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
KIAA0196	9897	broad.mit.edu	37	8	126091083	126091083	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:126091083C>T	ENST00000318410.7	-	6	957	c.608G>A	c.(607-609)aGa>aAa	p.R203K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R55K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	203					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTTGGATGGTCTTTTGGCACC	0.428000													8	85					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212501	1212501	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:1212501G>A	ENST00000304460.10	+	4	621	c.565G>A	c.(565-567)Gac>Aac	p.D189N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	189					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCCATCAGCGACTCGGGCTC	0.622000													42	106					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616640	77616640	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:77616640C>T	ENST00000521891.2	+	2	765	c.317C>T	c.(316-318)cCt>cTt	p.P106L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P106L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P106L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P106L|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCCGCCTTCCTGTCCTGAAG	0.502000										HNSCC(33;0.089)			25	175					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654648	160654648	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:160654648G>A	ENST00000368045.3	-	2	453	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CD48_ENST00000368046.3_Intron			P09326	CD48_HUMAN	CD48 molecule	138	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGGAGTGGGGATTTGCTCT	0.537000													32	109					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653795	30653795	+	Silent	SNP	A	A	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:30653795A>C	ENST00000358107.4	-	2	386	c.387T>G	c.(385-387)ctT>ctG	p.L129L	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTTTCACCTGAAGGGAGGGGT	0.652000													5	12					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													3	33					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121624065	121624065	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:121624065T>G	ENST00000393386.2	+	8	1233	c.822T>G	c.(820-822)taT>taG	p.Y274*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Y274*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	274	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATCTGGTTATGTCATGCTGA	0.353000													18	54					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196293	42196293	+	Silent	SNP	C	C	T	rs139239106		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:42196293C>T	ENST00000541110.1	-	18	4021	c.3453G>A	c.(3451-3453)acG>acA	p.T1151T	TRERF1_ENST00000372917.4_Silent_p.T1060T|TRERF1_ENST00000340840.2_Silent_p.T1060T|TRERF1_ENST00000372922.4_Silent_p.T1131T|TRERF1_ENST00000354325.2_Silent_p.T1048T			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1131	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTCTCAATCGTGGCTGCCA	0.582000													93	294					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1842365	1842365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:1842365C>T	ENST00000568221.1	-	2	170	c.86G>A	c.(85-87)tGg>tAg	p.W29*	IGFALS_ENST00000415638.3_Silent_p.V56V|IGFALS_ENST00000215539.3_Silent_p.V18V			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	0					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GGCCCAGTGCCACCCAGGACA	0.741000													5	15					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013928	74013928	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:74013928C>T	ENST00000301607.3	-	14	1855	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	EVPL_ENST00000586740.1_Silent_p.L556L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	534	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCTCCATCCAGCCGGGTCA	0.677000													16	56					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802590	35802590	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:35802590C>T	ENST00000342694.2	+	11	2056	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	601	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATACTGTCCTCGTGGGAGTTT	0.488000													12	29					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145796966	145796966	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:145796966C>T	ENST00000282903.5	-	13	1614	c.1437G>A	c.(1435-1437)agG>agA	p.R479R	PLOD2_ENST00000494950.1_Silent_p.R424R|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Silent_p.R479R|PLOD2_ENST00000461497.1_Silent_p.R139R	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	479					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAAAATAGTTCCTTTCATTCA	0.373000													23	73					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	843544	843544	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:843544C>T	ENST00000314167.4	-	28	3963	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	GAK_ENST00000511163.1_Missense_Mutation_p.E1206K|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1285	J.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGTGCTGCTCGTACGGCTGC	0.677000													5	25					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43672527	43672527	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:43672527T>C	ENST00000372492.4	+	10	2003	c.1679T>C	c.(1678-1680)gTt>gCt	p.V560A	WDR65_ENST00000528956.1_Missense_Mutation_p.V560A	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	560										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACAACTGTGTTACTGTCTCC	0.507000													15	42					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:35968221C>T	ENST00000274278.3	-	3	568	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	UGT3A1_ENST00000503189.1_Missense_Mutation_p.E71K|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.E37K|UGT3A1_ENST00000333811.4_Missense_Mutation_p.E17K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	71						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGATTTTTCCTCCTCTTTA	0.299000													4	9					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999685	113999685	+	Silent	SNP	G	G	C	rs61730086		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:113999685G>C	ENST00000429538.3	-	6	695	c.501C>G	c.(499-501)ccC>ccG	p.P167P	AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Silent_p.P167P|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263335.7_Silent_p.P167P|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000348715.5_Silent_p.P167P|PAX8_ENST00000263334.5_Silent_p.P167P	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	167					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGACTCCGGGGGAGTTACAG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis						5	26					0	0	1	0	0
RAB8B	51762	broad.mit.edu	37	15	63555797	63555797	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:63555797C>T	ENST00000321437.4	+	8	759	c.603C>T	c.(601-603)ttC>ttT	p.F201F	RAB8B_ENST00000448330.2_Silent_p.F184F	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	201					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						AGACCAGTTTCTTTCGTTGCT	0.458000													7	19					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788535	42788535	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:42788535C>T	ENST00000372980.3	-	2	1764	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	298					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGCGTTTGTCGTTCTTCCAC	0.682000													11	31					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392408	65392408	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:65392408C>T	ENST00000519389.1	+	3	720	c.541C>T	c.(541-543)Cct>Tct	p.P181S	HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000343002.2_Missense_Mutation_p.P127S|HEPH_ENST00000374727.3_Missense_Mutation_p.P130S|HEPH_ENST00000441993.2_Missense_Mutation_p.P130S|HEPH_ENST00000419594.1_Missense_Mutation_p.P130S			Q9BQS7	HEPH_HUMAN	hephaestin	127	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TACCATCCACCCTCATGGTGT	0.493000													17	87					0	0	1	0	0
ATOH7	220202	broad.mit.edu	37	10	69991095	69991095	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:69991095C>G	ENST00000373673.3	-	1	776	c.340G>C	c.(340-342)Gag>Cag	p.E114Q		NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	114					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CCGAAGTGCTCACAGTGGAGA	0.677000													7	37					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004823	248004823	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:248004823T>C	ENST00000355784.2	-	1	431	c.376A>G	c.(376-378)Atc>Gtc	p.I126V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGCTGCAGATGGCCAGGTAA	0.602000													7	35					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15661592	15661592	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:15661592C>T	ENST00000281171.4	+	7	1685	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	PTPRO_ENST00000543886.1_Missense_Mutation_p.S452F|PTPRO_ENST00000348962.2_Missense_Mutation_p.S452F	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	452	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCCTTGATGTCCTGGACATCT	0.502000													6	62					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651132	90651132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:90651132G>A	ENST00000282146.4	+	2	1453	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	338						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAGTGACACGGACGGGCGCCG	0.602000													22	77					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078253	111078253	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:111078253C>T	ENST00000262839.2	-	7	2710	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	598					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTACAAACTCGGTGAATTCG	0.418000													76	239					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406997	47406997	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:47406997G>A	ENST00000310638.4	-	1	140	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F	CYP4A11_ENST00000371905.1_Missense_Mutation_p.L37F|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L37F|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	37					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGCAGGTAGAGCTGAACTGCC	0.607000													49	48					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37309274	37309274	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:37309274G>A	ENST00000231498.3	-	24	2927	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.S844S|NUP155_ENST00000381843.2_Silent_p.S849S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	908					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACTTGATTGCTAATTTTTT	0.338000													7	31					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142444979	142444979	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:142444979G>A	ENST00000606664.1	+	0	335				MROH5_ENST00000430863.1_RNA																							GCAGGTAGCTGAGGGCCTGTG	0.647000													24	99					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102343254	102343254	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:102343254G>A	ENST00000438793.3	+	19	2578	c.2108G>A	c.(2107-2109)cGg>cAg	p.R703Q	PAM_ENST00000304400.7_Missense_Mutation_p.R703Q|PAM_ENST00000455264.2_Missense_Mutation_p.R703Q|PAM_ENST00000274392.9_Missense_Mutation_p.R606Q|PAM_ENST00000348126.2_Missense_Mutation_p.R596Q|PAM_ENST00000379787.4_Missense_Mutation_p.R83Q|PAM_ENST00000346918.2_Missense_Mutation_p.R703Q	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	703	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTGGCAGACCGGGAAAATGGT	0.443000													25	56					0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110084297	110084297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:110084297G>A	ENST00000358015.3	+	7	1066	c.715G>A	c.(715-717)Gtt>Att	p.V239I	RAD23B_ENST00000416373.2_Missense_Mutation_p.V167I	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	239					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TCAGGCTGTGGTTGACCCCCC	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)					11	23					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7463332	7463332	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:7463332G>A	ENST00000399422.4	+	3	658	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	204					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAGCTTCCAGGAGTTATTTCA	0.478000													4	13					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640024	7640024	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:7640024C>T	ENST00000359156.4	-	8	2183	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CD163_ENST00000432237.2_Missense_Mutation_p.D661N|CD163_ENST00000541972.1_Missense_Mutation_p.D649N|CD163_ENST00000396620.3_Missense_Mutation_p.D694N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	661	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGACAATCTCCCATGTGC	0.507000													13	45					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435547	18435547	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:18435547A>G	ENST00000433979.1	+	2	648	c.532A>G	c.(532-534)Aca>Gca	p.T178A	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.T178A|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.T178A|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.T178A	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	178					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CATTCCTCCAACAAATTCATC	0.348000													24	80					0	0	1	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976386	89976386	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:89976386G>A	ENST00000474213.1	+	0	292																											GTCCCAGACAGATTCAGCGGC	0.502000													40	155					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751443	26751443	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:26751443A>G	ENST00000396641.2	+	2	872	c.280A>G	c.(280-282)Aac>Gac	p.N94D	LRRC3B_ENST00000456208.2_Missense_Mutation_p.N94D|LRRC3B_ENST00000417744.1_Missense_Mutation_p.N94D	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	94						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAGAGTTCTCAACCTGTCCAA	0.423000													8	34					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29246029	29246029	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:29246029A>G	ENST00000379558.4	+	12	1940	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.H475R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	530							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGAAGCTGCACGACGTGTGC	0.632000													4	6					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168127630	168127630	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:168127630C>T	ENST00000519560.1	-	27	3318	c.2899G>A	c.(2899-2901)Gga>Aga	p.G967R	SLIT3_ENST00000404867.3_Missense_Mutation_p.G967R|SLIT3_ENST00000332966.8_Missense_Mutation_p.G974R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	967	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGTGCCTCCATGCTGACAG	0.552000													11	36					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893395	75893395	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:75893395G>A	ENST00000274364.6	+	10	1336	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	347					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTATCAGAACGAACTTTTCAA	0.547000													20	70					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42284434	42284434	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:42284434C>T	ENST00000294964.5	+	6	1476	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	432	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						ACCACGGGAGCTGCCTCCTTT	0.577000													20	115					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	53814261	53814261	+	Silent	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:53814261A>G	ENST00000373980.4	+	6	1197	c.780A>G	c.(778-780)ggA>ggG	p.G260G	PRKG1_ENST00000401604.2_Silent_p.G245G|PRKG1_ENST00000373975.2_5'UTR|PRKG1_ENST00000373985.1_Silent_p.G233G	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	245					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATGAAAATGGAGAATATATTA	0.413000													9	37					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377160	50377160	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:50377160G>C	ENST00000376020.2	-	4	1938	c.1913C>G	c.(1912-1914)tCt>tGt	p.S638C	SHROOM4_ENST00000289292.7_Missense_Mutation_p.S638C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S522C	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	638					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGATAGAAGAGATGTGTTAGA	0.517000													11	42					0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1959984	1959984	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:1959984G>A	ENST00000399849.2	+	0	160				HIC1_ENST00000571875.1_3'UTR|HIC1_ENST00000322941.3_Silent_p.T19T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1						multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CTGGGCAGACGATGCTGGACA	0.692000													3	12					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826075	117826075	+	Splice_Site	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:117826075C>T	ENST00000350763.4	-	12	4171	c.3760_splice	c.e12+1	p.E1254_splice	TNC_ENST00000341037.4_Splice_Site_p.E1254_splice|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Splice_Site_p.E1254_splice|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1254					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTAGAATACCTGTCAAGACT	0.498000													18	42					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170182	207170182	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:207170182G>A	ENST00000374423.3	+	5	1316	c.930G>A	c.(928-930)ccG>ccA	p.P310P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	310							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTAAACCCGAATAAAACTG	0.373000													5	24					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48878827	48878827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:48878827C>T	ENST00000262105.2	+	8	1122	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.Q305*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	305					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGCCTTCTTCCAGTGCCAAGT	0.622000													18	54					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895480	145895480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:145895480C>T	ENST00000311104.2	-	1	273	c.197G>A	c.(196-198)tGg>tAg	p.W66*		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	66						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCCTTTCCAAGCATTGTG	0.547000													13	61					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16529044	16529044	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:16529044G>A	ENST00000270747.3	-	13	2069	c.1933C>T	c.(1933-1935)Cat>Tat	p.H645Y	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	645	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTGGCATGGACGAAAACG	0.667000													16	87					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098082	93098082	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:93098082G>A	ENST00000359558.2	-	8	819	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	CALCR_ENST00000426151.1_Missense_Mutation_p.H156Y|CALCR_ENST00000421592.1_Missense_Mutation_p.H156Y|CALCR_ENST00000360249.4_Missense_Mutation_p.H156Y|CALCR_ENST00000394441.1_Missense_Mutation_p.H156Y	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	156					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GACAAAGAATGACCCACAATA	0.348000													13	42					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31427835	31427835	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:31427835C>T	ENST00000389202.2	+	20	2416	c.2367C>T	c.(2365-2367)acC>acT	p.T789T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	789					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCTGCAGACCCTGACCGTGG	0.602000													15	91					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717313	73717313	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:73717313A>G	ENST00000264448.6	+	10	8335	c.8224A>G	c.(8224-8226)Act>Gct	p.T2742A	ALMS1_ENST00000409009.1_Missense_Mutation_p.T2700A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2742					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGCCAGTGTACTGGAGCATC	0.383000													20	93					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539545	133539545	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:133539545C>T	ENST00000409261.1	-	14	5212	c.4839G>A	c.(4837-4839)acG>acA	p.T1613T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1613T|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1613							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGTGTCTTTCGTTGAACATG	0.438000													16	49					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389482	150389482	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:150389482T>G	ENST00000223293.5	+	3	202	c.108T>G	c.(106-108)agT>agG	p.S36R		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	36						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGCAAAAGTGCTGCAGGGA	0.512000													17	40					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702423	179702423	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:179702423C>T	ENST00000420890.2	-	23	3640	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E600K|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	600							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGTAGTCGCTCTTCCCCTGTT	0.488000													18	97					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53228021	53228021	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:53228021C>T	ENST00000452825.3	-	14	2624	c.2092G>A	c.(2092-2094)Gtt>Att	p.V698I	KDM5C_ENST00000375379.3_Missense_Mutation_p.V765I|KDM5C_ENST00000375383.3_Missense_Mutation_p.V724I|KDM5C_ENST00000375401.3_Missense_Mutation_p.V765I|KDM5C_ENST00000404049.3_Missense_Mutation_p.V764I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	765			E -> K (in MRXSJ; abolishes function in vivo, but no effect on enzymatic activity or binding to H3-K9Me3).		chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCAGCCCGAACCTTCAGCTTA	0.597000			"""N, F, S"""		clear cell renal carcinoma								22	74					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62547884	62547884	+	Silent	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:62547884T>C	ENST00000448257.2	+	5	586	c.385T>C	c.(385-387)Tta>Cta	p.L129L	CDK1_ENST00000316629.4_Intron|CDK1_ENST00000373809.2_Intron|CDK1_ENST00000395284.3_Silent_p.L129L			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	129	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TCACAGAGACTTAAAACCTCA	0.358000													11	46					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127697639	127697639	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:127697639A>T	ENST00000368695.1	+	9	970	c.848A>T	c.(847-849)aAt>aTt	p.N283I	FANK1_ENST00000368693.1_Missense_Mutation_p.N289I|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	289						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTGTTAAATAATCATGAAGAG	0.458000													9	40					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11977655	11977655	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:11977655C>T	ENST00000339865.5	+	27	4560	c.3797C>T	c.(3796-3798)cCt>cTt	p.P1266L	USP47_ENST00000527733.1_Missense_Mutation_p.P1334L|USP47_ENST00000539466.1_Missense_Mutation_p.P136L|USP47_ENST00000399455.2_Missense_Mutation_p.P1354L|USP47_ENST00000305481.6_3'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1354					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ACATACTCACCTCGTAAAGAG	0.393000													14	74					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2092727	2092727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:2092727G>A	ENST00000262113.4	+	37	4361	c.4220G>A	c.(4219-4221)gGc>gAc	p.G1407D	MYOM2_ENST00000523438.1_Missense_Mutation_p.G832D|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1407	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCATCAAAGGCGTGACCTCC	0.542000													10	67					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506412	125506412	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:125506412C>T	ENST00000241305.3	-	14	2293	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	713					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R713S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGAAGTCACACCTTGTGGCCC	0.552000													34	127					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431911	140431911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140431911G>A	ENST00000306549.3	+	1	933	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		286	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAAACCCAGAAGCAATTCT	0.473000													18	28					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125987928	125987928	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:125987928A>T	ENST00000319286.5	+	2	200	c.46A>T	c.(46-48)Atg>Ttg	p.M16L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TAACAGCTTTATGGAGAGGGA	0.393000										HNSCC(60;0.17)			7	44					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46846566	46846566	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:46846566C>T	ENST00000393382.3	-	15	2602	c.2461G>A	c.(2461-2463)Gag>Aag	p.E821K	TTLL6_ENST00000433608.2_Missense_Mutation_p.E514K	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	773						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGCCTCTTCTCGCCAGAGCTG	0.562000													9	50					0	0	1	0	0
MRPS18A	55168	broad.mit.edu	37	6	43643271	43643271	+	Silent	SNP	G	G	A	rs144606291		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:43643271G>A	ENST00000372133.3	-	4	347	c.336C>T	c.(334-336)caC>caT	p.H112H	MRPS18A_ENST00000372116.1_Silent_p.H112H	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	112					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CGATCTTGCGGTGTTCTTCCT	0.592000													15	52					0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110873301	110873301	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:110873301G>A	ENST00000272462.2	-	1	842	c.69C>T	c.(67-69)ttC>ttT	p.F23F	MALL_ENST00000427178.1_Silent_p.F23F	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	23	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GGATGGTGAGGAACAGCGCGA	0.741000													3	12					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17250704	17250704	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:17250704G>A	ENST00000285681.2	+	25	3543	c.3174G>A	c.(3172-3174)ccG>ccA	p.P1058P	USP25_ENST00000285679.6_Silent_p.P1026P|USP25_ENST00000400183.2_Silent_p.P1096P|USP25_ENST00000351097.5_Silent_p.P421P			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1026					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P1026P(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATGAGCCACCGAAGTTACCTT	0.423000													9	40					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35042882	35042882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:35042882G>A	ENST00000312292.5	+	2	303	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	C9orf131_ENST00000354479.5_Missense_Mutation_p.A13T|C9orf131_ENST00000421362.2_Missense_Mutation_p.A38T	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	86										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCACCGTGTGGCCTTCCTTGA	0.488000													13	42					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985515	108985515	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:108985515C>T	ENST00000392806.3	-	2	813	c.645G>A	c.(643-645)ggG>ggA	p.G215G		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	215						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CTTCCTGGTCCCCCTCCTGGC	0.692000													11	51					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636093	73636093	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:73636093G>A	ENST00000261917.3	-	2	1835	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	281					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GATGCCCACAGGAATGATAAT	0.507000													14	68					0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249126	73249126	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:73249126G>A	ENST00000297873.4	-	6	734	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	229										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GACAATGCCGGAGATGAAGCC	0.632000													13	52					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41524629	41524629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:41524629C>T	ENST00000318588.9	-	7	654	c.609G>A	c.(607-609)tgG>tgA	p.W203*	CASK_ENST00000442742.2_Nonsense_Mutation_p.W203*|CASK_ENST00000361962.4_Nonsense_Mutation_p.W203*|CASK_ENST00000421587.2_Nonsense_Mutation_p.W203*|CASK_ENST00000378154.1_Nonsense_Mutation_p.W203*|CASK_ENST00000378158.1_Nonsense_Mutation_p.W203*|CASK_ENST00000378163.1_Nonsense_Mutation_p.W203*|CASK_ENST00000378166.4_Nonsense_Mutation_p.W203*			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	203	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CACCGCACCCCCAGACGTCTA	0.418000													5	17					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006663	8006663	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:8006663G>A	ENST00000344293.5	+	3	1396	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	397					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GTGATTGCACGAGCCTGTGCT	0.488000													26	85					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672716	113672716	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:113672716C>T	ENST00000330212.3	+	3	630	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.L105F	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	111						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CTGGCATTTCCTCCTGGGGGT	0.527000													42	161					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708431	12708431	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:12708431G>A	ENST00000380682.1	+	8	1305	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	267	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCATGAACAGGAGACTCTAAC	0.502000													17	76					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409854	159409854	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:159409854C>T	ENST00000423932.3	+	1	343	c.306C>T	c.(304-306)ccC>ccT	p.P102P	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	102					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGAGCCAGCCCATATCATTGG	0.478000													16	62					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100382286	100382286	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:100382286T>C	ENST00000281806.2	-	5	1009	c.695A>G	c.(694-696)aAg>aGg	p.K232R	MCHR2_ENST00000445970.1_Missense_Mutation_p.K232R|MCHR2_ENST00000369212.1_Missense_Mutation_p.K232R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTGGCATCCTTATTCTGTTG	0.323000													18	59					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515736	140515736	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140515736C>T	ENST00000231134.5	+	1	937	c.720C>T	c.(718-720)ccC>ccT	p.P240P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		240	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGCCCCCGAATTTTTAC	0.517000													56	294					0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44589345	44589345	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:44589345C>T	ENST00000291554.2	+	1	228	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	46					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CACCATCAGCCCCTACTACCG	0.632000													22	109					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165351	51165351	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:51165351G>A	ENST00000293441.1	-	23	6375	c.6357C>T	c.(6355-6357)ttC>ttT	p.F2119F	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Silent_p.F1506F|SHANK1_ENST00000391814.1_Silent_p.F2127F|SHANK1_ENST00000359082.3_Silent_p.F2110F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2119	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGTGGTCCAGGAACTGGGCTC	0.617000													22	47					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170952	104170952	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:104170952C>T	ENST00000374861.3	+	3	1144	c.860C>T	c.(859-861)tCa>tTa	p.S287L	ZNF189_ENST00000259395.4_Missense_Mutation_p.S259L|ZNF189_ENST00000339664.2_Missense_Mutation_p.S301L	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	301					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGTCGAAATTCATTGCTTGTT	0.403000													40	90					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991943	112991943	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:112991943C>T	ENST00000495514.1	+	8	1693	c.989C>T	c.(988-990)tCc>tTc	p.S330F	BOC_ENST00000273395.4_Missense_Mutation_p.S330F|BOC_ENST00000355385.3_Missense_Mutation_p.S330F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	330	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATGGAGCTATCCCAGCTGGTC	0.637000													15	65					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184769805	184769805	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:184769805G>A	ENST00000437079.3	+	48	4450	c.4279G>A	c.(4279-4281)Gag>Aag	p.E1427K	VPS8_ENST00000287546.4_Missense_Mutation_p.E1427K|VPS8_ENST00000436792.2_Missense_Mutation_p.E1425K|VPS8_ENST00000446204.2_Missense_Mutation_p.E1335K	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1427							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACCTGTGACTGAGGATTGATG	0.587000													6	30					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67692058	67692058	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:67692058G>A	ENST00000219251.8	-	10	1617	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	ACD_ENST00000393919.4_Missense_Mutation_p.P432L	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	432	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGAGACTGGGAGTGCAGCT	0.647000													19	51					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			37	99					6.29468e-14	6.38108e-14	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604337	140604337	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140604337G>A	ENST00000239449.4	+	1	1260	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	PCDHB14_ENST00000515856.2_Silent_p.T267T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACGATCACCGTCA	0.488000													40	141					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277249	152277249	+	Silent	SNP	G	G	A	rs141599535		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152277249G>A	ENST00000368799.1	-	3	10148	c.10113C>T	c.(10111-10113)tcC>tcT	p.S3371S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3371	Ser-rich.		S -> F (in dbSNP:rs3120647).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCACGTGCGGACTCTTGGT	0.587000									Ichthyosis				239	285					0	0	1	0	0
USP32P3	347716	broad.mit.edu	37	17	20320050	20320050	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:20320050G>A	ENST00000583574.2	+	0	333																											ACTCAGAGAAGCAGAGGAACT	0.547000													8	21					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524354	37524354	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:37524354G>A	ENST00000216223.5	-	10	1636	c.1438C>T	c.(1438-1440)Cca>Tca	p.P480S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	480					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACCAGGTCTGGGACTCCTGGG	0.667000													21	40					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882128	149882128	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:149882128G>A	ENST00000369146.3	-	5	1573	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SV2A_ENST00000369145.1_Silent_p.F361F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	361					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCACCTCTAGGAAGAAACGGG	0.607000													3	15					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646082	52646082	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:52646082G>A	ENST00000399231.3	-	26	3796	c.3553C>T	c.(3553-3555)Cgc>Tgc	p.R1185C	MYO5A_ENST00000356338.6_Missense_Mutation_p.R1185C|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1185C|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1185C|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1185C	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1185					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCTTGCTGCGGAGCACCTGC	0.577000													29	69					0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133675	118133675	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:118133675G>A	ENST00000278937.2	-	2	324	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	MPZL2_ENST00000438295.2_Missense_Mutation_p.R66C|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	66	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCTAGAGGACGAAAATTCCAG	0.468000													34	89					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399792	89399792	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:89399792G>A	ENST00000479981.1	-	0	62																											AGAGCAGCAGGAGCCCCAGGA	0.512000													23	76					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876120	38876120	+	Nonsense_Mutation	SNP	G	G	T	rs141370671		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:38876120G>T	ENST00000334928.6	-	3	1914	c.1782C>A	c.(1780-1782)tgC>tgA	p.C594*	GGN_ENST00000591809.1_5'UTR	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	594	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTAACACTTGCAGGGACAGG	0.672000													10	33					0.010729	0.0107498	1	1	0
ZCCHC18	644353	broad.mit.edu	37	X	103359063	103359063	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:103359063G>A	ENST00000537356.2	+	1	261	c.261G>A	c.(259-261)atG>atA	p.M87I	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	87							nucleic acid binding|zinc ion binding										AGCGCTTGATGAAAACACTTA	0.512000													20	44					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267040	124267040	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:124267040C>T	ENST00000354597.3	-	1	224	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAACAGAGATCAATGAAGGAG	0.388000													14	38					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147790301	147790301	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:147790301G>A	ENST00000340253.5	+	9	1234	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	FBXO38_ENST00000394370.3_Missense_Mutation_p.G356R|FBXO38_ENST00000296701.6_Missense_Mutation_p.G356R|FBXO38_ENST00000513826.1_Missense_Mutation_p.G356R			Q6PIJ6	FBX38_HUMAN	F-box protein 38	356						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCATCTAGGATATGTAGA	0.383000													14	66					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125627312	125627312	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:125627312A>G	ENST00000431078.1	+	21	3770	c.3406A>G	c.(3406-3408)Agg>Ggg	p.R1136G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1136	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGGGTTATAAGGTCACTCAC	0.413000													5	11					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837539	99837539	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:99837539C>T	ENST00000547776.2	-	11	1486	c.1487G>A	c.(1486-1488)aGa>aAa	p.R496K	ANKS1B_ENST00000547010.1_Missense_Mutation_p.R76K|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R496K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	496						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGAGCTGTTTCTATGGTTACT	0.428000													16	58					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377752	113377752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:113377752G>A	ENST00000316407.4	-	7	3187	c.2777C>T	c.(2776-2778)cCa>cTa	p.P926L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P926L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	926					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACTACTTGGTGGTTTATC	0.423000													20	105					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927110	31927110	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:31927110C>T	ENST00000300870.10	+	4	1749	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	514					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCGGAAAATTCATACTGGAGA	0.358000													9	35					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148106514	148106514	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:148106514A>C	ENST00000361727.3	+	23	4263	c.3747A>C	c.(3745-3747)caA>caC	p.Q1249H	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.Q308H|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1249					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCCAGGACAAGGCCAAGCTA	0.408000										HNSCC(39;0.1)			8	34					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70300527	70300527	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:70300527G>A	ENST00000310961.5	+	7	884	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.E189K|LRRC7_ENST00000035383.5_Missense_Mutation_p.E151K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	151						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGCCTTTCTTGAATTTCTTCC	0.383000													6	66					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481750	95481750	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:95481750C>T	ENST00000432432.2	-	0	1610					NR_040113.1																						TTATGAAAATCCTAAATAAAA	0.303000													9	40					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68620305	68620305	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:68620305G>A	ENST00000234313.7	+	7	953	c.774G>A	c.(772-774)agG>agA	p.R258R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	258	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGCATAGAAGGAAAAACTGGA	0.428000													43	107					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526881	64526881	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:64526881G>A	ENST00000498707.1	-	36	5753	c.5411C>T	c.(5410-5412)cCc>cTc	p.P1804L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1776L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1804	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCGTTATAGGGACATTCTGT	0.483000													20	84					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40945466	40945466	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:40945466G>A	ENST00000313164.9	+	7	1093	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	245	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCCATAAAGGAAAGGTTAGT	0.318000													6	14					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810245	68810245	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:68810245C>T	ENST00000508048.1	-	3	276	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.E82K|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.E82K|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	82	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACCAAATTTTCGGTCGTCTCT	0.343000													4	69					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47355259	47355259	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:47355259G>A	ENST00000399249.2	-	28	3093	c.3039C>T	c.(3037-3039)ccC>ccT	p.P1013P	MYBPC3_ENST00000256993.4_Silent_p.P1012P|MYBPC3_ENST00000545968.1_Silent_p.P1013P			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1012	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGCCTGCCAGGGGCTGCCCCT	0.652000													7	36					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9730737	9730737	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:9730737C>T	ENST00000296003.4	+	16	1526	c.1404C>T	c.(1402-1404)gtC>gtT	p.V468V	MTMR14_ENST00000351233.5_Silent_p.V468V|MTMR14_ENST00000420925.1_Silent_p.V222V|MTMR14_ENST00000353332.5_Silent_p.V468V	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	468						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGGAGCTGGTCCCAGCAGGAG	0.647000													12	55					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595254	216595254	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:216595254G>A	ENST00000366943.2	-	2	811	c.425C>T	c.(424-426)cCa>cTa	p.P142L	USH2A_ENST00000366942.3_Missense_Mutation_p.P142L|USH2A_ENST00000307340.3_Missense_Mutation_p.P142L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	142					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATCAGCTTTGGAGAAGGAGG	0.413000										HNSCC(13;0.011)			11	73					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755706	21755706	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:21755706G>A	ENST00000382254.1	-	14	2965	c.1879C>T	c.(1879-1881)Ctc>Ttc	p.L627F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.L587F|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.L627F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	627					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAACCTAAGAGTATAACAATG	0.393000										HNSCC(59;0.17)			10	27					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061268	73061268	+	RNA	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:73061268A>G	ENST00000429829.1	-	0	11320					NR_001564.2																						AGGAGCTAGTAGGGCAAACTG	0.393000													8	39					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37309276	37309276	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:37309276T>A	ENST00000231498.3	-	24	2925	c.2722A>T	c.(2722-2724)Agc>Tgc	p.S908C	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.S844C|NUP155_ENST00000381843.2_Missense_Mutation_p.S849C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	908					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTGATTGCTAATTTTTTGA	0.338000													7	29					0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836649	142836649	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142836649G>A	ENST00000291009.3	+	4	395	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	119						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGTTATTCGGGAATTAGGCAT	0.453000													27	107					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048610	6048610	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:6048610A>G	ENST00000316650.5	-	1	361	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATGATGAACATCTGGAGG	0.547000													16	59					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833922	160833922	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:160833922G>A	ENST00000283243.7	-	15	2480	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	PLA2R1_ENST00000392771.1_Silent_p.V758V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	758	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAACGAAGAGACAACCTGCA	0.393000													12	39					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3829379	3829379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:3829379G>A	ENST00000324333.10	-	9	2315	c.2122C>T	c.(2122-2124)Cct>Tct	p.P708S	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.P863S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	708					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATGGATGTAGGGACTAGGCAG	0.537000													7	44					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067261	190067261	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:190067261G>A	ENST00000367462.3	-	8	2419	c.2188C>T	c.(2188-2190)Cat>Tat	p.H730Y	FAM5C_ENST00000534846.1_Missense_Mutation_p.H628Y|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		730						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGAGTCTATGACGAAGCAAG	0.458000													17	69					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269216	1269216	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:1269216G>A	ENST00000447027.1	+	31	11173	c.11115G>A	c.(11113-11115)acG>acA	p.T3705T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3702T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3702	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACTGAGTCCA	0.667000													52	277					0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449102	16449102	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:16449102G>A	ENST00000252835.4	-	1	703	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TTCAGGACAAGAGTATAGGAT	0.418000													75	120					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281175	152281175	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152281175C>T	ENST00000368799.1	-	3	6222	c.6187G>A	c.(6187-6189)Gga>Aga	p.G2063R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2063	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCTTTTCCCTGTGCTGAC	0.567000									Ichthyosis				100	325					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112506481	112506481	+	Silent	SNP	C	C	T	rs147069572		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:112506481C>T	ENST00000230538.7	-	9	1432	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	LAMA4_ENST00000424408.2_Silent_p.T338T|LAMA4_ENST00000389463.4_Silent_p.T338T|LAMA4_ENST00000522006.1_Silent_p.T338T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	345	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGCTTTTCATCGTGTTCTCAG	0.373000													21	91					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646083	52646083	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:52646083G>A	ENST00000399231.3	-	26	3795	c.3552C>T	c.(3550-3552)ctC>ctT	p.L1184L	MYO5A_ENST00000356338.6_Silent_p.L1184L|MYO5A_ENST00000399233.2_Silent_p.L1184L|MYO5A_ENST00000358212.6_Silent_p.L1184L|MYO5A_ENST00000553916.1_Silent_p.L1184L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1184					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTTGCTGCGGAGCACCTGCT	0.572000													29	69					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124821423	124821423	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:124821423C>T	ENST00000356219.3	-	39	6167	c.6012G>A	c.(6010-6012)aaG>aaA	p.K2004K	NCOR2_ENST00000429285.2_Silent_p.K1987K|NCOR2_ENST00000405201.1_Silent_p.K1997K|NCOR2_ENST00000404621.1_Silent_p.K1987K|NCOR2_ENST00000404121.2_Silent_p.K1558K|NCOR2_ENST00000397355.1_Silent_p.K1988K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2008					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGCGAGGTTCTTCGCAGGGG	0.706000													4	31					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50388358	50388358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:50388358G>A	ENST00000394688.3	-	4	583	c.424C>T	c.(424-426)Caa>Taa	p.Q142*	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Nonsense_Mutation_p.Q142*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	142					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTCATCAGTTGATTCAAAGCT	0.323000													14	19					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	17					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123286316	123286316	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:123286316C>T	ENST00000253079.6	+	9	1967	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	CCDC62_ENST00000392440.2_Silent_p.S302S|CCDC62_ENST00000392441.4_Silent_p.S541S|CCDC62_ENST00000537566.1_Silent_p.S302S	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	541						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TCAAGCCTTCCAAAATGCAGA	0.502000													51	176					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45228242	45228242	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:45228242C>T	ENST00000372217.1	+	18	2072	c.1721C>T	c.(1720-1722)tCt>tTt	p.S574F	KIF2C_ENST00000372222.3_Missense_Mutation_p.S515F|KIF2C_ENST00000372224.4_Missense_Mutation_p.S628F|KIF2C_ENST00000372218.4_Missense_Mutation_p.S587F|RP11-269F19.2_ENST00000428791.1_RNA			Q99661	KIF2C_HUMAN	kinesin family member 2C	628					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAGGAACTGTCTTCCCAGATG	0.517000													10	24					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798702	12798702	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:12798702G>A	ENST00000381774.4	-	3	734	c.494C>T	c.(493-495)tCc>tTc	p.S165F	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	165							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GTAGAACTGGGAGTTGAGGAC	0.632000													18	62					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485498	118485498	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:118485498C>T	ENST00000311085.8	+	18	4056	c.3976C>T	c.(3976-3978)Cat>Tat	p.H1326Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.H1326Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1326										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACCTCAGTATCATCCCTTGCA	0.458000													8	36					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64607881	64607881	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:64607881G>A	ENST00000498707.1	-	18	3021	c.2679C>T	c.(2677-2679)ccC>ccT	p.P893P	ADAMTS9_ENST00000295903.4_Silent_p.P865P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	893	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TACCTTGGCAGGGTTTACTGC	0.368000													5	43					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	130					0	0	1	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27113474	27113474	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:27113474C>T	ENST00000229395.3	+	5	765	c.423C>T	c.(421-423)tcC>tcT	p.S141S	FGFR1OP2_ENST00000327214.5_Intron|FGFR1OP2_ENST00000546072.1_Silent_p.S141S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	141						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GTAACAAGTCCGAAGGATTCT	0.373000													4	34					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31189098	31189098	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:31189098G>T	ENST00000349752.5	-	3	1009	c.370C>A	c.(370-372)Cgc>Agc	p.R124S	GALNT14_ENST00000324589.5_Missense_Mutation_p.R129S|GALNT14_ENST00000420311.2_Missense_Mutation_p.R89S|GALNT14_ENST00000406653.1_Missense_Mutation_p.R104S|GALNT14_ENST00000356174.3_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	124	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGCGTGGAGCGGGCCTCGTTG	0.592000													7	30					1.06961e-07	1.08006e-07	1	1	0
FAM114A1	92689	broad.mit.edu	37	4	38942624	38942624	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:38942624C>T	ENST00000358869.2	+	14	1748	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	FAM114A1_ENST00000515037.1_Silent_p.I317I	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	524						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCCATGATCAGTAGTGTAT	0.403000													7	33					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947432	145947432	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:145947432G>A	ENST00000292562.7	-	5	1888	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTCTCCAGTGGGAATCTGTCC	0.478000													6	83					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232557	5232557	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:5232557C>A	ENST00000274181.7	+	12	1916	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	593	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCGGACTGGTCTTCTTGGTCC	0.537000													31	69					6.00712e-18	6.10154e-18	1	1	0
C3	718	broad.mit.edu	37	19	6680264	6680264	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:6680264G>C	ENST00000245907.6	-	36	4453	c.4361C>G	c.(4360-4362)tCt>tGt	p.S1454C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1454	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTCATCCTCAGAGTGTGAGAC	0.517000													3	55					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087528	47087528	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:47087528C>T	ENST00000374312.1	+	3	1164	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	NPY4R_ENST00000395716.1_Missense_Mutation_p.H249Y	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GCGCGTGTTTCACAAGGGCAC	0.602000													13	202					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749104	30749104	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:30749104C>T	ENST00000262518.4	+	34	8128	c.7743C>T	c.(7741-7743)ccC>ccT	p.P2581P	SRCAP_ENST00000344771.4_Silent_p.P2423P|SRCAP_ENST00000395059.2_Silent_p.P2519P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2581	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCTTGTGCCCCCTAAAGATC	0.572000													9	41					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38271542	38271542	+	Splice_Site	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:38271542C>T	ENST00000447712.2	-	17	3128		c.e17-1		FGFR1_ENST00000532791.1_Splice_Site|FGFR1_ENST00000397091.5_Splice_Site|FGFR1_ENST00000326324.6_Splice_Site|FGFR1_ENST00000425967.3_Splice_Site|FGFR1_ENST00000397103.1_Splice_Site|FGFR1_ENST00000356207.5_Splice_Site|FGFR1_ENST00000397108.4_Splice_Site|FGFR1_ENST00000341462.5_Splice_Site|FGFR1_ENST00000335922.5_Splice_Site|FGFR1_ENST00000397113.2_Splice_Site	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1						axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CATCATGTACCTGCGGCAGGA	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						3	18					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920469	134920469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:134920469G>A	ENST00000398015.3	+	12	2654	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	EPHB1_ENST00000493838.1_Missense_Mutation_p.D323N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	762	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAAGGTGTCCGACTTTGGCCT	0.537000													25	94					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17927343	17927343	+	Silent	SNP	G	G	A	rs138662754	by1000genomes	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:17927343G>A	ENST00000262097.6	-	4	572	c.261C>T	c.(259-261)ttC>ttT	p.F87F	ASAH1_ENST00000314146.10_Intron|ASAH1_ENST00000520781.1_Silent_p.F87F|ASAH1_ENST00000381733.4_Silent_p.F103F|ASAH1_ENST00000417108.2_Silent_p.F22F	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	87					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CACTTGGCACGAATGTATTTA	0.294000													9	27					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130658597	130658597	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:130658597G>A	ENST00000373146.1	-	3	220	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.S14F|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.S14F|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	14					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGGGGCAGGGATGTGGGTTC	0.557000													16	45					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265590	3265590	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:3265590C>T	ENST00000576468.1	+	0	418																											TCACTGTCTTCTATGCAGCTG	0.488000													4	11					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335167	78335167	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:78335167G>T	ENST00000466548.1	+	7	1579	c.1553G>T	c.(1552-1554)cGc>cTc	p.R518L	SLAIN1_ENST00000267219.8_Missense_Mutation_p.R299L|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R376L|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R255L|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R299L|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R255L|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R141L	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	518										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		ATAATGGGTCGCAGTGCACTC	0.468000													13	64					3.27435e-08	3.3128e-08	1	1	0
SLC6A7	6534	broad.mit.edu	37	5	149583514	149583514	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:149583514C>T	ENST00000230671.2	+	10	1616	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	SLC6A7_ENST00000524041.1_Silent_p.F415F	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	415						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CAGATGAGTTCCCATACTACC	0.552000													11	30					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751445	26751445	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:26751445C>A	ENST00000396641.2	+	2	874	c.282C>A	c.(280-282)aaC>aaA	p.N94K	LRRC3B_ENST00000456208.2_Missense_Mutation_p.N94K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.N94K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	94						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAGTTCTCAACCTGTCCAAAA	0.423000													8	35					5.18039e-06	5.22078e-06	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44556885	44556885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:44556885G>A	ENST00000289547.4	-	16	3344	c.3289C>T	c.(3289-3291)Cga>Tga	p.R1097*	NPC1L1_ENST00000381160.3_Nonsense_Mutation_p.R1070*|NPC1L1_ENST00000546276.1_Nonsense_Mutation_p.R1024*	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1097					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCCAGCTCTCGAGCTGCCCGC	0.572000													22	80					0	0	1	0	0
DSCR9	257203	broad.mit.edu	37	21	38593668	38593668	+	RNA	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:38593668A>G	ENST00000454482.2	+	0	1275					NR_026719.2																						GACCACGCCTACAGCCGAAGA	0.657000													14	45					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17710574	17710574	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:17710574C>T	ENST00000380060.3	+	3	1176	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	NHS_ENST00000398097.3_Missense_Mutation_p.R103C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	280						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTTTAAGGACCGTCACTTTTT	0.562000													16	54					0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576630	115576630	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:115576630C>T	ENST00000256592.1	+	3	267	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	TSHB_ENST00000369517.1_Silent_p.L67L	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	67					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CAAATATGCTCTGTCCCAGGA	0.408000													28	107					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967519	4967519	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:4967519G>A	ENST00000380373.2	-	1	837	c.812C>T	c.(811-813)cCc>cTc	p.P271L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTAATGAGGGGAGAGACATG	0.448000													19	90					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938086	169938086	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:169938086G>A	ENST00000432060.2	+	2	245	c.175G>A	c.(175-177)Gga>Aga	p.G59R	DHRS9_ENST00000357546.2_5'UTR|DHRS9_ENST00000421653.1_Intron|DHRS9_ENST00000428522.1_5'UTR|DHRS9_ENST00000412271.1_5'UTR|DHRS9_ENST00000436483.2_5'UTR|DHRS9_ENST00000602501.1_5'UTR|DHRS9_ENST00000327239.4_5'UTR			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACACACAGGGGGAAAAATGCT	0.388000													10	28					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192336	152192336	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152192336C>T	ENST00000368801.2	-	3	1844	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	590					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGAGCGAGACTCTTG	0.557000													8	377					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50342356	50342356	+	Splice_Site	SNP	A	A	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:50342356A>T	ENST00000338821.5	-	3	592		c.e3+1		ATP9A_ENST00000311637.5_Splice_Site|ATP9A_ENST00000402822.1_Splice_Site	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGATTAACTTACCAGGGGAAC	0.418000													10	51					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128626749	128626749	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:128626749T>C	ENST00000335251.5	+	11	1673	c.1570T>C	c.(1570-1572)Tat>Cat	p.Y524H	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	524										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATTCAAGGGTTATTTGATATG	0.378000													8	61					0	0	1	0	0
EIF2A	83939	broad.mit.edu	37	3	150293442	150293442	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:150293442G>A	ENST00000460851.1	+	11	1499	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	EIF2A_ENST00000273435.5_Missense_Mutation_p.E459K|EIF2A_ENST00000487799.1_Missense_Mutation_p.E439K|EIF2A_ENST00000383043.3_Missense_Mutation_p.E250K|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.E403K|EIF2A_ENST00000482471.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	464					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATAGCATGAAGAGGAACCACC	0.333000													3	21					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52258559	52258559	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:52258559G>A	ENST00000321600.1	+	1	170	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	DYNAP_ENST00000585973.1_Missense_Mutation_p.E45K	NM_173629.1	NP_775900.1			dynactin associated protein																		TGAGCACTCTGAAAACCAGCC	0.358000													11	94					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713295	30713295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:30713295G>A	ENST00000295754.5	+	4	1002	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R232Q	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	207					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGCAAGACGCGGAAGCTCATG	0.537000													9	23					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48717534	48717534	+	Silent	SNP	C	C	T	rs36096532		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:48717534C>T	ENST00000294129.2	-	6	1340	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	NCKIPSD_ENST00000341520.4_Silent_p.E407E|NCKIPSD_ENST00000416649.2_Silent_p.E400E	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	407					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATGACACCCTCATCCTCAT	0.602000													15	53					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661245	4661245	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:4661245C>A	ENST00000357605.2	+	1	301	c.225C>A	c.(223-225)ttC>ttA	p.F75L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACCTCTTCCTGGCCATGC	0.517000													10	48					2.17888e-05	2.18734e-05	1	1	0
USP25	29761	broad.mit.edu	37	21	17199325	17199325	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:17199325C>T	ENST00000285681.2	+	14	1865	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	USP25_ENST00000285679.6_Missense_Mutation_p.S499L|USP25_ENST00000400183.2_Missense_Mutation_p.S499L|USP25_ENST00000351097.5_Intron			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	499					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCCCTATCTTCAGAACTGCCA	0.433000													12	63					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62547926	62547926	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:62547926A>T	ENST00000448257.2	+	5	628	c.427A>T	c.(427-429)Aaa>Taa	p.K143*	CDK1_ENST00000316629.4_Intron|CDK1_ENST00000373809.2_Intron|CDK1_ENST00000395284.3_Nonsense_Mutation_p.K143*			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	143	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						AGGAACAATTAAACTGGCTGA	0.383000													8	55					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943459	1943459	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:1943459A>T	ENST00000543818.1	+	5	1527	c.685A>T	c.(685-687)Acc>Tcc	p.T229S	LRTM2_ENST00000299194.1_Missense_Mutation_p.T229S|LRTM2_ENST00000535041.1_Missense_Mutation_p.T229S|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	229	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTTGCCTGCACCCTGCCCAA	0.592000													4	29					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461906	50461906	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:50461906C>T	ENST00000447370.2	-	7	1447	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V453M	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	453					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCACAGTGCACGGAGAGGCTG	0.652000													19	69					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466380	114466380	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:114466380C>T	ENST00000513154.1	-	9	2031	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	TRIM36_ENST00000514154.1_Missense_Mutation_p.E426K|TRIM36_ENST00000282369.3_Missense_Mutation_p.E581K			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	581	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAATATGGTTCCACACGGAAG	0.453000													32	66					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632310	156632310	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:156632310C>T	ENST00000296518.7	+	6	1202	c.993C>T	c.(991-993)atC>atT	p.I331I	GUCY1A3_ENST00000506455.1_Silent_p.I331I|GUCY1A3_ENST00000455639.2_Silent_p.I331I|GUCY1A3_ENST00000513574.1_Silent_p.I331I|GUCY1A3_ENST00000511108.1_Silent_p.I331I|GUCY1A3_ENST00000393832.3_Silent_p.I73I|GUCY1A3_ENST00000511507.1_Silent_p.I331I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	331					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTCCAAAAATCAACCAGACGT	0.398000													9	33					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752614	247752614	+	Splice_Site	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:247752614G>A	ENST00000320065.1	+	1	953	c.951_splice	c.e1+1	p.*318_splice	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			aatattttatgattattaaaa	0.323000													5	40					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123954588	123954588	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:123954588G>A	ENST00000369005.1	+	8	6208	c.5868G>A	c.(5866-5868)ccG>ccA	p.P1956P	TACC2_ENST00000260733.3_Silent_p.P34P|TACC2_ENST00000360561.3_Silent_p.P34P|TACC2_ENST00000515603.1_Silent_p.P1911P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000515273.1_Silent_p.P1960P|TACC2_ENST00000513429.1_Silent_p.P102P|TACC2_ENST00000369004.3_Silent_p.P34P|TACC2_ENST00000334433.3_Silent_p.P1956P|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Silent_p.P1960P|TACC2_ENST00000358010.1_Silent_p.P102P|TACC2_ENST00000368999.1_Silent_p.P34P|TACC2_ENST00000369000.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1956	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTGAGACCCCGGAGTCAACGA	0.617000													32	95					0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143747187	143747187	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:143747187G>A	ENST00000507178.2	-	0	623									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				gcttccccaggaaccactcgt	0.652000													18	11					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998973	173998973	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:173998973T>G	ENST00000457714.1	+	7	2781	c.2352T>G	c.(2350-2352)atT>atG	p.I784M	NLGN1_ENST00000401917.3_Missense_Mutation_p.I824M|NLGN1_ENST00000545397.1_Missense_Mutation_p.I784M|NLGN1_ENST00000361589.4_Missense_Mutation_p.I784M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	801					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTACAATGATTCCCAACACTA	0.493000													17	67					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171702028	171702028	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:171702028C>G	ENST00000358196.3	+	8	1314	c.764C>G	c.(763-765)tCc>tGc	p.S255C		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	255					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCGCCATATCCAACATGTAC	0.502000													43	83					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201052336	201052336	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:201052336G>A	ENST00000362061.3	-	10	1573	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	CACNA1S_ENST00000367338.3_Silent_p.I449I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	449					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCTCTGAGGCGATAGACAGGG	0.562000													29	59					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823944	70823944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:70823944G>A	ENST00000373695.1	+	7	1354	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	ACRC_ENST00000373696.3_Missense_Mutation_p.E273K			Q96QF7	ACRC_HUMAN	acidic repeat containing	273	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGATGATTCGGAAGCTCCCGA	0.552000													13	312					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318009	30318009	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:30318009G>A	ENST00000375377.1	-	3	1169	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	356	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTCCAAGTAGGGGTTTGGGA	0.607000													33	138					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5632384	5632384	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:5632384A>C	ENST00000380097.3	+	8	1605	c.1363A>C	c.(1363-1365)Aca>Cca	p.T455P	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000445329.1_Missense_Mutation_p.T252P|TRIM6_ENST00000515022.1_Missense_Mutation_p.T252P|TRIM6_ENST00000278302.5_Missense_Mutation_p.T427P|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_Missense_Mutation_p.T401P|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.T252P|TRIM6_ENST00000506134.1_Missense_Mutation_p.T252P	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCTCTCCATGACAGTGCCCCC	0.483000													27	92					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058192	81058192	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:81058192C>T	ENST00000334512.5	+	15	2093	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	507	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)			TGGCAAATTACCCCCACTCAC	0.587000													38	166					0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183960120	183960120	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:183960120C>T	ENST00000502308.1	+	0	1303					NR_003612.1																						TTATTCATCTCGTTTAGATAT	0.378000													3	16					0	0	1	0	0
TRBV27	28560	broad.mit.edu	37	7	142423688	142423688	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142423688C>T	ENST00000506718.1	+	0	696				TRBV27_ENST00000390399.3_RNA																							AGCAGTTTATCCACAGTGTTG	0.537000													9	25					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157049721	157049721	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:157049721C>T	ENST00000348165.5	+	22	3424	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1022	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTCTCGACCCCCTCTCTTGGG	0.418000													21	61					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406622	55406622	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:55406622C>T	ENST00000314612.2	+	1	789	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCACAACATTCTCAGAAGATA	0.418000													25	68					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86189127	86189127	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:86189127G>A	ENST00000394518.2	+	10	4411	c.4316G>A	c.(4315-4317)aGt>aAt	p.S1439N	AKAP13_ENST00000361243.2_Missense_Mutation_p.S1439N|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1439					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAATCTGGGAGTGATTCTGAC	0.428000													41	62					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48895921	48895921	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:48895921G>A	ENST00000315869.7	-	4	840	c.581C>T	c.(580-582)gCg>gTg	p.A194V	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	194					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGCCGGCGCGCCTGCTGCAG	0.627000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								3	18					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216515	20216515	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20216515C>T	ENST00000331723.1	+	1	929	c.929C>T	c.(928-930)cCa>cTa	p.P310L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCATTCCATTGCCTTGT	0.393000													11	40					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107520049	107520049	+	Missense_Mutation	SNP	A	A	T	rs147247035		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:107520049A>T	ENST00000415149.2	+	16	2896	c.2569A>T	c.(2569-2571)Act>Tct	p.T857S	BBX_ENST00000416476.2_Silent_p.V550V|BBX_ENST00000325805.8_Missense_Mutation_p.T887S|BBX_ENST00000402543.1_Missense_Mutation_p.T837S|BBX_ENST00000406780.1_Missense_Mutation_p.T857S	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCGGAGCAGTACTCCAGAAAT	0.537000													13	36					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821067	206821067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:206821067C>T	ENST00000367106.1	+	4	937	c.464C>T	c.(463-465)gCc>gTc	p.A155V	DYRK3_ENST00000367109.2_Missense_Mutation_p.A175V|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.A155V			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	175					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A175V(1)|p.A140V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTCCAAATGCCAAGAAAAGA	0.408000													31	112					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21069510	21069510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:21069510C>T	ENST00000261383.3	-	27	3820	c.3821G>A	c.(3820-3822)cGa>cAa	p.R1274Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1274Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1274	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTGATTTCGAGGGACCTG	0.507000													5	42					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:59283138C>T	ENST00000329328.3	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000													58	212					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	G	A	rs3917742	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:169578921G>A	ENST00000263686.6	-	8	1191	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000458599.2_Missense_Mutation_p.S323L|SELP_ENST00000367786.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.S323L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000													14	25					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80762760	80762760	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:80762760C>T	ENST00000533983.1	+	5	702	c.363C>T	c.(361-363)ttC>ttT	p.F121F	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Silent_p.F121F|ARNT2_ENST00000303329.4_Silent_p.F132F			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	132					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGCCTTCCTTCCTCACAGAGC	0.567000													9	64					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821949	43821949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:43821949C>T	ENST00000382031.1	+	6	8882	c.8851C>T	c.(8851-8853)Cgt>Tgt	p.R2951C	MAP1A_ENST00000399453.1_Missense_Mutation_p.R2713C|MAP1A_ENST00000300231.5_Missense_Mutation_p.R2713C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2713						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R2713S(1)		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)	TGACTTCTTCCGTCGAGTGCG	0.587000													17	64					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671037	28671037	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:28671037G>A	ENST00000280904.6	-	4	871	c.428C>T	c.(427-429)tCg>tTg	p.S143L	DSC2_ENST00000251081.6_Missense_Mutation_p.S143L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	143	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTAGCATCGAACAAGGAAT	0.398000													4	34					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911437	139911437	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:139911437G>A	ENST00000265662.5	-	19	2840	c.2693C>T	c.(2692-2694)aCc>aTc	p.T898I	ABCA2_ENST00000371605.3_Missense_Mutation_p.T897I|ABCA2_ENST00000341511.6_Missense_Mutation_p.T898I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	897					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CATCAGCATGGTGACAGCCAG	0.627000													19	60					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324247	161324247	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:161324247C>T	ENST00000428797.2	+	11	1545	c.1190C>T	c.(1189-1191)cCt>cTt	p.P397L	GABRA1_ENST00000444819.1_Missense_Mutation_p.P397L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P397L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P397L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P397L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P397L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACCATAGAACCTAAAGAGGTC	0.483000													31	103					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60976501	60976501	+	Missense_Mutation	SNP	G	G	A	rs146737847	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:60976501G>A	ENST00000327720.5	+	1	833	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	129					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TTGGGACGGCGAACAGAAGAC	0.592000													8	21					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139140	90139140	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:90139140C>T	ENST00000492446.1	+	0	63																											TCCTGGGGCTCCTGCTGCTCT	0.512000													12	189					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471015	31471015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:31471015G>A	ENST00000457010.2	+	1	871	c.170G>A	c.(169-171)gGa>gAa	p.G57E	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Missense_Mutation_p.G57E|ARMC5_ENST00000538189.1_Missense_Mutation_p.G89E|ARMC5_ENST00000268314.4_Missense_Mutation_p.G57E|ARMC5_ENST00000408912.3_Missense_Mutation_p.G152E	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	57							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCAGCGGGGGGAATCGAGCGC	0.746000													6	13					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995563	140995563	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:140995563C>T	ENST00000285879.4	+	4	2659	c.2373C>T	c.(2371-2373)ctC>ctT	p.L791L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	791							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTCTTCTCCAAAGTTCCC	0.572000										HNSCC(15;0.026)			57	217					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:77288529C>T	ENST00000388914.3	-	11	1900	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	583								p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458000													7	45					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661241	8661241	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:8661241C>T	ENST00000270328.4	-	9	1406	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ADAMTS10_ENST00000597188.1_Silent_p.E380E			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	380	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCCAATGTCCTCATTGACGC	0.667000													12	12					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891314	29891314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:29891314G>A	ENST00000308713.5	-	9	1971	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R368C|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R438C|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R412C	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	482	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCTGGGCGATACTCAGGG	0.587000													20	75					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30326527	30326527	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:30326527C>T	ENST00000378970.4	-	1	1188	c.954G>A	c.(952-954)caG>caA	p.Q318Q	NR0B1_ENST00000378963.1_Silent_p.Q23Q|NR0B1_ENST00000453287.1_Silent_p.Q318Q	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	318	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGAGGATCTTCTGCAGCATGC	0.672000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	25					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436043	158436043	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:158436043C>T	ENST00000289451.2	+	1	772	c.692C>T	c.(691-693)tCc>tTc	p.S231F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCCCTTCCTCCGTTGGAAGA	0.453000													14	56					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515211	28515211	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:28515211C>T	ENST00000356897.1	-	2	214	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	64					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						AGCGGTGGGCCTGGCCCCGAA	0.672000													9	51					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664166	22664166	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:22664166G>A	ENST00000426066.1	+	0	689					NR_027293.1																						CTGTCAGTGGGATAAGGGGGC	0.473000													5	117					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626658	142626658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142626658G>A	ENST00000265310.1	-	4	700	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.Q118*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	118					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGTGCAGTCTGACCTGGCCCA	0.602000													18	75					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410669	5410669	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:5410669T>G	ENST00000328611.3	+	1	63	c.41T>G	c.(40-42)cTa>cGa	p.L14R	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	14						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATGCTGCTATCCAACATT	0.398000													32	104					0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659542	63659542	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:63659542G>A	ENST00000523211.1	+	4	457	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.E109K	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	109						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATGGTGGAGAGAACATGGGCC	0.478000													3	24					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607531	61607531	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:61607531C>T	ENST00000583023.1	+	3	398	c.387C>T	c.(385-387)ttC>ttT	p.F129F	KCNH6_ENST00000580652.1_Silent_p.F129F|KCNH6_ENST00000456941.2_Silent_p.F129F|KCNH6_ENST00000314672.5_Silent_p.F129F|KCNH6_ENST00000581784.1_Silent_p.F129F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	129	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTCTCAACTTCGAGGACCTGG	0.617000													21	53					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649816	69649816	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:69649816G>A	ENST00000453994.2	+	12	1571	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	GDPD2_ENST00000538649.1_Missense_Mutation_p.G325R|GDPD2_ENST00000536730.1_Missense_Mutation_p.G325R|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Missense_Mutation_p.G404R	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	404	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ACGGGCACCTGGAATGCGCCA	0.522000													10	43					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49649426	49649426	+	Splice_Site	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:49649426T>C	ENST00000492622.2	+	3	406	c.99_splice	c.e3-1	p.V34_splice	FNDC3A_ENST00000541916.1_Splice_Site_p.V34_splice	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	34						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATTTTTAAGGTTATTCTGGTA	0.303000													27	75					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	50					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107494	133107494	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:133107494G>A	ENST00000368642.4	-	2	496	c.411C>T	c.(409-411)gtC>gtT	p.V137V		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	137										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GATGTGGGAAGACGGGCACCA	0.498000													23	40					0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110084296	110084296	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:110084296G>A	ENST00000358015.3	+	7	1065	c.714G>A	c.(712-714)gtG>gtA	p.V238V	RAD23B_ENST00000416373.2_Silent_p.V166V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	238					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GTCAGGCTGTGGTTGACCCCC	0.443000								Direct reversal of damage;Nucleotide excision repair (NER)					11	23					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885527	60885527	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:60885527G>A	ENST00000252999.3	-	76	10614	c.10548C>T	c.(10546-10548)ggC>ggT	p.G3516G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3516					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCCAGGGGGCCCAAGATGC	0.682000													11	75					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663588	103663588	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:103663588G>A	ENST00000395884.3	-	3	1841	c.939C>T	c.(937-939)ccC>ccT	p.P313P	KLF10_ENST00000285407.6_Silent_p.P324P	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	324					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TCTGCACAACGGGCTGGGGTA	0.597000													13	73					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755365	140755365	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140755365C>T	ENST00000517434.1	+	1	1715	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.S572F(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACGGTTCCACTGGCGTG	0.657000													75	247					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94930338	94930338	+	Missense_Mutation	SNP	G	G	A	rs142075958	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:94930338G>A	ENST00000370214.4	+	3	179	c.155G>A	c.(154-156)gGg>gAg	p.G52E	ABCD3_ENST00000315713.5_Missense_Mutation_p.G52E|ABCD3_ENST00000454898.2_Missense_Mutation_p.G76E|ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.G52E	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	52	Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CAGAAAGAGGGGAAAAAGGAG	0.353000													14	54					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650632	75650632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:75650632G>A	ENST00000361470.2	+	1	2587	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	770	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAAGAAAGGAATTCTGTAC	0.488000													17	62					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013495	133013495	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:133013495C>T	ENST00000367928.4	-	5	1068	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	352					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGTATAATTTCCTGCAACTCC	0.403000													21	48					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824193	54824193	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:54824193C>T	ENST00000243911.2	+	1	406	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	135					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCATCATGATCGCCATCGTCC	0.562000													14	49					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216300	20216300	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20216300C>T	ENST00000331723.1	+	1	714	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	238			F -> L (in dbSNP:rs12896533).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAAGGTCTTCTCTACCTGTG	0.473000													13	85					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479233	25479233	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:25479233G>A	ENST00000453082.2	+	0	1774					NR_003343.1																						GACTCGTGTTGGGCCCACAGG	0.587000													6	21					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44175970	44175970	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:44175970T>C	ENST00000417257.1	-	13	1242	c.1066A>G	c.(1066-1068)Acc>Gcc	p.T356A	FRMD5_ENST00000402883.1_Missense_Mutation_p.T356A|FRMD5_ENST00000484674.1_Missense_Mutation_p.T262A	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	356						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGGCCATGGGTTATGGAGGGA	0.527000													24	58					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73809246	73809246	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:73809246A>G	ENST00000293218.3	+	6	938	c.938A>G	c.(937-939)tAc>tGc	p.Y313C	UNK_ENST00000589666.1_Missense_Mutation_p.Y237C			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	237							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCCCTACTACCACAACAGC	0.642000													4	7					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340745	57340745	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:57340745G>A	ENST00000361249.3	+	3	391	c.295G>A	c.(295-297)Gat>Aat	p.D99N		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	99	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTGTGGACAGGATTTCCAGTG	0.478000													8	21					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473805	99473805	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:99473805C>T	ENST00000316368.2	-	1	875	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAGAGAATTCAATGTGGGCG	0.453000													25	80					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809486	18809486	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:18809486G>A	ENST00000400664.1	+	1	2063	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	671						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCACGGCCGAGATGGTGGC	0.697000													9	61					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271256	22271256	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:22271256G>A	ENST00000594947.1	+	4	848	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGAGTGTGGAAAAGCTTTT	0.413000													18	26					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96131359	96131359	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:96131359G>A	ENST00000467865.1	+	0	1767				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gcaCCAAGAGGATGGAGCCCA	0.542000			T	TRA@	T-ALL								5	6					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139732998	139732998	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:139732998C>T	ENST00000303045.6	-	27	2785	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G780E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	780	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGTTTTCCAGGCAGACC	0.473000										HNSCC(7;0.00092)			40	233					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422541	57422541	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:57422541C>T	ENST00000543257.1	-	4	702	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	C8B_ENST00000535057.1_Missense_Mutation_p.E36K|C8B_ENST00000371237.4_Missense_Mutation_p.E98K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	98					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTGCACGGTTCCCCATGGAAC	0.522000													40	121					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5798815	5798815	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:5798815C>T	ENST00000382674.2	+	14	2137	c.1953C>T	c.(1951-1953)ctC>ctT	p.L651L	EVC_ENST00000264956.6_Silent_p.L651L|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	651					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCTGGCACTCCGCGGCAACG	0.662000													6	47					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94409668	94409668	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:94409668T>A	ENST00000260731.3	+	20	2937	c.2847T>A	c.(2845-2847)gaT>gaA	p.D949E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	949					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTCCTTGATCAGCTGAAAA	0.373000													6	36					0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842709	35842709	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:35842709C>T	ENST00000246553.2	+	1	265	c.255C>T	c.(253-255)gcC>gcT	p.A85A		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	85					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TCGCGGTGGCCCACTTCTTCC	0.697000													4	9					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43619149	43619149	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:43619149C>T	ENST00000355710.3	+	17	3064	c.2832C>T	c.(2830-2832)atC>atT	p.I944I	RET_ENST00000340058.5_Silent_p.I944I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	944	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGTGGGAGATCGTGACCCTAG	0.607000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				38	142					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600773	147600773	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:147600773C>T	ENST00000361727.3	+	14	2731	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	739	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGCACAGATCCCAAGTACTA	0.567000										HNSCC(39;0.1)			4	9					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105178250	105178250	+	Splice_Site	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:105178250G>A	ENST00000428173.2	+	20	3619	c.3315_splice	c.e20-1	p.E1106_splice	NRK_ENST00000243300.9_Splice_Site_p.E1105_splice			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1105			P -> S (in dbSNP:rs35393519).				ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTCTTTTAGGAGCCAGGTGG	0.423000										HNSCC(51;0.14)			14	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059200	9059200	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:9059200G>A	ENST00000397910.4	-	3	28449	c.28246C>T	c.(28246-28248)Cct>Tct	p.P9416S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9418	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATCCTCAGGACCTCTGCTC	0.507000													33	76					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167319026	167319026	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:167319026C>T	ENST00000409855.1	-	9	1082	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	319					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACACATATCCTTCAGGACA	0.378000													6	20					0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3143989	3143989	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:3143989G>A	ENST00000531680.1	+	0	20					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		GATAACCAGAGTGAGAACTCA	0.453000													6	34					0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107007371	107007371	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:107007371C>T	ENST00000484422.1	+	0	220																											GTGTATCTTTCAGAGTGCAAG	0.453000													6	29					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873252	36873252	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:36873252G>A	ENST00000429976.2	-	21	7937	c.7690C>T	c.(7690-7692)Ccc>Tcc	p.P2564S	TRANK1_ENST00000301807.6_Missense_Mutation_p.P2014S|TRANK1_ENST00000428977.2_Missense_Mutation_p.P2014S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2564					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCCTCTCGGGAACCTGGCCA	0.582000													29	56					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895479	145895479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:145895479C>T	ENST00000311104.2	-	1	274	c.198G>A	c.(196-198)tgG>tgA	p.W66*		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	66						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTTCCTTTCCAAGCATTGT	0.542000													13	59					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610685	44610685	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:44610685C>T	ENST00000336976.6	+	6	626	c.372C>T	c.(370-372)ttC>ttT	p.F124F	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GCTCTCAGTTCTCCAAAGAAG	0.428000													18	46					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463396	26463396	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:26463396G>A	ENST00000265944.5	+	30	4369	c.4203G>A	c.(4201-4203)gaG>gaA	p.E1401E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1401					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E1401D(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAAACATGAGGAAATCAATA	0.358000													18	69					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74533264	74533264	+	Silent	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:74533264T>G	ENST00000437994.2	+	33	4625	c.4194T>G	c.(4192-4194)ccT>ccG	p.P1398P	CD109_ENST00000287097.5_Silent_p.P1415P|CD109_ENST00000422508.2_Silent_p.P1338P	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1415						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGCCGTCCTTGTGAGGATG	0.453000													18	64					0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660852	100660852	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:100660852C>T	ENST00000416321.1	-	1	5	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	1					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CCCCTGGCACCATAGCCCCGC	0.652000													17	57					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809386	18809386	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:18809386C>T	ENST00000400664.1	+	1	1963	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	637						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAATCTTCGTCACCGGCG	0.716000													20	11					0	0	1	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22930962	22930962	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:22930962C>T	ENST00000390302.2	+	0	215																											GGATTATGATCATGTCTTCTG	0.532000													165	236					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835764	82835764	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:82835764C>T	ENST00000265077.3	+	8	7507	c.6942C>T	c.(6940-6942)ctC>ctT	p.L2314L	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.L1327L|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2314	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGGACCACTCGTATCTCAAA	0.413000													40	65					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128859995	128859995	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:128859995C>T	ENST00000280333.6	+	23	2446	c.2337C>T	c.(2335-2337)atC>atT	p.I779I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	779					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCAGGTCCATCAATGACATGA	0.502000													3	5					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116048759	116048759	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:116048759G>A	ENST00000603594.1	+	12	1954	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	VWA2_ENST00000392982.3_Missense_Mutation_p.E545K	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	545	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTAGGGCCCGAGAATTTTGC	0.582000													15	50					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20926337	20926337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:20926337C>T	ENST00000380249.1	+	28	3363	c.2999C>T	c.(2998-3000)tCc>tTc	p.S1000F	FOCAD_ENST00000338382.6_Missense_Mutation_p.S1000F|FOCAD_ENST00000605086.1_Missense_Mutation_p.S436F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1000						integral to membrane	binding										GAGTGGGTTTCCATGGTACTT	0.333000													8	19					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701396	192701396	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:192701396G>A	ENST00000304141.4	-	2	860	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	177						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCACGGCACCGGAAACGGGCT	0.488000													6	34					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72038804	72038804	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:72038804C>T	ENST00000378743.3	-	4	1490	c.1132G>A	c.(1132-1134)Gct>Act	p.A378T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	378					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGAAGAGCCAAAAGGCGA	0.338000													6	18					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													9	134					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116130	42116130	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:42116130C>T	ENST00000457542.2	+	29	4370	c.4084C>T	c.(4084-4086)Ccc>Tcc	p.P1362S	MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1245S|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1368S|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1201S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCAGCAGCCCCTGTGCCCA	0.602000													27	79					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222734	5222734	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:5222734G>A	ENST00000372412.4	-	18	3305	c.3072C>T	c.(3070-3072)ccC>ccT	p.P1024P	PTPRS_ENST00000357368.4_Silent_p.P1023P|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Silent_p.P1001P|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000262963.6_Silent_p.P1019P|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Silent_p.P1001P|PTPRS_ENST00000587303.1_Silent_p.P1023P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1023	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCGGACGGGGGGGCTGAAGG	0.751000													22	16					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181133	79181133	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:79181133C>T	ENST00000554719.1	+	5	1067	c.576C>T	c.(574-576)ttC>ttT	p.F192F	NRXN3_ENST00000335750.5_Silent_p.F192F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	198	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCACGCCATTCACCGCCAGTG	0.557000													40	123					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061397	9061397	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:9061397C>T	ENST00000397910.4	-	3	26252	c.26049G>A	c.(26047-26049)ggG>ggA	p.G8683G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8685	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTTGTATTCCCCAGAGTGG	0.463000													25	33					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123274651	123274651	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:123274651G>A	ENST00000358487.5	-	9	1539	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	FGFR2_ENST00000478859.1_Missense_Mutation_p.P195S|FGFR2_ENST00000351936.6_Missense_Mutation_p.P423S|FGFR2_ENST00000369056.1_Missense_Mutation_p.P424S|FGFR2_ENST00000369059.1_Missense_Mutation_p.P309S|FGFR2_ENST00000356226.4_Missense_Mutation_p.P308S|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.P311S|FGFR2_ENST00000360144.3_Missense_Mutation_p.P335S|FGFR2_ENST00000346997.2_Missense_Mutation_p.P423S|FGFR2_ENST00000457416.2_Missense_Mutation_p.P424S|FGFR2_ENST00000357555.5_Missense_Mutation_p.P334S	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	423					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTCCGCAGGGGGATACGTTTG	0.498000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				22	76					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512843	41512843	+	Missense_Mutation	SNP	C	C	T	rs148377536	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:41512843C>T	ENST00000324071.4	+	4	525	c.518C>T	c.(517-519)tCc>tTc	p.S173F	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	173					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CTCTTCCAGTCCATTACCGCC	0.502000													7	22					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38891817	38891817	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:38891817A>C	ENST00000396821.3	-	6	963	c.864T>G	c.(862-864)atT>atG	p.I288M	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.I209M	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	209	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CCAAGTCTCGAATCTGGGGAC	0.393000													22	84					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170345807	170345807	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:170345807G>A	ENST00000439128.2	-	29	3675	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	NEK1_ENST00000512193.1_Missense_Mutation_p.S943F|NEK1_ENST00000511633.1_Missense_Mutation_p.S996F|NEK1_ENST00000510533.1_Missense_Mutation_p.S968F|NEK1_ENST00000507142.1_Missense_Mutation_p.S1040F	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1012					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATGCAAAGGATTCTTCTGG	0.398000													5	34					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491869	110491869	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:110491869G>A	ENST00000324068.1	-	10	1579	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	CAPN6_ENST00000541758.1_Missense_Mutation_p.P216L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	471	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAACATGGTTGGGACAAGCAC	0.522000													10	31					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54943697	54943697	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:54943697A>T	ENST00000243052.3	+	2	477	c.41A>T	c.(40-42)gAg>gTg	p.E14V		NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	14					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATGCTGGAGGAGTCGGATTGC	0.627000													5	52					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787316	8787316	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:8787316C>T	ENST00000343849.2	+	2	296	c.219C>T	c.(217-219)taC>taT	p.Y73Y	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Silent_p.Y73Y	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	73	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						ACTGGTGCTACCGTCTGTTGT	0.592000													4	25					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506413	125506413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:125506413C>T	ENST00000241305.3	-	14	2292	c.2138G>A	c.(2137-2139)aGg>aAg	p.R713K	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	713					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAAGTCACACCTTGTGGCCCC	0.552000													34	129					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773511	151773511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:151773511C>T	ENST00000368820.3	-	2	2607	c.1670G>A	c.(1669-1671)tGg>tAg	p.W557*		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	557						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTTGCTCCAAAGGGCAAT	0.562000													32	130					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7734088	7734088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:7734088G>A	ENST00000572933.1	+	79	13618	c.12158G>A	c.(12157-12159)tGg>tAg	p.W4053*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W4053*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4053					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAGATGACTGGGACCGGCGC	0.542000													15	39					0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494154	65494154	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:65494154C>T	ENST00000321870.1	+	1	1341	c.807C>T	c.(805-807)atC>atT	p.I269I	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	269	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCGCGGTGATCCCCTACGCGC	0.632000													8	29					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	876253	876253	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:876253C>G	ENST00000323510.4	-	9	1057	c.1058G>C	c.(1057-1059)gGc>gCc	p.G353A	BRD9_ENST00000388890.4_Missense_Mutation_p.G333A|BRD9_ENST00000483173.1_Missense_Mutation_p.G396A|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000467963.1_Missense_Mutation_p.G449A			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	449							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GTGGTCTCCGCCTGTGATCTG	0.637000													14	43					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898594	160898594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:160898594C>T	ENST00000283243.7	-	3	815	c.609G>A	c.(607-609)tgG>tgA	p.W203*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.W203*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	203	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCGTGGCACACCACAGTAAGT	0.448000													20	65					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133575	22133575	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:22133575C>T	ENST00000408935.1	+	1	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGACCATTTCCTTTGACAACT	0.438000													49	109					0	0	1	0	0
NEIL1	79661	broad.mit.edu	37	15	75641541	75641541	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:75641541C>T	ENST00000564784.1	+	3	924	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Silent_p.L99L|NEIL1_ENST00000569035.1_Silent_p.L99L			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	99					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCATGCCCACCTGCGCTTTTA	0.697000								Base excision repair (BER), DNA glycosylases					7	62					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496451	24496451	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:24496451C>T	ENST00000284224.8	-	6	1381	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Silent_p.G368G	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	368					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCAAATTTCCCTACAAAAT	0.428000													23	85					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952571	44952571	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:44952571G>A	ENST00000296125.4	+	12	1796	c.1728G>A	c.(1726-1728)atG>atA	p.M576I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	576					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGGAAATCATGGCCTCTGAAG	0.473000													7	41					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187557879	187557879	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:187557879C>T	ENST00000441802.2	-	5	4041	c.3832G>A	c.(3832-3834)Gac>Aac	p.D1278N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1278	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCATCCTTGTCGGTGGCTATG	0.498000										HNSCC(5;0.00058)			28	157					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													4	114					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137226229	137226229	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:137226229G>A	ENST00000508638.1	+	2	146	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	PKD2L2_ENST00000508883.1_Missense_Mutation_p.E31K|PKD2L2_ENST00000350250.4_Intron|PKD2L2_ENST00000290431.5_Missense_Mutation_p.E31K|PKD2L2_ENST00000502810.1_Missense_Mutation_p.E31K	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	31						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CACACTTCAGGAATTGTTACT	0.289000													15	65					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615055	43615055	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:43615055G>A	ENST00000355710.3	+	14	2701	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G	RET_ENST00000340058.5_Silent_p.G823G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	823	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCAAAGTGGGGCCTGGCTACC	0.687000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	31					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:100263983G>A	ENST00000515683.1	-	0	1148					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													35	226					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392798	178392798	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:178392798G>A	ENST00000320129.3	+	5	1696	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	ZNF454_ENST00000519564.1_Missense_Mutation_p.E465K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCATACTAGGGAAAAACCTTA	0.388000													24	66					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944788	10944788	+	Splice_Site	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:10944788C>T	ENST00000298232.7	-	10	760		c.e10-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000361285.4_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGCTGTCTCCTGTAATATAA	0.313000													8	67					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886213	119886213	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:119886213C>T	ENST00000464295.1	-	10	2556	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	GPR156_ENST00000461057.1_Missense_Mutation_p.R700Q|GPR156_ENST00000315843.3_Missense_Mutation_p.R704Q			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	704						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		ACTTGGGGCCCGGCCAGAACC	0.637000													19	44					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149264387	149264387	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:149264387C>T	ENST00000255266.5	-	15	2001	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	628					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGTGTCTTTCCAAGATAGAG	0.493000													18	51					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427535	104427535	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:104427535T>C	ENST00000297579.5	+	1	594	c.317T>C	c.(316-318)gTt>gCt	p.V106A		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAGGATCCAGTTGAGCCAGCA	0.622000													18	125					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644586	70644586	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:70644586G>A	ENST00000298596.6	+	3	1117	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R345Q|STOX1_ENST00000421961.2_Missense_Mutation_p.R235Q|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	345						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGGCCCGTCCGAGATGAAGAT	0.423000													20	83					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063037	180063037	+	Silent	SNP	G	G	A	rs142980956		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:180063037G>A	ENST00000367607.3	+	34	8215	c.7797G>A	c.(7795-7797)gaG>gaA	p.E2599E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2599						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGATACAGAGGGTCCAAAAG	0.353000													10	25					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262428	43262428	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:43262428G>A	ENST00000255226.6	+	20	3523	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	SLC14A2_ENST00000586448.1_Missense_Mutation_p.E903K|SLC14A2_ENST00000589658.1_Missense_Mutation_p.E380K|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	903						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGTCCCAGGAGAGAAACAG	0.498000													15	83					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436798	20436798	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:20436798C>T	ENST00000377252.3	+	6	1591	c.750C>T	c.(748-750)ctC>ctT	p.L250L	PLXDC2_ENST00000377242.3_Silent_p.L201L|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	250						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAACCCTGCTCATGGATGGAC	0.453000													6	31					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	129					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988852	154988852	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:154988852G>A	ENST00000368426.3	+	4	1448	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	ZBTB7B_ENST00000417934.2_Silent_p.K471K|ZBTB7B_ENST00000535420.1_Silent_p.K437K|ZBTB7B_ENST00000292176.2_Silent_p.K437K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	437				K -> R (in Ref. 1; AAC51847).	cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTGCCACAAGGCTTTCGCCA	0.657000													18	58					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072008	240072008	+	Silent	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:240072008T>C	ENST00000255380.4	+	5	2036	c.1257T>C	c.(1255-1257)agT>agC	p.S419S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	419					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATGGAGGCAGTTTTCCAAAAA	0.572000													4	13					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330636	7330636	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:7330636G>A	ENST00000333870.3	+	3	1400	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	442						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCTCCCCCGACCATGTTTG	0.642000													6	32					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137990287	137990287	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:137990287C>T	ENST00000252854.4	+	4	745	c.558C>T	c.(556-558)taC>taT	p.Y186Y	OLFM1_ENST00000371793.3_Silent_p.Y204Y|OLFM1_ENST00000371796.3_Silent_p.Y177Y	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	204					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCTATGACTACGATGAACTTC	0.507000													14	39					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681153	55681153	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:55681153T>A	ENST00000344514.1	-	1	905	c.906A>T	c.(904-906)aaA>aaT	p.K302N		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ttttCAGTTTTTTCAGGGCCT	0.308000													4	15					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006064	72006064	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:72006064G>A	ENST00000370435.4	+	4	579	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	149						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AGGAGATTATGAAAAACTGGA	0.308000													6	37					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790377	80790377	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:80790377C>T	ENST00000269394.3	-	0	787				TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750							intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCGTGATCACTGTCGACGCC	0.542000													5	24					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8401376	8401376	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:8401376G>A	ENST00000356406.5	-	8	857	c.780C>T	c.(778-780)ttC>ttT	p.F260F	ACOX3_ENST00000413009.2_Silent_p.F260F|ACOX3_ENST00000503233.1_Silent_p.F260F	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	260					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.F260F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGAACATGGCGAAACTGTGGG	0.577000													12	41					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21413915	21413915	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:21413915C>T	ENST00000313654.9	+	24	3188	c.2947C>T	c.(2947-2949)Ctg>Ttg	p.L983L	LAMA3_ENST00000399516.3_Silent_p.L983L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	983	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGTCTGTTCTGGCAGGCCA	0.512000													37	200					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7734089	7734089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:7734089G>A	ENST00000572933.1	+	79	13619	c.12159G>A	c.(12157-12159)tgG>tgA	p.W4053*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W4053*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4053					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGATGACTGGGACCGGCGCC	0.547000													15	39					0	0	1	0	0
EPSTI1	94240	broad.mit.edu	37	13	43474449	43474449	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:43474449C>T	ENST00000313640.7	-	10	909	c.845G>A	c.(844-846)aGg>aAg	p.R282K	EPSTI1_ENST00000313624.7_Missense_Mutation_p.R271K|EPSTI1_ENST00000398762.3_Missense_Mutation_p.R282K	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	282										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GTTTTACCTCCTGTGTTCAGT	0.343000													7	28					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000433	41000433	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:41000433C>T	ENST00000399564.4	-	39	4821	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	MROH2B_ENST00000506092.2_Missense_Mutation_p.M1012I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GAATGCAGACCATCAAGACAT	0.478000													8	32					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2976817	2976817	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:2976817C>T	ENST00000396946.4	-	9	1598	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	399					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTCCTTTTCGATTAAGCAC	0.587000			Mis		DLBCL								4	49					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70243342	70243342	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:70243342G>A	ENST00000265870.2	-	9	944	c.846C>T	c.(844-846)acC>acT	p.T282T	SLC25A16_ENST00000539557.1_Silent_p.T184T|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	282					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TATCCCGCATGGTACTGAAAG	0.368000													24	101					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876556	45876556	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:45876556C>T	ENST00000291592.4	+	2	346	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	10						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTCGCCCCTCGCTCCTGCTG	0.701000													12	78					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567141	142567141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:142567141C>T	ENST00000295992.3	-	3	672	c.366G>A	c.(364-366)atG>atA	p.M122I	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.M122I	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	122	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTGCACCATCATCTTGTTGC	0.517000													13	56					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40760814	40760814	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:40760814T>C	ENST00000298910.7	+	50	7455	c.7397T>C	c.(7396-7398)cTt>cCt	p.L2466P		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2466			L -> H (in PARK8).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGGAAGCCTTAAAAATGTC	0.318000													6	25					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661754	4661754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:4661754G>A	ENST00000357605.2	+	1	810	c.734G>A	c.(733-735)aGg>aAg	p.R245K		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCTCGGAGGGCAGCACTC	0.532000													21	80					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697648	99697648	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:99697648C>T	ENST00000303887.5	-	2	745	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.G34R	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	34					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	AACTGGTTCCCATACTTGAAC	0.418000													9	35					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944924	43944924	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:43944924G>A	ENST00000389420.3	-	2	240	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R81C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	81						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTGAAGCGATAGTGGGTT	0.617000													10	51					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47542827	47542827	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:47542827G>A	ENST00000300527.4	+	21	1751	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	COL6A2_ENST00000310645.5_Silent_p.G549G|COL6A2_ENST00000357838.4_Silent_p.G549G|COL6A2_ENST00000409416.1_Silent_p.G549G|COL6A2_ENST00000397763.1_Silent_p.G549G	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	549	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGAACCTGGGAGGAAAGGAG	0.607000													17	70					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60767532	60767532	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:60767532G>A	ENST00000303375.5	+	26	4160	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q	MRC2_ENST00000446119.2_Missense_Mutation_p.R119Q	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1253					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCTCCTCCCCGAAGAATAAGC	0.642000													10	43					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318010	30318010	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:30318010G>A	ENST00000375377.1	-	3	1168	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	356	Pro-rich.							p.P356L(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTCCAAGTAGGGGTTTGGGAT	0.607000													32	138					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169477	45169477	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:45169477C>T	ENST00000260653.3	+	1	576	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	78					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGAGTTGTCCATGTTCCAGC	0.746000													8	27					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266413	39266413	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:39266413G>A	ENST00000280481.7	+	1	5148	c.4932G>A	c.(4930-4932)atG>atA	p.M1644I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1644					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCAAGTGATGAAGATCCAGG	0.493000													20	67					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28270008	28270008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:28270008C>T	ENST00000405948.2	+	7	2797	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W	PGBD1_ENST00000259883.3_Missense_Mutation_p.R793W	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	793					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTGGATTTTCGGAGATTTGT	0.403000													14	37					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557853	210557853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:210557853G>A	ENST00000360351.4	+	7	1465	c.959G>A	c.(958-960)gGa>gAa	p.G320E	MAP2_ENST00000447185.1_Missense_Mutation_p.G316E|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	320					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTCAAGGGGGAAGCTTCACT	0.438000													21	52					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823914	70823914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:70823914G>A	ENST00000373695.1	+	7	1324	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	ACRC_ENST00000373696.3_Missense_Mutation_p.E263K			Q96QF7	ACRC_HUMAN	acidic repeat containing	263	Asp/Ser-rich.					nucleus		p.E263Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGATGATTCGGAAGCTCCCGA	0.547000													38	202					0	0	1	0	0
EVA1A	84141	broad.mit.edu	37	2	75720473	75720473	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:75720473C>T	ENST00000233712.1	-	4	785	c.348G>A	c.(346-348)gaG>gaA	p.E116E	EVA1A_ENST00000410113.1_Silent_p.E116E|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410071.1_Silent_p.E116E|EVA1A_ENST00000410010.1_Silent_p.E104E|EVA1A_ENST00000393913.3_Silent_p.E116E	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		GCTCCAGCTCCTCCGCAGAGG	0.627000													14	45					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	815696	815696	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:815696C>T	ENST00000566549.1	+	10	1218	c.801C>T	c.(799-801)atC>atT	p.I267I	MSLN_ENST00000382862.3_Silent_p.I267I|MSLN_ENST00000563941.1_Silent_p.I267I|MSLN_ENST00000545450.2_Silent_p.I267I			Q13421	MSLN_HUMAN	mesothelin	267	Required for megakaryocyte-potentiating factor activity.				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTCAGGGCATCGTGGCCGCGT	0.701000													8	38					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133434	22133434	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:22133434C>T	ENST00000408935.1	+	1	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTCATCATCATTGCCACAG	0.443000													42	120					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248790	140248790	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140248790C>T	ENST00000398640.2	+	1	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCCGTCTCGGAGG	0.647000													53	108					0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198266337	198266337	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:198266337C>T	ENST00000367385.4	+	9	1107	c.765C>T	c.(763-765)taC>taT	p.Y255Y	NEK7_ENST00000538004.1_Silent_p.Y255Y	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	255	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AGTGTGACTACCCACCTCTTC	0.368000													14	93					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46661625	46661625	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:46661625G>A	ENST00000544460.1	+	1	6014	c.5760G>A	c.(5758-5760)atG>atA	p.M1920I	TDRD6_ENST00000316081.6_Missense_Mutation_p.M1920I	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1920					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATGACAAGATGGATCCTTTGT	0.453000													23	58					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240601402	240601402	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:240601402T>C	ENST00000319653.9	+	16	5182	c.4952T>C	c.(4951-4953)cTt>cCt	p.L1651P	FMN2_ENST00000545751.1_Missense_Mutation_p.L247P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1651	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAACCAAAACTTGGAGAGAAG	0.383000													43	61					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159569687	159569687	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:159569687C>T	ENST00000307765.5	+	17	2044	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	RXFP1_ENST00000470033.1_Missense_Mutation_p.S565F|RXFP1_ENST00000448688.2_Missense_Mutation_p.S493F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S517F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S550F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	598						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATAGTTTTTTCCTATGGAAGC	0.299000													4	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065681	9065681	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:9065681C>T	ENST00000397910.4	-	3	21968	c.21765G>A	c.(21763-21765)gtG>gtA	p.V7255V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7257	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTTGTCTCCACAGAACTGC	0.483000													58	61					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759929	110759929	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:110759929G>A	ENST00000368919.3	-	5	1371	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	SLC22A16_ENST00000330550.4_Silent_p.I401I|SLC22A16_ENST00000439654.1_Silent_p.I435I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	435					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TCACCTGGGGGATCACCATAA	0.448000													9	60					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103704997	103704997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:103704997C>T	ENST00000245312.3	-	3	1154	c.558G>A	c.(556-558)tgG>tgA	p.W186*		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	186					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTTTTGGGGCCATTTGTGAT	0.388000													10	38					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70897051	70897051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:70897051C>T	ENST00000393567.2	-	68	11656	c.11506G>A	c.(11506-11508)Gaa>Aaa	p.E3836K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3836										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGCTGAATTCCAGCTGGACA	0.488000													13	25					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134399	39134399	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:39134399C>T	ENST00000351578.6	-	9	1918	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	FYB_ENST00000505428.1_Silent_p.L576L|FYB_ENST00000540520.1_Silent_p.L586L|FYB_ENST00000515010.1_Silent_p.L576L|FYB_ENST00000512982.1_Silent_p.L576L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	576					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AGTCTTTTTTCAGTTTCAAAG	0.358000													14	66					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27454357	27454357	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:27454357G>A	ENST00000337929.3	+	5	900	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	IL21R_ENST00000395754.4_Missense_Mutation_p.E143K|IL21R_ENST00000564089.1_Missense_Mutation_p.E143K|IL21R_ENST00000395755.1_Missense_Mutation_p.E143K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	143	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.E143K(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTCAGATTACGAAGACCCTGC	0.532000			T	BCL6	NHL								20	76					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047521	11047521	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:11047521C>T	ENST00000470054.1	-	0	733									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCATAATTCGTTGAAGACA	0.348000													14	221					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206380	49206380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:49206380G>A	ENST00000425340.2	+	2	284	c.167G>A	c.(166-168)gGa>gAa	p.G56E	FUT2_ENST00000391876.4_Missense_Mutation_p.G56E	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	56					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGGCACTGGGACCCAGCCAG	0.562000													10	41					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127714545	127714545	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:127714545C>T	ENST00000508053.1	-	18	2616	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	FBN2_ENST00000262464.4_Missense_Mutation_p.D548N|FBN2_ENST00000508989.1_Missense_Mutation_p.D515N			P35556	FBN2_HUMAN	fibrillin 2	548	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTAACACAATCTCCATTAGTG	0.393000													24	68					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42355696	42355696	+	Nonsense_Mutation	SNP	C	C	T	rs141103699		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:42355696C>T	ENST00000269945.3	+	9	1087	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	DMRTC2_ENST00000596827.1_Nonsense_Mutation_p.R397*	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	346	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCCCTGTCTTCGACCCAGCCC	0.572000													12	29					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134912145	134912145	+	Splice_Site	SNP	G	G	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:134912145G>C	ENST00000607359.1	+	13	2293	c.2291_splice	c.e13-1	p.A765_splice	GPR123_ENST00000392607.3_Splice_Site_p.A45_splice			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTCCCACAGCGCCATCCGCAT	0.657000													13	45					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588607	33588607	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:33588607G>A	ENST00000262873.7	+	38	5433	c.5341G>A	c.(5341-5343)Gcg>Acg	p.A1781T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1739						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAAGCTGGAGGCGGACTTGGC	0.632000													8	31					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979587	12979587	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:12979587G>A	ENST00000251472.4	+	21	2736	c.2697G>A	c.(2695-2697)gaG>gaA	p.E899E		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	899					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGGCAGTAGAGAAGAGGCCTT	0.587000													60	84					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697662	99697662	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:99697662T>G	ENST00000303887.5	-	2	731	c.86A>C	c.(85-87)aAg>aCg	p.K29T	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.K29T	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	29					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTTGAACTGCTTCTTCCCGAG	0.418000													8	35					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242165	26242165	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:26242165G>A	ENST00000335473.7	+	19	3717	c.3467G>A	c.(3466-3468)aGg>aAg	p.R1156K	MYO18B_ENST00000407587.2_Missense_Mutation_p.R1157K|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1156K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1156	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCCTGCAGAGGAGCCGCATG	0.667000													6	48					0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15766991	15766991	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:15766991C>T	ENST00000375949.4	+	3	161	c.135C>T	c.(133-135)atC>atT	p.I45I	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	45	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGCAGATCTCCCTCCAGT	0.612000													6	40					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15535805	15535805	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:15535805C>T	ENST00000344577.2	-	7	1029	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	LIPI_ENST00000536861.1_Missense_Mutation_p.R314K	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	314					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCCTTCCATCCTTTCTTTTAA	0.299000													13	45					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220354	193220354	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:193220354G>A	ENST00000342695.4	-	3	631	c.309C>T	c.(307-309)ctC>ctT	p.L103L	ATP13A4_ENST00000295548.3_Silent_p.L103L|ATP13A4_ENST00000392443.3_Silent_p.L103L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	103					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTCAGGAGTGAGACCAAATG	0.413000													9	46					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12028097	12028097	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:12028097C>T	ENST00000269159.3	+	6	788	c.546C>T	c.(544-546)acC>acT	p.T182T	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	182					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	ACCCTGCGACCCTGAAGCTGT	0.522000													8	72					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22149816	22149816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:22149816C>T	ENST00000389398.5	+	22	2371	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	759						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCCCACCGTCCCCCTGGGGGC	0.517000													6	29					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943231	78943231	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:78943231G>A	ENST00000286627.5	-	5	1708	c.756C>T	c.(754-756)ttC>ttT	p.F252F	KCNMA1_ENST00000286628.8_Silent_p.F252F|KCNMA1_ENST00000404857.1_Silent_p.F252F|KCNMA1_ENST00000354353.5_Silent_p.F252F|KCNMA1_ENST00000372440.1_Silent_p.F252F|KCNMA1_ENST00000372443.1_Silent_p.F252F|KCNMA1_ENST00000406533.3_Silent_p.F252F|KCNMA1_ENST00000404771.3_Silent_p.F252F	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	252					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCACCGTGAAGAAATCCACTA	0.448000													10	33					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339111	124339111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:124339111G>A	ENST00000338354.3	+	10	803	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.A233T|DMBT1_ENST00000368909.3_Missense_Mutation_p.A233T|DMBT1_ENST00000368956.2_Missense_Mutation_p.A233T|DMBT1_ENST00000344338.3_Missense_Mutation_p.A233T|DMBT1_ENST00000368955.3_Missense_Mutation_p.A233T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	233					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATCCAGTTTGGCCCTGAGGCT	0.542000													101	316					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513972	219513972	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:219513972T>A	ENST00000411696.2	-	5	1438	c.659A>T	c.(658-660)cAc>cTc	p.H220L	ZNF142_ENST00000449707.1_Missense_Mutation_p.H220L			P52746	ZN142_HUMAN	zinc finger protein 142	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGTGGGCAGTGGTGGGCCTT	0.552000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	36					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2680505	2680505	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:2680505C>T	ENST00000274643.7	-	8	1050	c.708G>A	c.(706-708)gtG>gtA	p.V236V	MYLK4_ENST00000268446.5_Intron	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	236	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CATCCCGATTCACACACAGGA	0.403000													29	142					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151497296	151497296	+	Silent	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:151497296A>G	ENST00000271636.7	+	8	1681	c.1548A>G	c.(1546-1548)gaA>gaG	p.E516E		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	510	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGAGGTGGAACATGTCCGGC	0.617000													11	25					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510501	84510501	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:84510501G>A	ENST00000360700.4	+	4	1202	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF711_ENST00000276123.3_Missense_Mutation_p.E106K|ZNF711_ENST00000373165.3_Missense_Mutation_p.E106K|ZNF711_ENST00000395402.1_Missense_Mutation_p.E84K			Q9Y462	ZN711_HUMAN	zinc finger protein 711	106					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GGATTTAGAGGAAGATGATGG	0.438000													27	97					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132535009	132535009	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:132535009C>T	ENST00000265342.7	-	16	2556	c.2307G>A	c.(2305-2307)ggG>ggA	p.G769G	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	769						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCCACCTTCCCCGTGGACA	0.592000													16	32					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43913596	43913596	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:43913596A>G	ENST00000302708.4	+	7	787	c.376A>G	c.(376-378)Act>Gct	p.T126A	ALKBH3_ENST00000378840.4_Intron|ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	126					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CTTAGATATAACTTATCAGCA	0.363000								Direct reversal of damage					7	20					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98341558	98341558	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:98341558G>A	ENST00000264972.5	+	4	621	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.E10K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	136	Interdomain A.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTTCTAGGGCGAGGCCCTGGA	0.657000													8	30					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200647	52200647	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:52200647G>A	ENST00000354534.5	+	27	5555	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1752K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1793					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)	TGAGATCTGGGAGAAGTTCGA	0.512000													11	65					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25307485	25307485	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:25307485G>A	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA																							TGCTTGGATCGATGATGAGTC	0.493000													28	78					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221800	56221800	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:56221800G>A	ENST00000357606.3	-	3	932	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	DNAJC14_ENST00000317287.5_Missense_Mutation_p.P215S|DNAJC14_ENST00000317269.3_Missense_Mutation_p.P215S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	215					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGGGACCTGGGATCCCTACGT	0.582000													4	37					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26641802	26641802	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:26641802T>C	ENST00000264866.4	+	7	751	c.473T>C	c.(472-474)tTt>tCt	p.F158S	TBC1D19_ENST00000511789.1_Missense_Mutation_p.F93S|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	158						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CCTAAGGATTTTCTTGAGGTA	0.269000													10	31					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631401	9631401	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:9631401G>A	ENST00000570827.2	+	15	2607	c.1533G>A	c.(1531-1533)aaG>aaA	p.K511K	USP43_ENST00000570475.1_Silent_p.K817K|USP43_ENST00000285199.6_Silent_p.K822K			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	822					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTGGATCCAAGGAGAAACCAC	0.572000													7	21					0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32707010	32707010	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:32707010G>A	ENST00000436190.2	+	6	947	c.673G>A	c.(673-675)Gat>Aat	p.D225N	MAPRE2_ENST00000538170.2_Missense_Mutation_p.D184N|MAPRE2_ENST00000588910.1_Missense_Mutation_p.D237N|MAPRE2_ENST00000589699.1_Missense_Mutation_p.D194N|MAPRE2_ENST00000300249.5_Missense_Mutation_p.D237N|MAPRE2_ENST00000413393.1_Missense_Mutation_p.D194N	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	237	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATCCAAATCCGATAAAGATTT	0.502000													6	50					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042402	5042402	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:5042402C>T	ENST00000304328.5	+	14	2914	c.53C>T	c.(52-54)tCa>tTa	p.S18L	USP6_ENST00000574788.1_Intron|USP6_ENST00000332776.4_Intron|USP6_ENST00000250066.6_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	0					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTCTGGGATCAGCAGACTAC	0.667000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	18					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61713053	61713053	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:61713053C>T	ENST00000423902.2	+	5	2824	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.S782F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	782					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGAGGGATTCCCCCTCCAAC	0.483000													5	26					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5044429	5044429	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:5044429G>A	ENST00000381652.3	+	5	871	c.377G>A	c.(376-378)aGt>aAt	p.S126N	JAK2_ENST00000539801.1_Missense_Mutation_p.S126N|JAK2_ENST00000544510.1_5'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	126	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGTATTGCAGTGGCAGCAAC	0.388000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				26	38					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172280	90172280	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:90172280C>T	ENST00000394412.3	-	18	3667	c.3591G>A	c.(3589-3591)ctG>ctA	p.L1197L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1197					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTAACGGCCCAGTTCCTTCT	0.562000													21	71					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135722	55135722	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:55135722C>T	ENST00000314706.3	+	1	363	c.363C>T	c.(361-363)tcC>tcT	p.S121S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGACCATTTCCTTTCAGGGTT	0.388000													26	96					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10629238	10629238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:10629238G>A	ENST00000254958.5	-	12	2043	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*	JAG1_ENST00000423891.2_Nonsense_Mutation_p.Q351*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	510	EGF-like 8; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGACACTGGAATCTGTTG	0.517000									Alagille Syndrome				11	37					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147486667	147486667	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:147486667C>T	ENST00000359874.3	+	17	1620	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	SPINK5_ENST00000256084.7_Missense_Mutation_p.P516L|SPINK5_ENST00000398454.1_Missense_Mutation_p.P516L	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	516	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCATAATCCTGTCCGTGGC	0.463000													42	81					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739216	46739216	+	Missense_Mutation	SNP	C	C	T	rs149758859	by1000genomes	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:46739216C>T	ENST00000306448.4	-	2	1748	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R212Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	212					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGGCCATTCGTATTTCTGG	0.418000													21	63					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515210	28515210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:28515210C>T	ENST00000356897.1	-	2	215	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	65					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						AAGCGGTGGGCCTGGCCCCGA	0.667000													9	50					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957860	74957860	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:74957860G>A	ENST00000370891.2	+	25	2580	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	TNNI3K_ENST00000326637.3_Missense_Mutation_p.G754E|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.G855E	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AACCGGGGAGGACCTGGCCGG	0.502000													33	99					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73066620	73066620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:73066620G>A	ENST00000263674.3	+	4	3846	c.3496G>A	c.(3496-3498)Gat>Aat	p.D1166N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1166	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCCTATATCGATAACTTCCT	0.552000													9	28					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25670232	25670232	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:25670232C>T	ENST00000377961.2	+	6	567	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	133	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACAGAACTTCCTCCGAGACC	0.398000													28	131					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689971	74689971	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:74689971C>T	ENST00000233616.4	-	4	1107	c.945G>A	c.(943-945)ggG>ggA	p.G315G	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Silent_p.G209G|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	315					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACTGCCCCTGCCCTTGCCCAC	0.572000													39	148					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358539	178358539	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:178358539C>T	ENST00000361362.2	+	5	755	c.225C>T	c.(223-225)aaC>aaT	p.N75N	ZFP2_ENST00000503510.2_Silent_p.N75N|ZFP2_ENST00000520301.1_Silent_p.N75N|ZFP2_ENST00000523286.1_Silent_p.N75N	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GGCCCCATAACTGTAATTCAC	0.363000													15	37					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658103	142658103	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142658103G>A	ENST00000355265.2	-	4	786	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	104					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGCAAAGCTGAAGAAGTCGG	0.512000													22	81					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815945	2815945	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:2815945T>G	ENST00000301740.8	+	11	5965	c.5416T>G	c.(5416-5418)Tca>Gca	p.S1806A		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1806	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGGAGCCGGTCAAGGTCGCG	0.607000													10	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435608	179435608	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:179435608C>T	ENST00000589042.1	-	326	75475	c.75251G>A	c.(75250-75252)cGa>cAa	p.R25084Q	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16144Q|TTN_ENST00000342175.6_Missense_Mutation_p.R16211Q|TTN_ENST00000342992.6_Missense_Mutation_p.R22516Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23443Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16019Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23443	Fibronectin type-III 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R16211Q(1)|p.R16144Q(1)|p.R22514Q(1)|p.R16019Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCGGCATTTCGGGCTATAAC	0.428000													25	89					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474077	149474077	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:149474077C>T	ENST00000378016.2	+	0	287							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTGTTGCCCAGGCTGGGGG	0.622000													23	50					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50039604	50039604	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:50039604G>A	ENST00000335154.5	-	26	3311	c.3078C>T	c.(3076-3078)ccC>ccT	p.P1026P	FMNL3_ENST00000550488.1_3'UTR|FMNL3_ENST00000352151.5_Silent_p.P975P	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	530					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGTCTCAGTGGGGGCCTGGAG	0.637000													5	24					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22910210	22910210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:22910210C>T	ENST00000400546.1	+	18	2695	c.2446C>T	c.(2446-2448)Cca>Tca	p.P816S	NCAM2_ENST00000284894.7_Missense_Mutation_p.P674S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	816					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCTCTAAATCCAGAAACTAT	0.333000													9	22					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647580	12647580	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:12647580C>T	ENST00000425538.1	+	8	998	c.798C>T	c.(796-798)caC>caT	p.H266H	MYOCD_ENST00000343344.4_Silent_p.H266H|MYOCD_ENST00000395988.1_Silent_p.H170H	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	266					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTAAATATCACCAGTACATTC	0.527000													22	50					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114271	117114271	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:117114271G>A	ENST00000310357.3	-	6	1836	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	GPRC6A_ENST00000368549.3_Silent_p.I534I|GPRC6A_ENST00000530250.1_Silent_p.I430I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	605					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAACAAATATGATTCCCAGTA	0.433000													12	71					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83770385	83770385	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:83770385C>T	ENST00000398309.2	-	6	1047	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	DLG2_ENST00000531015.1_Missense_Mutation_p.E160K|DLG2_ENST00000398301.2_Missense_Mutation_p.E232K|DLG2_ENST00000330014.6_Missense_Mutation_p.E132K|DLG2_ENST00000532653.1_Missense_Mutation_p.E193K|DLG2_ENST00000376104.2_Missense_Mutation_p.E298K|DLG2_ENST00000524982.1_Missense_Mutation_p.E193K|DLG2_ENST00000543673.1_Missense_Mutation_p.E298K|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000418306.2_Missense_Mutation_p.E142K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.E232K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	193	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGTTTGATTTCCACAACGGTC	0.448000													17	38					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48955457	48955457	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:48955457G>A	ENST00000267163.4	+	17	1711	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	525	Domain A.|Pocket; binds T and E1A.		A -> G (in dbSNP:rs4151539).		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.?(8)|p.K524fs*28(1)		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)	TAATTTAAAAGCCTTTGATTT	0.308000		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)			5	18					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832013	61832013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:61832013G>A	ENST00000280772.1	-	37	8817	c.8626C>T	c.(8626-8628)Cat>Tat	p.H2876Y	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2876					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTACATCATGAACAAGTACA	0.393000													11	46					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947433	145947433	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:145947433G>A	ENST00000292562.7	-	5	1887	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGGGAATCTGTCCA	0.483000													5	83					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163924	150163924	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:150163924C>T	ENST00000307271.3	+	2	712	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	46						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGACAGTGATCAAAATGTGCC	0.483000													40	156					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379081	113379081	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:113379081G>A	ENST00000316407.4	-	7	1858	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S483F	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	483					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGCTGGAAAGGAATTATTCAA	0.448000													17	44					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99091066	99091066	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:99091066C>T	ENST00000376586.2	+	21	2712	c.2376C>T	c.(2374-2376)atC>atT	p.I792I	FARP1_ENST00000595437.1_Silent_p.I792I|FARP1_ENST00000319562.6_Silent_p.I761I			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	761	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGAGTTCATCCGTCTGGGCA	0.627000													23	88					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323624	152323624	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152323624G>A	ENST00000388718.5	-	3	6710	c.6638C>T	c.(6637-6639)tCc>tTc	p.S2213F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2213							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACCTGAGGATCCTGACTG	0.532000													77	335					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546150	11546150	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:11546150G>C	ENST00000389362.4	-	3	897	c.862C>G	c.(862-864)Cca>Gca	p.P288A	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.P288A(1)|p.P267A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.617000													10	362					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44136280	44136280	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:44136280C>T	ENST00000416848.2	-	5	1830	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T	PUS7L_ENST00000344862.5_Missense_Mutation_p.A448T|PUS7L_ENST00000551923.1_Missense_Mutation_p.A448T|PUS7L_ENST00000431332.3_Missense_Mutation_p.A135T	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	448	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCAGCAAAGCTAGTCCAATT	0.343000													5	41					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16177951	16177951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:16177951G>A	ENST00000332432.8	-	2	776	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	193						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TGTGTATACCGAACTGACCCA	0.408000													17	37					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52897344	52897344	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:52897344G>A	ENST00000261844.7	-	7	2598	c.2446C>T	c.(2446-2448)Ctt>Ttt	p.L816F	FAM214A_ENST00000546305.2_Missense_Mutation_p.L823F	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	816																	CTTGAAAGAAGAGGCAATCCA	0.338000													26	52					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													3	42					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149583515	149583515	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:149583515C>T	ENST00000230671.2	+	10	1617	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.P416S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	416						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AGATGAGTTCCCATACTACCT	0.552000													11	30					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21486619	21486619	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:21486619G>A	ENST00000556147.1	-	13	1798	c.858C>T	c.(856-858)ctC>ctT	p.L286L	NDRG2_ENST00000397853.3_Silent_p.L286L|NDRG2_ENST00000554104.1_Silent_p.L199L|NDRG2_ENST00000397858.1_Silent_p.L286L|NDRG2_ENST00000298687.5_Silent_p.L286L|NDRG2_ENST00000397847.2_Silent_p.L275L|NDRG2_ENST00000553503.1_Silent_p.L272L|NDRG2_ENST00000397851.2_Silent_p.L286L|NDRG2_ENST00000555158.1_Silent_p.L272L|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000350792.3_Silent_p.L272L|NDRG2_ENST00000298684.5_Silent_p.L243L|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397855.3_Silent_p.L243L|NDRG2_ENST00000554143.1_Silent_p.L272L|NDRG2_ENST00000403829.3_Silent_p.L282L|NDRG2_ENST00000360463.3_Silent_p.L272L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	286					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TACTGACCTTGAGGAACGAGG	0.582000													6	15					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108868674	108868674	+	Silent	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:108868674T>C	ENST00000332884.6	+	3	1544	c.1269T>C	c.(1267-1269)caT>caC	p.H423H	CYP2U1_ENST00000508453.1_Silent_p.H214H|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	423					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CCATTCCTCATATGACCTCAG	0.557000													3	24					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559237	1559237	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:1559237G>A	ENST00000381605.4	-	2	244	c.180C>T	c.(178-180)atC>atT	p.I60I	RP4-576H24.4_ENST00000564763.1_Silent_p.I60I|SIRPB1_ENST00000381603.3_Silent_p.I60I|SIRPB1_ENST00000262929.5_Silent_p.I59I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	60	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCCCCACAGGGATCAGGGACG	0.542000													24	79					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133609	47133609	+	RNA	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:47133609C>T	ENST00000422732.2	-	0	435					NR_033957.1																						acgactgccaccaaagccacc	0.493000													7	63					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286310	223286310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:223286310G>A	ENST00000540964.1	-	4	525	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TLR5_ENST00000342210.6_Missense_Mutation_p.P22S			O60602	TLR5_HUMAN	toll-like receptor 5	22					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GAGCAGGAAGGAATTCCAAAC	0.537000													9	54					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583740	35583740	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:35583740C>T	ENST00000287272.2	+	9	1187	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	UNC5D_ENST00000404895.2_Silent_p.I458I|UNC5D_ENST00000449677.1_Silent_p.I34I|UNC5D_ENST00000453357.2_Silent_p.I453I|UNC5D_ENST00000416672.1_Silent_p.I463I|UNC5D_ENST00000420357.1_Silent_p.I391I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	458					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCGGACCCATCTGTCTGCAGG	0.498000													13	41					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53993751	53993751	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:53993751G>A	ENST00000396403.4	+	4	393	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCGCTTTCAGGAAATTGATAA	0.398000													22	58					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848086	7848086	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:7848086C>T	ENST00000329913.3	-	1	286	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	80					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.G80E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGTACATTCCCGCGGACGCC	0.493000													18	49					0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205697	20205697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:20205697G>A	ENST00000407540.3	-	2	660	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	MATN3_ENST00000421259.2_Nonsense_Mutation_p.Q200*	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	200	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGGTCCTGGGGCCTCCCA	0.587000													5	25					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973323	29973323	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:29973323G>A	ENST00000378993.1	+	11	2150	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E493K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	493	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTTTGAGCTGGAAACCAGACT	0.428000													21	69					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010919	108010919	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:108010919G>A	ENST00000280758.5	+	8	2583	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	BTBD11_ENST00000357167.4_Silent_p.E222E|BTBD11_ENST00000420571.2_Silent_p.E685E|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Silent_p.E685E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	685						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGCGAGGAGAACTACTCGG	0.602000													19	83					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400185	85400185	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:85400185C>T	ENST00000258888.5	+	6	2989	c.2822C>T	c.(2821-2823)cCc>cTc	p.P941L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	941					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCAGAACCCCCAAACTCCCA	0.567000													31	153					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540076	113540076	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:113540076G>A	ENST00000505019.1	-	6	1247	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	C4orf21_ENST00000445203.2_Silent_p.F343F|C4orf21_ENST00000309071.5_Silent_p.F374F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	374										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACGTTTCAACGAACTGTATAA	0.353000													5	45					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186080	53186080	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:53186080C>T	ENST00000417996.2	-	5	1205	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q	KRT3_ENST00000309505.3_Silent_p.Q377Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	377	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TATCCTCATACTGTGCACGAA	0.537000													5	27					0	0	1	0	0
DPM3	54344	broad.mit.edu	37	1	155112476	155112476	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:155112476C>A	ENST00000368399.1	-	1	407	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	DPM3_ENST00000368400.4_Missense_Mutation_p.A81S|DPM3_ENST00000341298.3_Missense_Mutation_p.A81S	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	81					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGGCTCGGGCCTCCTGTATC	0.622000													14	70					9.31168e-06	9.36603e-06	1	1	0
CLEC9A	283420	broad.mit.edu	37	12	10205295	10205295	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:10205295G>A	ENST00000355819.1	+	4	622	c.9G>A	c.(7-9)gaG>gaA	p.E3E	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	3					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ACATGCACGAGGAAGAAATAT	0.453000													9	32					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300733	103300733	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:103300733C>T	ENST00000233969.2	+	5	1505	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	455						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTGTGTTTCCTCGGAAAAA	0.428000													25	106					0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42793914	42793914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:42793914G>A	ENST00000329021.5	-	4	650	c.613C>T	c.(613-615)Cca>Tca	p.P205S		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	205					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GCAGATCTTGGATCTGGGCAC	0.617000													19	89					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113240985	113240985	+	Splice_Site	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:113240985C>T	ENST00000297405.5	-	70	11208	c.10964_splice	c.e70+1	p.R3655_splice	CSMD3_ENST00000455883.2_Splice_Site_p.R3486_splice|CSMD3_ENST00000343508.3_Splice_Site_p.R3615_splice|CSMD3_ENST00000352409.3_Splice_Site_p.R3585_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3655						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGAGCTTACCTTTGTTTATA	0.303000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	47					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31644399	31644399	+	Missense_Mutation	SNP	C	C	T	rs112217883	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:31644399C>T	ENST00000375494.3	+	2	176	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	59	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTGCTGGGATCGGTCACAGCT	0.597000													27	68					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137990286	137990286	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:137990286A>T	ENST00000252854.4	+	4	744	c.557A>T	c.(556-558)tAc>tTc	p.Y186F	OLFM1_ENST00000371793.3_Missense_Mutation_p.Y204F|OLFM1_ENST00000371796.3_Missense_Mutation_p.Y177F	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	204					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCCTATGACTACGATGAACTT	0.507000													15	39					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502391	20502391	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20502391C>T	ENST00000315693.2	-	1	528	c.527G>A	c.(526-528)aGc>aAc	p.S176N		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S176N(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ACAGAAAAAGCTGTCTATAAC	0.478000													18	54					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699191	49699191	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:49699191C>T	ENST00000296452.4	+	6	10027	c.9913C>T	c.(9913-9915)Ctc>Ttc	p.L3305F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3305					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGTGGCCACCTCCGGAGCAT	0.597000													18	56					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36118893	36118893	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:36118893C>T	ENST00000377966.3	+	18	2959	c.2393C>T	c.(2392-2394)tCc>tTc	p.S798F		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	798						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAGCACAGCTCCGTCGCCGAG	0.607000													14	36					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063549	49063549	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:49063549G>A	ENST00000376265.2	-	44	5242	c.5181C>T	c.(5179-5181)ttC>ttT	p.F1727F	CACNA1F_ENST00000376251.1_Silent_p.F1662F|CACNA1F_ENST00000323022.5_Silent_p.F1716F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1727					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTGGGATGGTGAAAATGAGAG	0.547000													3	11					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184374	130184374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:130184374C>T	ENST00000422113.2	-	2	1275	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	317						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGCGATCTTCAGTGGAATTT	0.498000													4	40					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803646	142803646	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:142803646G>A	ENST00000423385.1	-	0	1319																											gttgtattctgggctagacat	0.299000													4	25					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68201220	68201220	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:68201220G>A	ENST00000294304.7	+	18	4020	c.3914G>A	c.(3913-3915)tGc>tAc	p.C1305Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1305	LDL-receptor class A 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTTCCCCTGCGCGCGGGGT	0.711000													35	79					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253032	124253032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:124253032C>T	ENST00000375013.2	-	1	226	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAACAGAGATCAATGAAGGAG	0.403000													4	71					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171675156	171675156	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:171675156C>T	ENST00000358196.3	+	2	605	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	GAD1_ENST00000375272.1_Missense_Mutation_p.P19S|GAD1_ENST00000344257.5_Missense_Mutation_p.P19S|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	19					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGAGCGGACCCCAATACCAC	0.622000													21	73					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541246	35541246	+	Splice_Site	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:35541246G>A	ENST00000287272.2	+	5	771		c.e5+1		UNC5D_ENST00000404895.2_Splice_Site|UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site|UNC5D_ENST00000420357.1_Splice_Site			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGGTCTACGGTAAGACCATT	0.507000													11	26					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482381	140482381	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140482381G>A	ENST00000231130.2	+	1	2148	c.2148G>A	c.(2146-2148)agG>agA	p.R716R		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		716					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGCAGGAGGAGCAGGGCGG	0.672000													45	174					0	0	1	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154654	23154654	+	RNA	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:23154654G>A	ENST00000390315.2	+	0	258																											ACGACCCTCCGGGATCCCTGA	0.532000													11	85					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50039605	50039605	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:50039605G>A	ENST00000335154.5	-	26	3310	c.3077C>T	c.(3076-3078)cCc>cTc	p.P1026L	FMNL3_ENST00000550488.1_3'UTR|FMNL3_ENST00000352151.5_Missense_Mutation_p.P975L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	530					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GTCTCAGTGGGGGCCTGGAGC	0.632000													5	25					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851450	43851450	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:43851450C>T	ENST00000372769.3	+	2	1267	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	393	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGTAAGAATTCCTAGTCAAGC	0.403000													29	57					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23833320	23833320	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:23833320C>T	ENST00000264867.2	-	3	408	c.289G>A	c.(289-291)Gac>Aac	p.D97N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	97					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGGAGACTGTCTAGTGTCTCT	0.488000													22	164					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267111	48267111	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:48267111C>T	ENST00000302329.3	+	1	504	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	152					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						TTGCACAAATCCTTCTCATCT	0.502000													38	153					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	916806	916806	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:916806G>A	ENST00000382276.3	+	4	1015	c.866G>A	c.(865-867)aGg>aAg	p.R289K	DMRT1_ENST00000569227.1_Missense_Mutation_p.R131K	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	289					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TCCCAGTACAGGATGCATTCT	0.493000													14	66					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815632	82815632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:82815632G>A	ENST00000265077.3	+	7	2072	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	VCAN_ENST00000342785.4_Missense_Mutation_p.E503K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E455K|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	503	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACATCTATGGAAATCTTAAA	0.393000													40	78					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106924108	106924108	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:106924108T>A	ENST00000369701.3	+	12	2007	c.1780T>A	c.(1780-1782)Tcc>Acc	p.S594T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	594						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTGTTCATCTCCTCCGATGG	0.443000													10	32					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271337	26271337	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:26271337G>A	ENST00000305910.3	-	1	275	c.276C>T	c.(274-276)gcC>gcT	p.A92A		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCCTGCAGGGCCATCACCG	0.562000													29	130					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92058250	92058250	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:92058250C>T	ENST00000256343.3	-	23	2962	c.2806G>A	c.(2806-2808)Gat>Aat	p.D936N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	936					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.D936N(1)		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)				TCCCTGCAATCCGAGAAAGCA	0.368000													7	65					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86960073	86960073	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:86960073C>T	ENST00000234701.3	+	12	2235	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	CLCA1_ENST00000394711.1_Silent_p.A628A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	628					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGTCACAGCCCTGATTGAAT	0.438000													13	27					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558990	140558990	+	Silent	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140558990C>T	ENST00000239444.2	+	1	1620	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		459	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTACACCCTGTTCGTCCG	0.607000													48	473					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13780949	13780949	+	Silent	SNP	G	G	A	rs144001451		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:13780949G>A	ENST00000265104.4	-	53	9044	c.8940C>T	c.(8938-8940)atC>atT	p.I2980I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2980	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTCAGAGTGATCTGGAAGG	0.483000									Kartagener syndrome				10	23					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830235	147830235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:147830235C>T	ENST00000513335.1	-	6	620	c.421G>A	c.(421-423)Gat>Aat	p.D141N	TTC29_ENST00000398886.4_Missense_Mutation_p.D141N|TTC29_ENST00000325106.4_Missense_Mutation_p.D115N			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	115							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCCAGTTTATCAGGCTGCTCC	0.592000													7	62					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513971	219513971	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:219513971G>A	ENST00000411696.2	-	5	1439	c.660C>T	c.(658-660)caC>caT	p.H220H	ZNF142_ENST00000449707.1_Silent_p.H220H			P52746	ZN142_HUMAN	zinc finger protein 142	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACAGTGGGCAGTGGTGGGCCT	0.552000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	36					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970842	151970842	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:151970842G>A	ENST00000355193.2	-	7	1178	c.960C>T	c.(958-960)ttC>ttT	p.F320F	KMT2C_ENST00000262189.6_Silent_p.F320F					lysine (K)-specific methyltransferase 2C																		AGATGTGACTGAAATCCTGAA	0.413000													8	168					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708430	12708430	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:12708430G>A	ENST00000380682.1	+	8	1304	c.798G>A	c.(796-798)caG>caA	p.Q266Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	266	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTCATGAACAGGAGACTCTAA	0.502000													17	75					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102379059	102379059	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:102379059G>A	ENST00000376131.4	-	4	620	c.525C>T	c.(523-525)gcC>gcT	p.A175A	FGF14_ENST00000376143.4_Silent_p.A170A	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	170					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCAAAAACCAGGCTCTACCAG	0.378000													8	32					0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266263	225266263	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:225266263C>T	ENST00000389874.3	-	1	448	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FAM124B_ENST00000409685.3_Missense_Mutation_p.E75K|FAM124B_ENST00000243806.2_Missense_Mutation_p.E75K	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	75							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CCCGGGCTTTCGTGCAGGAAG	0.577000													13	36					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901068	103901068	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:103901068C>T	ENST00000278070.2	+	5	2842	c.2803C>T	c.(2803-2805)Cct>Tct	p.P935S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P935S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	935	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCTGGCTATCCTTGCCTGCC	0.592000													17	71					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45281771	45281771	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:45281771G>A	ENST00000313237.5	-	11	1395	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	PHF21B_ENST00000396103.3_Silent_p.I373I|PHF21B_ENST00000404079.2_Silent_p.I361I|PHF21B_ENST00000403565.1_Silent_p.I211I	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	415							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AAGAGTGCACGATGGCCAGCA	0.622000													36	168					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670013	1670013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:1670013G>A	ENST00000252804.4	-	10	1314	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	422	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCGGTGGCATGGACGCTGTCA	0.592000													12	47					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2980813	2980813	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:2980813A>G	ENST00000399667.2	+	4	1091	c.728A>G	c.(727-729)gAg>gGg	p.E243G	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.E242G|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.E243G			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	243	Poly-Glu.					nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GCCCTGGAGGAGGAGGAGGCA	0.706000													4	22					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207172	58207172	+	Silent	SNP	G	G	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:58207172G>A	ENST00000302572.2	-	1	474	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCAGGAAACCACAGA	0.463000													13	63					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24849437	24849437	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:24849437A>G	ENST00000313367.2	-	20	2757	c.2306T>C	c.(2305-2307)gTa>gCa	p.V769A	OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000409069.1_Missense_Mutation_p.V702A|OSBPL3_ENST00000352860.1_Missense_Mutation_p.V738A|OSBPL3_ENST00000396429.1_Missense_Mutation_p.V733A|OSBPL3_ENST00000353930.1_Missense_Mutation_p.V733A|OSBPL3_ENST00000396431.1_Missense_Mutation_p.V738A|OSBPL3_ENST00000431825.2_Missense_Mutation_p.V702A	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	769					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGCTCTCCATACACAGGCAGA	0.547000													10	35					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130777983	130777983	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:130777983T>C	ENST00000276708.4	-	4	1342	c.461A>G	c.(460-462)aAc>aGc	p.N154S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	154						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CACGTACAGGTTGTCCCCTCT	0.468000													7	51					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451223	55451223	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:55451223C>T	ENST00000446217.1	-	6	1450	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	NLRP7_ENST00000340844.2_Missense_Mutation_p.E322K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E322K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E322K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E322K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E322K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E322K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	322	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGAAGCCCTCCACCCTTACG	0.617000													15	24					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444192	20444192	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20444192C>T	ENST00000305051.5	+	1	590	c.515C>T	c.(514-516)tCa>tTa	p.S172L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCCTCATTTCATGGTTTGTG	0.443000													30	85					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241803453	241803453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:241803453delA	ENST00000366554.2	-	1	210	c.104delT	c.(103-105)ccfs	p.L35fs	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Frame_Shift_Del_p.L35fs	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	35					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGGGCTGAAGAGGGGCGCGGG	0.741													5	10	---	---	---	---					
ABCB11	8647	broad.mit.edu	37	2	169801425	169801425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:169801425delC	ENST00000263817.6	-	20	2514	c.2390delG	c.(2389-2391)gtfs	p.G797fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	797	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TAGGCACACACCATTGATCTG	0.303													2	4	---	---	---	---					
TTC21A	199223	broad.mit.edu	37	3	39166640	39166665	+	Splice_Site	DEL	GGGAAGTCTGAGGTCAGAGCTCCCTG	GGGAAGTCTGAGGTCAGAGCTCCCTG	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:39166640_39166665delGGGAAGTCTGAGGTCAGAGCTCCCTG	ENST00000301819.6	+	10	1381_1392	c.1215_splice	c.e10+1	p.402_splice	TTC21A_ENST00000440121.1_Splice_Site_p.353_splice|TTC21A_ENST00000431162.2_Splice_Site_p.402_splice	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	402							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAAGTCCCTTGGGAAGTCTGAGGTCAGAGCTCCCTGGGGGTATGGG	0.535											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	60	---	---	---	---					
CD276	80381	broad.mit.edu	37	15	73996577	73996577	+	Frame_Shift_Del	DEL	C	C	-	rs145827704	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:73996577delC	ENST00000318443.5	+	6	1435	c.1133delC	c.(1132-1134)agfs	p.T378fs	CD276_ENST00000537340.2_Frame_Shift_Del_p.T232fs|CD276_ENST00000561213.1_Frame_Shift_Del_p.T378fs|CD276_ENST00000564751.1_Frame_Shift_Del_p.T160fs|CD276_ENST00000318424.5_Frame_Shift_Del_p.T160fs	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	378	Ig-like C2-type 2.		T -> M (in dbSNP:rs11574479).		cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CCAGGGGACACGGTGACCATC	0.652													13	32	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													2	4	---	---	---	---					
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58091611	58091611	+	RNA	DEL	G	G	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:58091611delG	ENST00000407042.3	-	0	609																											CTCCGGGGAAGCCCCCATCCC	0.597													25	96	---	---	---	---