5	-	18	2440	c.2441A>C	c.(2440-2442)tAc>tCc	p.Y814S	NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	814	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATGCACTGGTAAGCGCCAGC	0.582													19	103	---	---	---	---
ANGPT4	51378	broad.mit.edu	37	20	861826	861826	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:861826C>T	ENST00000381922.3	-	5	1041	c.939G>A	c.(937-939)acG>acA	p.T313T	ANGPT4_ENST00000546022.1_Silent_p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	313	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCCTGGGCTTCGTTGCATTGG	0.597													9	32	---	---	---	---
CCDC101	112869	broad.mit.edu	37	16	28597027	28597027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:28597027delA	ENST00000317058.3	+	4	397	c.210delA	c.(208-210)gcafs	p.A70fs		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	70					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						AGGCCGATGCAGAGGCTGAGT	0.607													21	93	---	---	---	---
