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
FBLN7	129804	broad.mit.edu	37	2	112940404	112940404	+	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.chr2:112940404G>A	ENST00000331203.2	+	6	978	c.707G>A	c.(706-708)cGc>cAc	p.R236H	FBLN7_ENST00000409450.3_Missense_Mutation_p.R190H|FBLN7_ENST00000409903.1_Missense_Mutation_p.R236H|FBLN7_ENST00000409667.3_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	236	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGAGGGGCGCCCCCGGCTC	0.622000													4	99					0	0	1	0	0
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_598375.2	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	0.338000								Other identified genes with known or suspected DNA repair function					3	31					0	0	1	0	0
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	0.552000													7	46					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279150	279150	+	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.chr20:279150A>G	ENST00000382352.3	+	1	1414	c.923A>G	c.(922-924)gAg>gGg	p.E308G		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	308							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCCAGGGGGAGGGCGGGGTC	0.632000													3	111					0	0	1	0	0
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	0.582000													19	103					0	0	1	0	0
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	0.473000													9	67					0.38729	0.392823	1	1	0
MIR520F	0	broad.mit.edu	37	19	54185442	54185442	+	RNA	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.chr19:54185442G>A	ENST00000384824.1	+	0	30					NR_030186.1																						AAAGGGAAGCGCTTTCTGTGG	0.428000													12	75					0	0	1	0	0
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	0.378000			T	HMGA2	pleomorphic salivary gland adenoma								5	109					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427648	5427648	+	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.chr7:5427648G>A	ENST00000399537.4	-	5	2155	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	TNRC18_ENST00000430969.1_Missense_Mutation_p.R603C			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	603							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCAGGGCGCACGGCCACG	0.672000													3	9					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114240088	114240088	+	Splice_Site	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.chr13:114240088G>A	ENST00000375370.5	+	2	148		c.e2-1		TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site|TFDP1_ENST00000544902.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ttttttACCAGAAAAATCATT	0.333000										TSP Lung(29;0.18)			6	41					0	0	1	0	0
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_ENST00000392738.2_5'UTR|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R|USP45_ENST00000329966.5_Missense_Mutation_p.K107R|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000500704.2_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	0.333000													3	70					0	0	1	0	0
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	0.667000													12	78					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		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.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000													4	108					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97380889	97380889	+	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.chr10:97380889G>A	ENST00000371224.2	-	12	1503	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454C	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	456	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CGGGTGCGGCGCAAAACACGT	0.537000													13	67					0	0	1	0	0
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	ENST00000354534.5	+	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	1851					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	0.557000													26	117					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92139267	92139267	+	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.chr14:92139267G>A	ENST00000256343.3	-	13	1228	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	358					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAATGTTAGCACAGTTGGA	0.368000													4	135					0	0	1	0	0
PCDHB18	0	broad.mit.edu	37	5	140615983	140615983	+	RNA	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.chr5:140615983G>A	ENST00000526308.1	+	0	2046					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCGTGTGGGCGCACAATGGCG	0.701000													4	145					0	0	1	0	0
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	0.687000													4	28					0	0	1	0	0
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_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_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	0.448000										Prostate(2;0.17)			15	135					1.15919e-05	1.247e-05	1	1	0
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	0.368000													38	271					0	0	1	0	0
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	0.403000													16	93					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50607643	50607643	+	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.chr7:50607643G>A	ENST00000444124.2	-	3	485	c.285C>T	c.(283-285)tgC>tgT	p.C95C	DDC_ENST00000357936.5_Silent_p.C95C|DDC_ENST00000380984.4_Silent_p.C95C|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Intron|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.C95C	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	95	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAATGGCCCCGCACAGCATGT	0.657000													16	29					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329811	137329811	+	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.chr6:137329811G>A	ENST00000367748.1	-	4	902	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.H217Y|IL20RA_ENST00000541547.1_Missense_Mutation_p.H168Y			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	217	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GACTCCACGTGTACGCAGTAA	0.532000													4	118					0	0	1	0	0
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	0.468000													4	68					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728254	20728254	+	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.chr19:20728254C>G	ENST00000427401.4	-	4	849	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	252					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCACTATGAATTAT	0.403000													3	41					0	0	1	0	0
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_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V|KIFAP3_ENST00000367767.1_Silent_p.V415V	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	0.328000													8	58					0	0	1	0	0
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	KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|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	0.502000													8	46					0	0	1	0	0
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_ENST00000566827.1_Missense_Mutation_p.H341N|CDH11_ENST00000268603.4_Missense_Mutation_p.H467N			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	0.478000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	47					0.00307968	0.00326354	1	1	0
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	0.423000													12	75					0	0	1	0	0
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	0.617000													9	260					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	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.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	148					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55746142	55746142	+	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.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517000													4	70					0	0	1	0	0
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	0.373000													31	101					0	0	1	0	0
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	ENST00000477973.1	-	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	0.328000													28	99					0	0	1	0	0
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_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*	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	0.433000													14	128					4.7546e-09	5.27464e-09	1	1	0
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_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.V971V|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	0.637000													3	24					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49665572	49665572	+	Splice_Site	SNP	C	C	T	rs147611117		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.chr6:49665572C>T	ENST00000339139.4	-	8	752		c.e8+1			NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2							extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGTCTACTTACGCAGGACAAT	0.328000													22	138					0	0	1	0	0
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_ENST00000399453.1_Silent_p.E587E|MAP1A_ENST00000300231.5_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	0.537000													6	22					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465562	24465562	+	Missense_Mutation	SNP	T	T	C	rs41286068	by1000genomes	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.chr13:24465562T>C	ENST00000382137.3	-	3	936	c.868A>G	c.(868-870)Agc>Ggc	p.S290G	C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S290G	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	290	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGGACAATGCTGCCAGAGGCC	0.507000													4	73					0	0	1	0	0
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	0.647000													7	35					0	0	1	0	0
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	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.K15K|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	0.498000													13	74					0	0	1	0	0
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	0.677000													27	122					0	0	1	0	0
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	0.701000													5	52					0	0	1	0	0
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	0.532000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0
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_ENST00000452780.1_Silent_p.L727L|EPB41L5_ENST00000263713.5_Silent_p.L728L	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	0.512000													27	157					0	0	1	0	0
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	0.313000		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					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38233836	38233836	+	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.chr17:38233836G>A	ENST00000450525.2	+	4	688	c.197G>A	c.(196-198)cGc>cAc	p.R66H	THRA_ENST00000546243.1_Missense_Mutation_p.R66H|THRA_ENST00000584985.1_Missense_Mutation_p.R66H|THRA_ENST00000264637.4_Missense_Mutation_p.R66H|THRA_ENST00000394121.4_Missense_Mutation_p.R66H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	66					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TATCACTACCGCTGTATCACT	0.552000													20	154					0	0	1	0	0
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	0.358000													4	24					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167420049	167420049	+	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.chr5:167420049C>T	ENST00000519204.1	+	4	803	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	TENM2_ENST00000545108.1_Missense_Mutation_p.R350C|TENM2_ENST00000403607.2_Missense_Mutation_p.R183C|TENM2_ENST00000518659.1_Missense_Mutation_p.R350C|TENM2_ENST00000520394.1_Missense_Mutation_p.R159C					teneurin transmembrane protein 2																		GCCCCCGCCCCGCCTGCTGCC	0.587000													4	88					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196673406	196673406	+	Splice_Site	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.chr2:196673406C>T	ENST00000312428.6	-	53	10183	c.10083_splice	c.e53+1	p.L3361_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3361					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3361F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAAACATACCAAACTATCAT	0.318000													7	83					0	0	1	0	0
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	0.557000													4	112					0	0	1	0	0
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_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524904.1_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	0.428000													4	114					0.150653	0.15502	1	1	0
ZNF92	168374	broad.mit.edu	37	7	64864202	64864202	+	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.chr7:64864202C>T	ENST00000328747.7	+	4	1374	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	ZNF92_ENST00000431504.1_Missense_Mutation_p.T316M|ZNF92_ENST00000450302.2_Missense_Mutation_p.T323M|ZNF92_ENST00000357512.2_Missense_Mutation_p.T360M	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AGAATTCATACGGGAGAAAAA	0.373000													13	82					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693450	94693450	+	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.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTCTTAGCCGCACACTGTCA	0.493000													3	54					0	0	1	0	0
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	0.602000													41	257					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787164	135787164	+	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.chr6:135787164C>A	ENST00000367800.4	-	5	753	c.537G>T	c.(535-537)gaG>gaT	p.E179D	AHI1_ENST00000457866.2_Missense_Mutation_p.E179D|AHI1_ENST00000327035.6_Missense_Mutation_p.E179D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	179						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAAATCAGTCTCTTCTCTTC	0.393000													9	55					0.00621372	0.00648785	1	1	0
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	0.597000													9	32					0	0	1	0	0
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_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*			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	0.567000													15	43					0	0	1	0	0
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	0.502000													14	117					1.15088e-07	1.25711e-07	1	1	0
HAPLN3	145864	broad.mit.edu	37	15	89424631	89424631	+	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.chr15:89424631G>A	ENST00000359595.3	-	3	664	c.450C>T	c.(448-450)gaC>gaT	p.D150D	HAPLN3_ENST00000562889.1_Silent_p.D212D	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	150	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTCCAGCCCGTCAATGACCT	0.627000													30	98					0	0	1	0	0
GATS	0	broad.mit.edu	37	7	99821642	99821642	+	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.chr7:99821642C>T	ENST00000436886.2	-	3	522	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		92										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGACACCACGTTCAGGGCC	0.622000													18	124					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2380266	2380266	+	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.chr20:2380266C>T	ENST00000202625.2	+	6	793	c.732C>T	c.(730-732)ggC>ggT	p.G244G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	244					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTACGGCGGCGGCACCAGCC	0.647000													6	71					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111088622	111088622	+	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.chr13:111088622G>A	ENST00000360467.5	+	13	1039	c.733G>A	c.(733-735)Gta>Ata	p.V245I		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	245	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGGGTGACGTAGGGCAGCC	0.478000													7	53					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112940404	112940404	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr2:112940404G>A	ENST00000331203.2	+	6	978	c.707G>A	c.(706-708)cGc>cAc	p.R236H	FBLN7_ENST00000409450.3_Missense_Mutation_p.R190H|FBLN7_ENST00000409903.1_Missense_Mutation_p.R236H|FBLN7_ENST00000409667.3_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	236	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGAGGGGCGCCCCCGGCTC	0.622000													4	99					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84370065	84370065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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_598375.2	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	0.338000								Other identified genes with known or suspected DNA repair function					3	31					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68010634	68010634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.552000													7	46					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333346	36333346	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.582000													19	103					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25255780	25255780	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.473000													9	67					0.38729	0.393158	1	1	0
MIR520F	0	broad.mit.edu	37	19	54185442	54185442	+	RNA	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr19:54185442G>A	ENST00000384824.1	+	0	30					NR_030186.1																						AAAGGGAAGCGCTTTCTGTGG	0.428000													12	75					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65514270	65514270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.378000			T	HMGA2	pleomorphic salivary gland adenoma								5	109					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427648	5427648	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr7:5427648G>A	ENST00000399537.4	-	5	2155	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	TNRC18_ENST00000430969.1_Missense_Mutation_p.R603C			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	603							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCAGGGCGCACGGCCACG	0.672000													3	9					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114240088	114240088	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr13:114240088G>A	ENST00000375370.5	+	2	148		c.e2-1		TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site|TFDP1_ENST00000544902.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ttttttACCAGAAAAATCATT	0.333000										TSP Lung(29;0.18)			6	41					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99955361	99955361	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr6:99955361T>C	ENST00000327681.6	-	4	852	c.320A>G	c.(319-321)aAg>aGg	p.K107R	USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R|USP45_ENST00000329966.5_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	0.333000													3	70					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702748	27702748	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.667000													12	78					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97380889	97380889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr10:97380889G>A	ENST00000371224.2	-	12	1503	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454C	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	456	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CGGGTGCGGCGCAAAACACGT	0.537000													13	67					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200821	52200821	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr12:52200821T>G	ENST00000354534.5	+	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	1851					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	0.557000													26	117					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92139267	92139267	+	Silent	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr14:92139267G>A	ENST00000256343.3	-	13	1228	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	358					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAATGTTAGCACAGTTGGA	0.368000													4	135					0	0	1	0	0
PCDHB18	0	broad.mit.edu	37	5	140615983	140615983	+	RNA	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr5:140615983G>A	ENST00000526308.1	+	0	2046					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCGTGTGGGCGCACAATGGCG	0.701000													4	145					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr14:38061231A>G	ENST00000250448.2	-	2	819	c.758T>C	c.(757-759)aTg>aCg	p.M253T	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T	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	0.687000													4	28					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr17:47696424G>T	ENST00000393331.3	-	7	869	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_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	0.448000										Prostate(2;0.17)			15	135					1.15919e-05	1.2732e-05	1	1	0
AGA	175	broad.mit.edu	37	4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.368000													38	271					0	0	1	0	0
AAED1	195827	broad.mit.edu	37	9	99404081	99404081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.403000													16	93					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50607643	50607643	+	Silent	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr7:50607643G>A	ENST00000444124.2	-	3	485	c.285C>T	c.(283-285)tgC>tgT	p.C95C	DDC_ENST00000357936.5_Silent_p.C95C|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.C95C|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.C95C	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	95	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAATGGCCCCGCACAGCATGT	0.657000													16	29					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329811	137329811	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr6:137329811G>A	ENST00000367748.1	-	4	902	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.H217Y|IL20RA_ENST00000541547.1_Missense_Mutation_p.H168Y			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	217	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GACTCCACGTGTACGCAGTAA	0.532000													4	118					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482577	94482577	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.468000													4	68					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728254	20728254	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr19:20728254C>G	ENST00000427401.4	-	4	849	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	252					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCACTATGAATTAT	0.403000													3	41					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169953739	169953739	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr1:169953739T>C	ENST00000367765.1	-	12	2758	c.1257A>G	c.(1255-1257)gtA>gtG	p.V419V	KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000540905.1_Silent_p.V161V|KIFAP3_ENST00000538366.1_Silent_p.V381V	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	0.328000													8	58					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77728307	77728307	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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_023930.3	NP_001190189.1|NP_001190191.1|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	0.502000													8	46					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65005959	65005959	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.478000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	47					0.00307968	0.00332804	1	1	0
CAND1	55832	broad.mit.edu	37	12	67700301	67700301	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.423000													12	75					0	0	1	0	0
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-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.617000													9	260					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	148					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517000													4	70					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40085626	40085626	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.373000													31	101					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72428400	72428400	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr3:72428400A>T	ENST00000477973.1	-	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	0.328000													28	99					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156192555	156192555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr3:156192555G>T	ENST00000302490.8	+	8	1421	c.550G>T	c.(550-552)Gag>Tag	p.E184*	KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*	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	0.433000													14	128					4.7546e-09	5.3993e-09	1	1	0
PCDH1	5097	broad.mit.edu	37	5	141242917	141242917	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr5:141242917C>T	ENST00000287008.3	-	3	3126	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.V993V|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000456271.1_Silent_p.V981V	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	0.637000													3	24					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49665572	49665572	+	Splice_Site	SNP	C	C	T	rs147611117		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr6:49665572C>T	ENST00000339139.4	-	8	752		c.e8+1			NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2							extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGTCTACTTACGCAGGACAAT	0.328000													22	138					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815432	43815432	+	Silent	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.537000													6	22					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.647000													7	35					0	0	1	0	0
RPP38	10557	broad.mit.edu	37	10	15145358	15145358	+	Silent	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.498000													13	74					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10506785	10506785	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.677000													27	122					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	857600	857600	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.701000													5	52					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8923006	8923006	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.532000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120932465	120932465	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr2:120932465A>G	ENST00000443902.2	+	24	2195	c.2053A>G	c.(2053-2055)Act>Gct	p.T685A	EPB41L5_ENST00000452780.1_Silent_p.L727L|AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000263713.5_Silent_p.L728L	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	0.512000													27	157					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48934221	48934221	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.313000		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					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38233836	38233836	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr17:38233836G>A	ENST00000450525.2	+	4	688	c.197G>A	c.(196-198)cGc>cAc	p.R66H	THRA_ENST00000264637.4_Missense_Mutation_p.R66H|THRA_ENST00000584985.1_Missense_Mutation_p.R66H|THRA_ENST00000546243.1_Missense_Mutation_p.R66H|THRA_ENST00000394121.4_Missense_Mutation_p.R66H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	66					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TATCACTACCGCTGTATCACT	0.552000													20	154					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645021	87645021	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.358000													4	24					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167420049	167420049	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr5:167420049C>T	ENST00000519204.1	+	4	803	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	TENM2_ENST00000545108.1_Missense_Mutation_p.R350C|TENM2_ENST00000403607.2_Missense_Mutation_p.R183C|TENM2_ENST00000518659.1_Missense_Mutation_p.R350C|TENM2_ENST00000520394.1_Missense_Mutation_p.R159C					teneurin transmembrane protein 2																		GCCCCCGCCCCGCCTGCTGCC	0.587000													4	88					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196673406	196673406	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr2:196673406C>T	ENST00000312428.6	-	53	10183	c.10083_splice	c.e53+1	p.L3361_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3361					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3361F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAAACATACCAAACTATCAT	0.318000													7	83					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676275	20676275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.557000													4	112					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68315610	68315610	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr11:68315610G>T	ENST00000393799.2	+	5	757	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524904.1_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	0.428000													4	114					0.150653	0.155289	1	1	0
ZNF92	168374	broad.mit.edu	37	7	64864202	64864202	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr7:64864202C>T	ENST00000328747.7	+	4	1374	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	ZNF92_ENST00000431504.1_Missense_Mutation_p.T316M|ZNF92_ENST00000450302.2_Missense_Mutation_p.T323M|ZNF92_ENST00000357512.2_Missense_Mutation_p.T360M	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AGAATTCATACGGGAGAAAAA	0.373000													13	82					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693450	94693450	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTCTTAGCCGCACACTGTCA	0.493000													3	54					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.602000													41	257					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787164	135787164	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr6:135787164C>A	ENST00000367800.4	-	5	753	c.537G>T	c.(535-537)gaG>gaT	p.E179D	AHI1_ENST00000327035.6_Missense_Mutation_p.E179D|AHI1_ENST00000457866.2_Missense_Mutation_p.E179D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	179						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAAATCAGTCTCTTCTCTTC	0.393000													9	55					0.00621372	0.00650498	1	1	0
ANGPT4	51378	broad.mit.edu	37	20	861826	861826	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.597000													9	32					0	0	1	0	0
IQCF3	401067	broad.mit.edu	37	3	51864455	51864455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr3:51864455A>T	ENST00000456080.1	+	8	1268	c.103A>T	c.(103-105)Aag>Tag	p.K35*	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*			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	0.567000													15	43					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266787	48266787	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	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	0.502000													14	117					1.15088e-07	1.28515e-07	1	1	0
HAPLN3	145864	broad.mit.edu	37	15	89424631	89424631	+	Silent	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr15:89424631G>A	ENST00000359595.3	-	3	664	c.450C>T	c.(448-450)gaC>gaT	p.D150D	HAPLN3_ENST00000562889.1_Silent_p.D212D	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	150	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTCCAGCCCGTCAATGACCT	0.627000													30	98					0	0	1	0	0
GATS	0	broad.mit.edu	37	7	99821642	99821642	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr7:99821642C>T	ENST00000436886.2	-	3	522	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		92										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGACACCACGTTCAGGGCC	0.622000													18	124					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2380266	2380266	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr20:2380266C>T	ENST00000202625.2	+	6	793	c.732C>T	c.(730-732)ggC>ggT	p.G244G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	244					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTACGGCGGCGGCACCAGCC	0.647000													6	71					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111088622	111088622	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr13:111088622G>A	ENST00000360467.5	+	13	1039	c.733G>A	c.(733-735)Gta>Ata	p.V245I		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	245	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGGGTGACGTAGGGCAGCC	0.478000													7	53					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22332001	22332001	+	Frame_Shift_Del	DEL	C	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.chr1:22332001delC	ENST00000290122.3	+	3	210	c.191delC	c.(190-192)gcfs	p.A64fs	CELA3A_ENST00000374663.1_Frame_Shift_Del_p.A64fs	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCCTCATCGCCCCCGATTGG	0.627											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	207	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	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.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													11	395	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		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.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	5	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708854	+	RNA	DEL	A	A	-	rs60396213		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.chr5:180708854delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGG	0.692													3	5	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-			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.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tct>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.640													3	6	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			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.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													10	169	---	---	---	---					
RP11-509J21.1	0	broad.mit.edu	37	9	3661724	3661726	+	RNA	DEL	CTG	CTG	-			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.chr9:3661724_3661726delCTG	ENST00000423112.2	+	0	394																											gctgttatcactgctgctgctgc	0.507													2	4	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			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.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttg>t	p.LL4432del		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4432					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557													7	263	---	---	---	---					
CARS2	79587	broad.mit.edu	37	13	111358330	111358330	+	Frame_Shift_Del	DEL	C	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.chr13:111358330delC	ENST00000257347.4	-	1	174	c.111delG	c.(109-111)ggfs	p.G37fs	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	37					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	cccgcccgcgccccccgctcg	0.781													2	4	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			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.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													8	143	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-			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.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303																											AGTATATGTAACTACTACTACTA	0.517													7	276	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	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.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)aaafs	p.K1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347													7	66	---	---	---	---					
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			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.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					8	205	---	---	---	---					
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)gcfs	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	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			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.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													7	83	---	---	---	---					
CCDC144B	0	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		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.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	2	---	---	---	---					
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	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.chr18:21750331delT	ENST00000319481.3	-	24	2584	c.2378delA	c.(2377-2379)atfs	p.N793fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	793					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393													7	95	---	---	---	---					
CELA3A	10136	broad.mit.edu	37	1	22332001	22332001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr1:22332001delC	ENST00000290122.3	+	3	210	c.191delC	c.(190-192)gcfs	p.A64fs	CELA3A_ENST00000374663.1_Frame_Shift_Del_p.A64fs	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCCTCATCGCCCCCGATTGG	0.627											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	207	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27023376	27023377	+	In_Frame_Ins	INS	-	-	CGC			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr1:27023376_27023377insCGC	ENST00000324856.7	+	1	853_854	c.482_483insCGC	c.(481-483)ggc>gCGCgc	p.161_161G>AR	ARID1A_ENST00000457599.2_In_Frame_Ins_p.161_161G>AR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	161					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.P158fs*236(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCGTCTGCCGTCGCCGCCGCCG	0.752			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								5	5	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	5	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													7	262	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145647319	145647320	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr5:145647319_145647320insA	ENST00000265271.5	+	15	2605_2606	c.2439_2440insA	c.(2437-2442)ctaaaafs	p.LK813fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.LK758fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	813					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTGCTTAAAAAAAAACA	0.351													7	76	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tct>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.640													3	6	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142459777	142459778	+	RNA	INS	-	-	A	rs144781370	by1000genomes	TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr8:142459777_142459778insA	ENST00000430863.1	-	0	2629_2630					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GCAGACAGGCCAGCAGTGTGGT	0.678													2	4	---	---	---	---					
CARS2	79587	broad.mit.edu	37	13	111358330	111358330	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr13:111358330delC	ENST00000257347.4	-	1	174	c.111delG	c.(109-111)ggfs	p.G37fs	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	37					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	cccgcccgcgccccccgctcg	0.781													2	4	---	---	---	---					
CCDC101	112869	broad.mit.edu	37	16	28597027	28597027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr16:28597027delA	ENST00000317058.3	+	4	397	c.210delA	c.(208-210)gcfs	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	---	---	---	---					
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr18:21750331delT	ENST00000319481.3	-	24	2584	c.2378delA	c.(2377-2379)atfs	p.N793fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	793					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393													7	95	---	---	---	---					
