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
GAPDHS	26330	broad.mit.edu	37	19	36029554	36029554	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:36029554G>A	ENST00000222286.4	+	4	534	c.418G>A	c.(418-420)Gtg>Atg	p.V140M		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	140					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	ACAACTGGTCGTGGACAACCA	0.502000													3	64					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013025	142013025	+	RNA	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:142013025C>A	ENST00000390357.3	+	0	19																											CATCTCAGACCCGAGGCTAGC	0.582000													9	110					1.08611e-07	1.28537e-07	1	1	0
ASIC4	55515	broad.mit.edu	37	2	220379995	220379995	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:220379995T>A	ENST00000358078.4	+	1	944	c.930T>A	c.(928-930)agT>agA	p.S310R	ASIC4_ENST00000347842.3_Missense_Mutation_p.S310R|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	310						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GCAACTTCAGTGGGCATCACT	0.632000													11	126					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878490	878490	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:878490T>C	ENST00000323510.4	-	8	962	c.963A>G	c.(961-963)acA>acG	p.T321T	BRD9_ENST00000483173.1_Silent_p.T364T|BRD9_ENST00000388890.4_Silent_p.T301T|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000467963.1_Silent_p.T417T|BRD9_ENST00000494422.1_5'UTR			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	417							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)			ACTGCACGCCTGTCTCATCTC	0.587000													107	168					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806077	22806077	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr18:22806077C>A	ENST00000361524.3	-	4	1953	c.1805G>T	c.(1804-1806)aGg>aTg	p.R602M	ZNF521_ENST00000538137.2_Missense_Mutation_p.R602M|ZNF521_ENST00000584787.1_Missense_Mutation_p.R382M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	602					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTTAAGGCCCTGGATTTCTT	0.448000			T	PAX5	ALL								24	101					4.54149e-19	6.43963e-19	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117026469	117026469	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:117026469C>T	ENST00000355044.3	+	12	2094	c.1968C>T	c.(1966-1968)tgC>tgT	p.C656C		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	656	PSI 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGCAAAGTGCCCTCCTAAAA	0.323000													4	145					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459310	92459310	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:92459310C>T	ENST00000318445.6	+	2	482	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SLCO3A1_ENST00000424469.2_Silent_p.L90L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	90					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GATCGGGAACCTGGCGCTCAT	0.672000													8	149					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561824	147561824	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:147561824C>G	ENST00000281321.3	+	2	1342	c.1094C>G	c.(1093-1095)gCc>gGc	p.A365G		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	365					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCCTACTTTGCCATTCAGCCT	0.592000													14	211					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122817441	122817441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:122817441G>T	ENST00000227349.2	+	6	2167	c.1870G>T	c.(1870-1872)Gaa>Taa	p.E624*	C11orf63_ENST00000531316.1_Nonsense_Mutation_p.E624*	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	624										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAGCAATTCTGAAGGCTATCT	0.398000													13	61					2.27111e-07	2.67396e-07	1	1	0
CDC20	991	broad.mit.edu	37	1	43825658	43825658	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:43825658A>G	ENST00000372462.1	+	4	649	c.446A>G	c.(445-447)aAa>aGa	p.K149R	CDC20_ENST00000310955.6_Missense_Mutation_p.K149R|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	149					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACAGACTGAAAGTACTCTAC	0.522000													18	364					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188830	24188830	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:24188830G>T	ENST00000265769.4	+	12	1381	c.1271G>T	c.(1270-1272)gGg>gTg	p.G424V	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G171V|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.G424V|ADAM28_ENST00000540823.1_Missense_Mutation_p.G191V|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	424	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTGATTGTGGGACATCTGAG	0.403000													18	52					6.49762e-13	8.52696e-13	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27497465	27497465	+	Silent	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:27497465T>A	ENST00000356183.4	-	24	3726	c.3711A>T	c.(3709-3711)ccA>ccT	p.P1237P	GTF3C1_ENST00000561623.1_Silent_p.P1237P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1237						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTTTTCTCCTGGGAACTCTC	0.567000													12	501					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87696350	87696350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:87696350G>T	ENST00000436978.1	+	34	6030	c.5550G>T	c.(5548-5550)atG>atT	p.M1850I	PTPN13_ENST00000427191.2_Missense_Mutation_p.M1826I|PTPN13_ENST00000511467.1_Missense_Mutation_p.M1850I|PTPN13_ENST00000316707.6_Missense_Mutation_p.M1654I|PTPN13_ENST00000411767.2_Missense_Mutation_p.M1845I	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1845	PDZ 4.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTACTAATATGACTCATACAG	0.368000													7	42					8.12818e-05	8.88475e-05	1	1	0
CAMK2B	816	broad.mit.edu	37	7	44282253	44282253	+	Splice_Site	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:44282253C>G	ENST00000395749.2	-	9	678	c.601_splice	c.e9-1	p.G201_splice	CAMK2B_ENST00000502837.2_Splice_Site_p.G72_splice|CAMK2B_ENST00000440254.2_Splice_Site_p.G201_splice|CAMK2B_ENST00000457475.1_Splice_Site_p.G201_splice|CAMK2B_ENST00000353625.4_Splice_Site_p.G201_splice|CAMK2B_ENST00000358707.3_Splice_Site_p.G201_splice|CAMK2B_ENST00000347193.4_Splice_Site_p.G201_splice|CAMK2B_ENST00000395747.2_Splice_Site_p.G201_splice|CAMK2B_ENST00000258682.6_Splice_Site_p.G201_splice|CAMK2B_ENST00000346990.4_Splice_Site_p.G201_splice|CAMK2B_ENST00000350811.3_Splice_Site_p.G201_splice	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	201	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CAGGATCACCCCTGCGGATGG	0.632000													4	29					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964441	94964441	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:94964441G>T	ENST00000341228.2	-	3	1089	c.294C>A	c.(292-294)atC>atA	p.I98I	SERPINA12_ENST00000556881.1_Silent_p.I98I	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	98					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ACCCCTGCTTGATCTCGTCCA	0.517000													25	119					1.36565e-18	1.93045e-18	1	1	0
ANO5	203859	broad.mit.edu	37	11	22257783	22257783	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:22257783A>G	ENST00000324559.8	+	8	1040	c.723A>G	c.(721-723)ctA>ctG	p.L241L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	241						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGACTGCTAAACTCTAACA	0.388000													25	116					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136269060	136269060	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:136269060G>A	ENST00000371957.3	+	16	1727	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q	C9orf96_ENST00000371955.1_Silent_p.Q73Q	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	540							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCAAGGAGCAGCAGTTTGAAC	0.672000													24	82					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044400	119044400	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:119044400A>G	ENST00000334464.5	-	5	2083	c.1844T>C	c.(1843-1845)cTc>cCc	p.L615P	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	615	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTTTCAACGAGAACATCTGG	0.498000													29	161					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48149520	48149520	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:48149520G>T	ENST00000416054.1	-	12	1727	c.1722C>A	c.(1720-1722)agC>agA	p.S574R	ABCC12_ENST00000311303.3_Silent_p.R599R|ABCC12_ENST00000448542.1_Silent_p.R599R			Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	0	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTGAGGCCCCGCTCCCCAATC	0.622000													5	39					0.014758	0.0150874	1	1	0
MPP5	64398	broad.mit.edu	37	14	67746200	67746200	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:67746200G>C	ENST00000261681.4	+	3	974	c.313G>C	c.(313-315)Gat>Cat	p.D105H	MPP5_ENST00000556345.1_Missense_Mutation_p.D105H|MPP5_ENST00000555925.1_Missense_Mutation_p.D71H	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	105	Interaction with PARD6B (By similarity).				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCCTATGTTTGATACAGAGGA	0.338000													4	127					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447277	43447277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:43447277G>T	ENST00000395891.1	+	8	1353	c.748G>T	c.(748-750)Gag>Tag	p.E250*	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Nonsense_Mutation_p.E250*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	250	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCATGGACAGGAGAGGAGATC	0.517000													8	107					0.00621372	0.00646791	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158224768	158224768	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:158224768T>C	ENST00000296526.7	+	3	619	c.294T>C	c.(292-294)aaT>aaC	p.N98N	GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000393815.2_Silent_p.N51N|GRIA2_ENST00000264426.9_Silent_p.N98N|GRIA2_ENST00000507898.1_Silent_p.N51N|GRIA2_ENST00000449365.1_Silent_p.N51N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	98					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGTCTGTAAATACCATCACAT	0.413000													28	134					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246425	97246425	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:97246425G>T	ENST00000229955.3	-	2	1528	c.1183C>A	c.(1183-1185)Cag>Aag	p.Q395K	GPR63_ENST00000417980.1_Missense_Mutation_p.Q395K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	395						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CCAGGGAGCTGCGGCAAAAAC	0.483000													10	136					1.58986e-06	1.84344e-06	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	64					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47604138	47604138	+	Silent	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:47604138A>C	ENST00000383738.2	-	5	3751	c.1653T>G	c.(1651-1653)ggT>ggG	p.G551G	CSPG5_ENST00000264723.4_Silent_p.G524G|CSPG5_ENST00000456150.1_Silent_p.G386G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	551					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGCCTGGTCACCTTTGCCAC	0.507000													22	335					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76964598	76964598	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:76964598C>A	ENST00000380887.2	+	7	1171	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ESRRB_ENST00000509242.1_Missense_Mutation_p.Q367K|ESRRB_ENST00000556177.1_Missense_Mutation_p.Q367K|ESRRB_ENST00000261532.7_Missense_Mutation_p.Q367K|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	367						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCAGAAGCTGCAGGACCTGCT	0.627000													18	77					2.94398e-08	3.55764e-08	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47527735	47527735	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr18:47527735C>T	ENST00000285039.7	-	5	801	c.502G>A	c.(502-504)Ggg>Agg	p.G168R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	168	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCGTCTTCCCGGCTCCAGAC	0.527000													5	215					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120569030	120569030	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:120569030C>T	ENST00000300648.6	-	55	7534	c.7522G>A	c.(7522-7524)Gat>Aat	p.D2508N		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2508					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTGAACATCACTGCTATAT	0.577000													5	144					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51952446	51952446	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr13:51952446C>T	ENST00000311234.4	-	12	2003	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	INTS6_ENST00000398119.2_Missense_Mutation_p.D498N|INTS6_ENST00000497989.1_Missense_Mutation_p.D333N|INTS6_ENST00000490542.1_Missense_Mutation_p.D195N|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000425000.1_Missense_Mutation_p.D79N	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	511					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TGAGGGACATCCTCTGAAATT	0.403000													51	168					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26810707	26810707	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:26810707T>C	ENST00000381340.3	-	18	2541	c.2125A>G	c.(2125-2127)Atc>Gtc	p.I709V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	709					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGGTGCCTGATAGCTTTGCCA	0.413000													27	146					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41739000	41739000	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:41739000C>T	ENST00000373018.3	-	7	1087	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	FRS3_ENST00000259748.2_Missense_Mutation_p.C279Y	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	279					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGCTGGACACTCAGAAGG	0.647000													11	97					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947717	145947717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:145947717C>A	ENST00000292562.7	-	5	1603	c.1328G>T	c.(1327-1329)cGt>cTt	p.R443L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	443					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)		GGAACTCCGACGAAAGGCTTT	0.493000													84	131					2.67039e-37	4.11798e-37	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54313981	54313981	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:54313981C>A	ENST00000324134.6	-	3	1100	c.932G>T	c.(931-933)tGc>tTc	p.C311F	NLRP12_ENST00000345770.5_Missense_Mutation_p.C311F|NLRP12_ENST00000351894.4_Missense_Mutation_p.C311F|NLRP12_ENST00000535162.1_Missense_Mutation_p.C311F|NLRP12_ENST00000391775.3_Missense_Mutation_p.C311F|NLRP12_ENST00000391772.1_Missense_Mutation_p.C311F|NLRP12_ENST00000391773.1_Missense_Mutation_p.C311F|NLRP12_ENST00000354278.3_Missense_Mutation_p.C311F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	311	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCAGCAGAGGCACCAGGGTCC	0.572000													9	121					5.4927e-09	6.69058e-09	1	1	0
SNX29	92017	broad.mit.edu	37	16	12145858	12145858	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:12145858C>T	ENST00000566228.1	+	8	972	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	23	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCTCCTCTGTCAATATCATGT	0.507000													11	183					0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134109999	134109999	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:134109999G>T	ENST00000281187.5	+	3	973	c.495G>T	c.(493-495)gaG>gaT	p.E165D	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.E165D	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	165					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCAAGATGGAGGTTGGGATTG	0.433000													7	156					0.0293803	0.0297703	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127186009	127186009	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:127186009T>A	ENST00000371124.3	-	1	373	c.177A>T	c.(175-177)caA>caT	p.Q59H		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	59						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ACAGGGCTTCTTGCCCCACGA	0.483000													55	108					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128903423	128903423	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:128903423T>C	ENST00000375990.3	+	18	2229	c.1826T>C	c.(1825-1827)gTt>gCt	p.V609A	UGGT1_ENST00000259253.6_Missense_Mutation_p.V633A			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	633					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTCTGCCCGTTGTGCTGTTC	0.438000													24	145					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069637	114069637	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:114069637C>T	ENST00000462705.1	-	11	1890	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	ZBTB20_ENST00000481632.1_Missense_Mutation_p.A357T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A357T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A357T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A357T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A357T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A430T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAGAGGAAGCACCTGTTTCT	0.597000													5	182					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951408	10951408	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr21:10951408C>G	ENST00000298232.7	-	9	617	c.250G>C	c.(250-252)Gtc>Ctc	p.V84L	TPTE_ENST00000361285.4_Missense_Mutation_p.V102L|TPTE_ENST00000342420.5_Missense_Mutation_p.V64L|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	102					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)		TCCAGTAAGACCAGGAAAACT	0.328000													11	196					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56309860	56309860	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:56309860G>T	ENST00000262494.7	+	3	439	c.179G>T	c.(178-180)gGc>gTc	p.G60V	GNAO1_ENST00000262493.6_Missense_Mutation_p.G60V	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	60					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGAAGATGGCTTCTCCGGA	0.522000													13	66					2.32078e-09	2.87276e-09	1	1	0
GJC1	10052	broad.mit.edu	37	17	42882827	42882827	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:42882827C>T	ENST00000426548.1	-	3	628	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GJC1_ENST00000592524.1_Missense_Mutation_p.R120H|GJC1_ENST00000330514.4_Missense_Mutation_p.R120H|GJC1_ENST00000590758.1_Missense_Mutation_p.R120H	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	120					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.R120H(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TTGTTTCCAGCGCATTGCATA	0.488000													43	164					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304433	10304433	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:10304433G>T	ENST00000403437.2	-	25	3278	c.3184C>A	c.(3184-3186)Ctc>Atc	p.L1062I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1062					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCAATTTGAGGTCACCCTCC	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	148					0.014758	0.0150874	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125660497	125660497	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:125660497G>A	ENST00000431078.1	+	22	3836	c.3472G>A	c.(3472-3474)Gcc>Acc	p.A1158T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1158	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)		TAAAGCAAATGCCATGGGTTT	0.443000													5	48					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45942346	45942346	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:45942346A>C	ENST00000422395.1	+	4	287	c.152A>C	c.(151-153)cAt>cCt	p.H51P	CCR9_ENST00000357632.2_Silent_p.T22T|CCR9_ENST00000355983.2_Silent_p.T10T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.T10T|LZTFL1_ENST00000539217.1_Intron			P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	109					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CTGAATCCACATCTTCCATGG	0.448000													10	173					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1390523	1390523	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:1390523A>G	ENST00000259806.1	+	1	455	c.341A>G	c.(340-342)cAg>cGg	p.Q114R		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	114					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		ATGGCCATCCAGAGCTCGCCC	0.697000													10	68					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16263822	16263822	+	Silent	SNP	G	G	T	rs145237335		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:16263822G>T	ENST00000375759.3	+	12	10395	c.10191G>T	c.(10189-10191)acG>acT	p.T3397T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3397	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGACCCAGACGGGAGTAGAGC	0.652000													19	85					1.56452e-12	2.03566e-12	1	1	0
AHR	196	broad.mit.edu	37	7	17349607	17349607	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:17349607G>C	ENST00000242057.4	+	2	756	c.113G>C	c.(112-114)cGg>cCg	p.R38P		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	38					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCTTCCAAGCGGCATAGAGAC	0.373000													15	85					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5803383	5803383	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:5803383C>A	ENST00000328090.5	+	19	7748	c.7123C>A	c.(7123-7125)Cta>Ata	p.L2375I		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2375																	GAAATGTTTGCTAAACCTGCA	0.383000													26	188					3.73988e-18	5.25419e-18	1	1	0
PCNX	22990	broad.mit.edu	37	14	71455404	71455404	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:71455404G>T	ENST00000304743.2	+	7	2878	c.2432G>T	c.(2431-2433)gGa>gTa	p.G811V	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.G811V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	811						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTGCTCATCGGATCACCCCTA	0.507000													35	350					9.8876e-21	1.43308e-20	1	1	0
OR2T34	127068	broad.mit.edu	37	1	248737730	248737730	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:248737730A>T	ENST00000328782.2	-	1	350	c.329T>A	c.(328-330)cTg>cAg	p.L110Q		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCCAGGGTCAGGTGGAAGAA	0.547000													30	134					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249983	52249983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:52249983C>T	ENST00000595042.1	-	3	406	c.265G>A	c.(265-267)Gga>Aga	p.G89R	FPR1_ENST00000304748.4_Missense_Mutation_p.G89R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	89					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGCCAATGTCCTCCCATGGCC	0.512000													17	139					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8590439	8590439	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:8590439C>A	ENST00000338257.8	-	25	3045	c.2778G>T	c.(2776-2778)acG>acT	p.T926T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	926						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTCCCTTCCGCGTAGGCTCTG	0.622000													6	46					0.00116845	0.00124453	1	1	0
ENPP5	59084	broad.mit.edu	37	6	46133288	46133288	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:46133288T>C	ENST00000371383.2	-	4	1102	c.842A>G	c.(841-843)gAa>gGa	p.E281G	ENPP5_ENST00000230565.3_Missense_Mutation_p.E281G|ENPP5_ENST00000492313.1_5'UTR			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	281						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTCATAGACTTCATCAAATTT	0.403000													5	115					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241519037	241519037	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:241519037C>G	ENST00000366565.1	-	2	421	c.40G>C	c.(40-42)Gtg>Ctg	p.V14L	RGS7_ENST00000348120.2_Missense_Mutation_p.V14L|RGS7_ENST00000401882.1_Missense_Mutation_p.V14L|RGS7_ENST00000407727.1_Missense_Mutation_p.V14L|RGS7_ENST00000366562.4_Missense_Mutation_p.V14L|RGS7_ENST00000366563.1_Missense_Mutation_p.V14L|RGS7_ENST00000366564.1_Missense_Mutation_p.V14L	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	14					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCATCGGCCACCCCGTTGCTG	0.478000													28	168					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595930	129595930	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:129595930T>A	ENST00000373464.4	+	3	1406	c.1142T>A	c.(1141-1143)tTc>tAc	p.F381Y	ZBTB43_ENST00000449886.1_Missense_Mutation_p.F381Y|ZBTB43_ENST00000373457.1_Missense_Mutation_p.F381Y	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGGAAAAGTTTCACTCACAAG	0.463000													27	107					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116759	161116759	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:161116759C>A	ENST00000523217.1	+	6	859	c.617C>A	c.(616-618)tCt>tAt	p.S206Y	GABRA6_ENST00000274545.5_Missense_Mutation_p.S216Y	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	216					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAACAGTATCTAGTGAGACA	0.363000										TCGA Ovarian(5;0.080)			24	110					9.86323e-18	1.37306e-17	1	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													5	326					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56346580	56346580	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:56346580C>T	ENST00000331886.5	+	21	2260	c.1806C>T	c.(1804-1806)atC>atT	p.I602I	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.I602I|DGKA_ENST00000394147.1_Silent_p.I602I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	602					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGCTAAACATCCCTAGCATGC	0.552000													6	337					0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115084	27115084	+	Silent	SNP	G	G	A	rs147640519	byFrequency	TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:27115084G>A	ENST00000377459.1	+	1	224	c.177G>A	c.(175-177)ctG>ctA	p.L59L		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	59					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGGAGTACCTGACCGCTGAGA	0.657000													11	135					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56309859	56309859	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:56309859G>T	ENST00000262494.7	+	3	438	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C	GNAO1_ENST00000262493.6_Missense_Mutation_p.G60C	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	60					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCATGAAGATGGCTTCTCCGG	0.522000													13	66					2.32078e-09	2.87276e-09	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137988713	137988713	+	Missense_Mutation	SNP	C	C	A	rs61741154		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:137988713C>A	ENST00000409968.1	+	8	2001	c.1823C>A	c.(1822-1824)aCg>aAg	p.T608K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T577K|THSD7B_ENST00000272643.3_Missense_Mutation_p.T608K					thrombospondin, type I, domain containing 7B									p.T608M(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517000													11	52					5.50884e-06	6.26066e-06	1	1	0
OR4K15	81127	broad.mit.edu	37	14	20444268	20444268	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:20444268G>T	ENST00000305051.5	+	1	666	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	197					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)		GTCCTAATAAGGTAGACAGTT	0.418000													18	389					5.01169e-05	5.55776e-05	1	1	0
COL25A1	84570	broad.mit.edu	37	4	109748338	109748338	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:109748338T>G	ENST00000399132.1	-	33	2247	c.1717A>C	c.(1717-1719)Aaa>Caa	p.K573Q	COL25A1_ENST00000399126.1_Missense_Mutation_p.K573Q|COL25A1_ENST00000399127.1_Missense_Mutation_p.K585Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	573	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATAGCTCCTTTTTCACCCTAA	0.483000													3	60					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64049912	64049912	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:64049912T>C	ENST00000392769.2	-	12	1378	c.1160A>G	c.(1159-1161)gAt>gGt	p.D387G	CEP112_ENST00000541355.1_Missense_Mutation_p.D22G|CEP112_ENST00000537949.1_Missense_Mutation_p.D345G|CEP112_ENST00000535342.2_Missense_Mutation_p.D387G	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	387						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CACATTTGTATCCTCAAGCAA	0.388000													65	223					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483550	31483550	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:31483550C>A	ENST00000322054.5	+	4	962	c.677C>A	c.(676-678)aCg>aAg	p.T226K	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	226					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAGATCGAGACGCAGCAGCTG	0.552000													16	98					3.52763e-06	4.04926e-06	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34049329	34049329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:34049329C>A	ENST00000373381.4	-	47	7329	c.7153G>T	c.(7153-7155)Gtg>Ttg	p.V2385L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2387	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCACTCTCACCAGCCAAGAG	0.502000													11	188					6.40141e-05	7.04771e-05	1	1	0
GPR132	29933	broad.mit.edu	37	14	105518322	105518322	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:105518322G>A	ENST00000329797.3	-	4	1063	c.152C>T	c.(151-153)gCg>gTg	p.A51V	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A51V|GPR132_ENST00000392585.2_Missense_Mutation_p.A42V	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	51					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGTGCACACCGCGCTGTACAC	0.662000													6	115					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109822297	109822297	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:109822297T>G	ENST00000399132.1	-	14	1342	c.812A>C	c.(811-813)cAg>cCg	p.Q271P	COL25A1_ENST00000399126.1_Missense_Mutation_p.Q271P|COL25A1_ENST00000399127.1_Missense_Mutation_p.Q267P	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	271	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TATTCCATTCTGTCCTACTGC	0.353000													4	113					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510705	5510705	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:5510705C>A	ENST00000322641.5	+	1	791	c.769C>A	c.(769-771)Cct>Act	p.P257T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTACATCCCTGCCTTCTT	0.512000													19	156					7.45023e-12	9.58484e-12	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51901574	51901574	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:51901574G>A	ENST00000268919.4	+	1	1336	c.1180G>A	c.(1180-1182)Gtg>Atg	p.V394M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	394	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAGAAAGAGGTGTGTTGTGT	0.517000													18	82					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338444	13338444	+	RNA	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:13338444C>A	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						CGAAAGCATTCATGGAGGCTT	0.443000													11	90					1.08611e-07	1.28537e-07	1	1	0
MZT2A	653784	broad.mit.edu	37	2	132241750	132241750	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:132241750G>A	ENST00000309451.6	-	3	406	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	121						centrosome|gamma-tubulin ring complex|spindle				breast(1)|lung(1)	2						CGTTCCGCCAGGGCCAATACT	0.632000													4	165					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086209	126086209	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:126086209C>A	ENST00000339582.2	-	10	3456	c.2648G>T	c.(2647-2649)aGt>aTt	p.S883I	GRM8_ENST00000444921.2_Missense_Mutation_p.S883I|GRM8_ENST00000358373.3_Missense_Mutation_p.S883I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	883					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACAGAGTTCACTTTTCACCTC	0.453000										HNSCC(24;0.065)			49	230					7.34454e-26	1.09928e-25	1	1	0
PTF1A	256297	broad.mit.edu	37	10	23482715	23482715	+	Silent	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:23482715C>G	ENST00000376504.3	+	2	1071	c.867C>G	c.(865-867)ctC>ctG	p.L289L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	289					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AAAAACAACTCAAGGAACAAA	0.502000													13	480					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080826	126080826	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:126080826G>C	ENST00000368364.3	+	5	1089	c.892G>C	c.(892-894)Gcc>Ccc	p.A298P	HEY2_ENST00000368365.1_Missense_Mutation_p.A252P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	298	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AGCAGCAGTGGCCGCGGCCAC	0.647000													25	377					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101235488	101235488	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:101235488G>T	ENST00000259455.2	-	6	1398	c.939C>A	c.(937-939)ggC>ggA	p.G313G		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	313					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGCCAATGTAGCCCTCCATGG	0.577000													12	60					5.50884e-06	6.26066e-06	1	1	0
GAS2	2620	broad.mit.edu	37	11	22707266	22707266	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:22707266G>C	ENST00000454584.2	+	3	503	c.198G>C	c.(196-198)ttG>ttC	p.L66F	GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Missense_Mutation_p.L66F|GAS2_ENST00000278187.3_Missense_Mutation_p.L66F	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	66	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						ATGGTGCCTTGCTCTGTCAAC	0.378000													33	126					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535667	130535667	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:130535667T>C	ENST00000532763.1	-	3	213	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SAMD3_ENST00000368134.2_Silent_p.E28E|SAMD3_ENST00000437477.2_Silent_p.E28E|SAMD3_ENST00000457563.2_Silent_p.E52E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Silent_p.E28E|SAMD3_ENST00000324172.6_Silent_p.E28E			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	28	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACTTACTTCTTCCTCTGGGA	0.393000													18	83					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670844	186670844	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:186670844C>A	ENST00000343098.5	+	17	17078	c.17078C>A	c.(17077-17079)tCt>tAt	p.S5693Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5604Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGATCAGATTCTGAAATAGGC	0.318000													28	131					3.99451e-17	5.54389e-17	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155157000	155157000	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:155157000A>T	ENST00000357232.3	-	25	7438	c.7439T>A	c.(7438-7440)aTt>aAt	p.I2480N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2480	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATCAAATAAATATTTCCATT	0.378000													18	127					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655020	159655020	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:159655020C>A	ENST00000297267.9	+	11	3676	c.3476C>A	c.(3475-3477)tCg>tAg	p.S1159*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.S1096*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1159						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCGGGGAAGTCGGAGCCTCCT	0.711000													6	13					0.0215528	0.0219359	1	1	0
OR4K13	390433	broad.mit.edu	37	14	20502179	20502179	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:20502179C>T	ENST00000315693.2	-	1	740	c.739G>A	c.(739-741)Gtg>Atg	p.V247M		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AACAGAGTCACAACTGTGATG	0.438000													12	81					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540560	31540560	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:31540560G>T	ENST00000454783.1	+	2	299	c.41G>T	c.(40-42)gGc>gTc	p.G14V	LTA_ENST00000418386.2_Missense_Mutation_p.G14V	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	14					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	AGGGTGTGTGGCACCACCCTA	0.642000													24	157					1.17739e-12	1.5407e-12	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26270379	26270379	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr22:26270379A>G	ENST00000335473.7	+	23	4328	c.4078A>G	c.(4078-4080)Aag>Gag	p.K1360E	MYO18B_ENST00000407587.2_Missense_Mutation_p.K1361E|MYO18B_ENST00000536101.1_Missense_Mutation_p.K1360E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1360	IQ.					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						CAAGAAGCTGAAGGTACTGCA	0.562000													10	34					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51993418	51993418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:51993418G>T	ENST00000220478.3	+	10	1587	c.1184G>T	c.(1183-1185)gGa>gTa	p.G395V	SCG3_ENST00000542355.2_Missense_Mutation_p.G163V	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	395					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TCCAACCCAGGAGGAAAGACA	0.433000													33	146					3.03874e-20	4.37655e-20	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	476					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197411345	197411345	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:197411345G>T	ENST00000367400.3	+	11	4063	c.3928G>T	c.(3928-3930)Ggt>Tgt	p.G1310C	CRB1_ENST00000535699.1_Missense_Mutation_p.G1286C|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.G774C|CRB1_ENST00000367399.2_Missense_Mutation_p.G1198C|CRB1_ENST00000544212.1_Missense_Mutation_p.G791C|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1310	EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTCAATGGAGGTCTGTGCCA	0.488000													132	347					7.72529e-55	1.21171e-54	1	1	0
PRR23A	729627	broad.mit.edu	37	3	138724627	138724627	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:138724627G>C	ENST00000383163.2	-	1	483	c.484C>G	c.(484-486)Ccc>Gcc	p.P162A		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	162										endometrium(3)|kidney(1)|lung(7)	11						GGAAACTCGGGGTCCGCGTCC	0.657000													16	46					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93159896	93159896	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:93159896T>A	ENST00000370331.1	-	8	1100	c.1091A>T	c.(1090-1092)cAg>cTg	p.Q364L	EVI5_ENST00000540033.1_Missense_Mutation_p.Q364L|EVI5_ENST00000543509.1_Missense_Mutation_p.Q364L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	364	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CAGTTCTGCCTGATTCATCTG	0.333000													19	123					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056320	9056320	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:9056320A>G	ENST00000397910.4	-	3	31329	c.31126T>C	c.(31126-31128)Ttg>Ctg	p.L10376L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10378	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						ACCATAACCAAGCGTCCTTCA	0.498000													7	196					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717864	26717864	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:26717864G>A	ENST00000272371.2	-	9	969	c.843C>T	c.(841-843)gaC>gaT	p.D281D	OTOF_ENST00000403946.3_Silent_p.D281D	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	281	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCTTGTCGTCACCCACCT	0.582000													11	154					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32560779	32560779	+	Missense_Mutation	SNP	G	G	A	rs138540076	byFrequency	TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:32560779G>A	ENST00000319778.6	-	13	2374	c.2072C>T	c.(2071-2073)aCg>aTg	p.T691M	EPC1_ENST00000263062.8_Missense_Mutation_p.T714M|EPC1_ENST00000375110.2_Missense_Mutation_p.T641M	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	714					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGAACCTGCCGTTGATGGACT	0.413000													14	150					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397046	397046	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:397046G>T	ENST00000331563.2	+	3	621	c.545G>T	c.(544-546)cGc>cTc	p.R182L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	182					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTCCCTGCGCTCGCTGCGG	0.716000													10	83					3.07112e-06	3.5341e-06	1	1	0
AMER3	205147	broad.mit.edu	37	2	131519854	131519854	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:131519854C>T	ENST00000423981.1	+	2	319	c.209C>T	c.(208-210)gCg>gTg	p.A70V	AMER3_ENST00000321420.4_Missense_Mutation_p.A70V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AACAAAGGGGCGCAGCTGGAC	0.632000													6	15					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643307	1643307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:1643307C>A	ENST00000399682.1	-	1	61	c.17G>T	c.(16-18)tGc>tTc	p.C6F		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	6						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gcctcCAGAGCAGCCACAGCA	0.687000													32	284					2.20474e-14	2.92687e-14	1	1	0
ZNF251	90987	broad.mit.edu	37	8	145948486	145948486	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:145948486C>G	ENST00000292562.7	-	5	834	c.559G>C	c.(559-561)Gat>Cat	p.D187H	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	187					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)		AAGTTTCTATCAAATGCACTA	0.373000													11	316					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137547	63137547	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:63137547C>G	ENST00000279178.3	+	1	268	c.19C>G	c.(19-21)Ctg>Gtg	p.L7V	SLC22A9_ENST00000310969.4_Missense_Mutation_p.L7V	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	7					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TCAGGACCTCCTGGGTCACGC	0.443000													27	145					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084345	152084345	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:152084345C>G	ENST00000368804.1	-	2	1347	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	450	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcctgctcgcgcttcagc	0.682000													4	278					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132126	59132126	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:59132126T>C	ENST00000313940.2	+	1	242	c.195T>C	c.(193-195)agT>agC	p.S65S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCTTCCTCAGTAACCTGTCCT	0.443000													67	296					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1417237	1417237	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:1417237C>A	ENST00000421807.2	-	2	469	c.81G>T	c.(79-81)gcG>gcT	p.A27A	INPP5K_ENST00000397335.3_Intron|INPP5K_ENST00000320345.6_5'UTR|INPP5K_ENST00000406424.4_5'UTR|INPP5K_ENST00000542125.1_Silent_p.A27A	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	27	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	p.A27A(1)		endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CTAGAGGGGGCGCTGCCGAAG	0.542000													18	106					1.01871e-10	1.28887e-10	1	1	0
TBC1D23	55773	broad.mit.edu	37	3	99998523	99998523	+	Silent	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:99998523A>C	ENST00000394144.4	+	2	91	c.84A>C	c.(82-84)gcA>gcC	p.A28A	TBC1D23_ENST00000344949.5_Silent_p.A28A|TBC1D23_ENST00000475134.1_5'UTR|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	28						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CTCTGGAAGCAGGAGGTTGTG	0.338000													10	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071027	9071027	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:9071027C>G	ENST00000397910.4	-	3	16622	c.16419G>C	c.(16417-16419)caG>caC	p.Q5473H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5475	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						TTTGGTTAGTCTGAGAGATAT	0.498000													28	125					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178506	142178506	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:142178506G>C	ENST00000519811.1	+	13	2227	c.2157G>C	c.(2155-2157)aaG>aaC	p.K719N	DENND3_ENST00000424248.1_Missense_Mutation_p.K587N|DENND3_ENST00000262585.2_Missense_Mutation_p.K639N			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	639										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCACGTGAAGAAGTTCAAGC	0.612000													4	245					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165090	139165090	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:139165090G>A	ENST00000395297.1	-	13	1798	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	543										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCATCCTCTGGACCTGGACT	0.507000										HNSCC(54;0.14)			15	196					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964841	119964841	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:119964841G>T	ENST00000543831.1	+	4	966	c.717G>T	c.(715-717)ctG>ctT	p.L239L	HSD3B2_ENST00000369416.3_Silent_p.L239L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	239					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TGAGGGCTCTGCGGGACCCCA	0.502000													14	117					1.05317e-09	1.32151e-09	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814577	137814577	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:137814577C>A	ENST00000409968.1	+	3	905	c.727C>A	c.(727-729)Ctt>Att	p.L243I	THSD7B_ENST00000543459.1_Missense_Mutation_p.L102I|THSD7B_ENST00000413152.2_Missense_Mutation_p.L212I|THSD7B_ENST00000272643.3_Missense_Mutation_p.L243I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TACATTTAGCCTTAAGGTTGG	0.433000													26	272					4.7796e-09	5.83749e-09	1	1	0
NDST4	64579	broad.mit.edu	37	4	115773939	115773939	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:115773939G>T	ENST00000264363.2	-	8	2436	c.1758C>A	c.(1756-1758)tcC>tcA	p.S586S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	586	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTTCTCTCTGGACCAGATGT	0.353000													5	73					0.0293803	0.0297703	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125192189	125192189	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:125192189C>A	ENST00000431078.1	+	5	1022	c.658C>A	c.(658-660)Cat>Aat	p.H220N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	220	Laminin G-like 1.				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)		GGTCCTGTTCCATGGAGAAGG	0.498000													8	95					0.0477658	0.0481866	1	1	0
ACP2	53	broad.mit.edu	37	11	47267033	47267033	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:47267033G>A	ENST00000256997.3	-	5	657	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ACP2_ENST00000537863.1_Intron|ACP2_ENST00000533929.1_Missense_Mutation_p.R153W|ACP2_ENST00000527256.1_Missense_Mutation_p.R149W|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000529444.1_Intron	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	181						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ACTGCATTCCGAGAACTCTCA	0.547000													27	140					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89109347	89109347	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:89109347A>C	ENST00000554922.1	-	31	4375	c.4127T>G	c.(4126-4128)aTt>aGt	p.I1376S	EML5_ENST00000352093.5_Missense_Mutation_p.I1330S|EML5_ENST00000380664.5_Missense_Mutation_p.I1368S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1368						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAACCAAAAATGAGCTCCAA	0.323000													6	141					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945184	227945184	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:227945184C>T	ENST00000396625.3	-	24	1985	c.1778G>A	c.(1777-1779)gGa>gAa	p.G593E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G593E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	593	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTTTTTCTCCAGCATGTCC	0.463000													12	288					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969149	118969149	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:118969149G>T	ENST00000334549.1	+	3	494	c.494G>T	c.(493-495)cGg>cTg	p.R165L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	165						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCTTATAATCGGTTCCGAAAA	0.502000													56	217					1.0442e-30	1.59414e-30	1	1	0
TIMM9	26520	broad.mit.edu	37	14	58877570	58877570	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:58877570T>C	ENST00000395159.2	-	5	651	c.126A>G	c.(124-126)aaA>aaG	p.K42K	RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000556007.2_Silent_p.K42K|TIMM9_ENST00000555593.1_Silent_p.K42K|TIMM9_ENST00000216463.4_5'UTR|TIMM9_ENST00000555061.1_Silent_p.K42K|TIMM9_ENST00000555404.1_Silent_p.K42K	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	42					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			kidney(2)|skin(1)	3						CCTCTTCAGGTTTTACTTCTC	0.358000													26	159					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													4	149					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877409	2877409	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:2877409G>T	ENST00000586426.1	+	4	537	c.450G>T	c.(448-450)caG>caT	p.Q150H	ZNF556_ENST00000307635.2_Missense_Mutation_p.Q151H			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGCAGTCAGTGTGGAAAAC	0.403000													27	139					3.65163e-15	4.90453e-15	1	1	0
MID2	11043	broad.mit.edu	37	X	107167715	107167715	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:107167715T>C	ENST00000262843.6	+	8	2126	c.1578T>C	c.(1576-1578)ccT>ccC	p.P526P	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.P496P	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	526	B30.2/SPRY.|Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ACAGTGAACCTACCCGACTAA	0.473000													22	56					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117003755	117003755	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:117003755T>C	ENST00000284629.2	-	13	1385	c.1323A>G	c.(1321-1323)gaA>gaG	p.E441E		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	441					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TAGATACTTCTTCCCTTAATT	0.328000													18	83					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580575	580575	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr18:580575C>A	ENST00000327228.3	+	1	209	c.167C>A	c.(166-168)gCc>gAc	p.A56D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	56	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CTGAAGGTGGCCATGAGAGCG	0.552000													20	56					1.37657e-19	1.96407e-19	1	1	0
LRP2	4036	broad.mit.edu	37	2	170042429	170042429	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:170042429G>T	ENST00000263816.3	-	50	9714	c.9429C>A	c.(9427-9429)ctC>ctA	p.L3143L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3143	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGTCAGACATGAGCTTGTAAC	0.443000													19	135					3.8784e-16	5.33426e-16	1	1	0
MME	4311	broad.mit.edu	37	3	154855959	154855959	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:154855959C>T	ENST00000460393.1	+	9	909	c.789C>T	c.(787-789)ccC>ccT	p.P263P	MME_ENST00000360490.2_Silent_p.P263P|MME_ENST00000492661.1_Silent_p.P263P|MME_ENST00000493237.1_Silent_p.P263P|MME_ENST00000462745.1_Silent_p.P263P	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	263					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.P263P(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AAAGATTGCCCATCGATGAAA	0.343000													71	197					0	0	1	0	0
PYDC2	152138	broad.mit.edu	37	3	191178955	191178955	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:191178955G>A	ENST00000518817.1	+	1	4	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	2	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GGACAAGATGGCATCTTCTGC	0.443000													4	182					0	0	1	0	0
WBP5	51186	broad.mit.edu	37	X	102612717	102612717	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:102612717A>G	ENST00000372661.3	+	3	416	c.105A>G	c.(103-105)ctA>ctG	p.L35L	WBP5_ENST00000372656.3_Silent_p.L35L	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	35	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGGAGAAGCTAGAGGAGGAGG	0.418000													35	68					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192188	125192188	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:125192188C>A	ENST00000431078.1	+	5	1021	c.657C>A	c.(655-657)ttC>ttA	p.F219L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	219	Laminin G-like 1.				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)		GGGTCCTGTTCCATGGAGAAG	0.502000													8	95					0.0477658	0.0481866	1	1	0
ACKR3	57007	broad.mit.edu	37	2	237489987	237489987	+	Silent	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:237489987C>G	ENST00000272928.3	+	2	1189	c.879C>G	c.(877-879)ctC>ctG	p.L293L		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		AGCACGCCCTCTTCACGGCCC	0.587000													4	261					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	396858	396858	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:396858G>A	ENST00000432829.2	+	25	3156	c.2840G>A	c.(2839-2841)cGt>cAt	p.R947H	DOCK8_ENST00000469391.1_Missense_Mutation_p.R915H|DOCK8_ENST00000382329.1_Missense_Mutation_p.R482H|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1015H|DOCK8_ENST00000382331.1_Missense_Mutation_p.R317H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1015					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTTCTGACCGTTTCATGGAT	0.433000													10	227					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85781564	85781564	+	Splice_Site	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:85781564C>A	ENST00000322366.6	-	4	588		c.e4+1		WDFY3_ENST00000295888.4_Splice_Site			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTGGACTTACCCTGTTAAAC	0.507000													15	118					2.35188e-11	3.00883e-11	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													8	32					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080829	126080829	+	Missense_Mutation	SNP	G	G	C	rs113023735		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:126080829G>C	ENST00000368364.3	+	5	1092	c.895G>C	c.(895-897)Gcg>Ccg	p.A299P	HEY2_ENST00000368365.1_Missense_Mutation_p.A253P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	299	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AGCAGTGGCCGCGGCCACAGC	0.647000													24	348					0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10525765	10525765	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:10525765A>G	ENST00000240618.6	-	8	739	c.599T>C	c.(598-600)aTa>aCa	p.I200T	KLRK1_ENST00000540818.1_Missense_Mutation_p.I200T|RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	200	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ACAGTTTTCTATATAGCCTTT	0.373000													48	171					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653279	130653279	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:130653279G>C	ENST00000373146.1	-	5	520	c.341C>G	c.(340-342)tCc>tGc	p.S114C	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.S114C|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.S114C|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.S80C|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.S80C			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	114	Poly-Ser.				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						CAGGTGGCTGGAGCTGCTGAC	0.582000													5	88					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363718	13363718	+	Silent	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:13363718C>G	ENST00000254508.5	-	35	4972	c.4890G>C	c.(4888-4890)gtG>gtC	p.V1630V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1630					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACTGTGGCTCCACGGTGAACA	0.537000													45	163					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78256510	78256510	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:78256510T>C	ENST00000354212.4	-	3	717	c.464A>G	c.(463-465)tAt>tGt	p.Y155C	MAGI2_ENST00000522391.1_Missense_Mutation_p.Y155C|MAGI2_ENST00000419488.1_Missense_Mutation_p.Y155C|MAGI2_ENST00000536571.1_5'UTR|MAGI2_ENST00000535697.1_5'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	155	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GATGAAAATATAATCCACTCC	0.398000													13	90					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89874783	89874783	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:89874783C>T	ENST00000389297.4	+	1	296	c.45C>T	c.(43-45)tcC>tcT	p.S15S	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Silent_p.S15S|C7orf63_ENST00000316089.8_Silent_p.S15S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	15							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCCAGGAATCCGGCATCAGGA	0.637000													11	315					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16793298	16793298	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:16793298A>T	ENST00000187762.2	+	4	624	c.533A>T	c.(532-534)aAc>aTc	p.N178I		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	178						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CCAGAGACCAACGAGATCCTG	0.562000													21	94					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59449	59449	+	Splice_Site	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:59449G>T	ENST00000509152.2	+	2	315	c.130_splice	c.e2+1	p.G44_splice	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Splice_Site_p.G44_splice					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GGTCTCCCTGGGTGAGGATAA	0.413000													22	848					2.89027e-11	3.66688e-11	1	1	0
KCNQ1	3784	broad.mit.edu	37	11	2683297	2683297	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:2683297C>G	ENST00000155840.5	+	11	1608	c.1500C>G	c.(1498-1500)atC>atG	p.I500M	KCNQ1OT1_ENST00000597346.1_RNA|KCNQ1_ENST00000335475.5_Missense_Mutation_p.I373M	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	500					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGACACCCATCACCCACATCT	0.582000													12	227					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294648	124294648	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:124294648C>A	ENST00000356130.3	-	1	141	c.120G>T	c.(118-120)gtG>gtT	p.V40V		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		CCAAGTTGCCCACCACAGTGA	0.438000													17	117					5.3912e-06	6.15753e-06	1	1	0
NPSR1	387129	broad.mit.edu	37	7	34888169	34888169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:34888169G>T	ENST00000360581.1	+	8	1047	c.919G>T	c.(919-921)Gag>Tag	p.E307*	NPSR1_ENST00000531252.1_Nonsense_Mutation_p.E296*|NPSR1_ENST00000381539.3_Nonsense_Mutation_p.E307*|NPSR1_ENST00000359791.1_Nonsense_Mutation_p.E307*|NPSR1_ENST00000381542.1_Nonsense_Mutation_p.E241*	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	307						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGACACCCAGGAGCGTTTCTA	0.488000													83	347					2.13026e-44	3.31857e-44	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961704	34961704	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:34961704C>A	ENST00000329357.5	+	1	792	c.756C>A	c.(754-756)ccC>ccA	p.P252P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	252	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGATCCTCCCGAGACTGGAG	0.637000													4	140					0.00909568	0.0093614	1	1	0
RGS6	9628	broad.mit.edu	37	14	72818888	72818888	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:72818888C>A	ENST00000553530.1	+	3	377	c.170C>A	c.(169-171)cCc>cAc	p.P57H	RGS6_ENST00000402788.2_Missense_Mutation_p.P57H|RGS6_ENST00000404301.2_Missense_Mutation_p.P57H|RGS6_ENST00000343854.6_Missense_Mutation_p.P57H|RGS6_ENST00000355512.6_Missense_Mutation_p.P57H|RGS6_ENST00000553525.1_Missense_Mutation_p.P57H|RGS6_ENST00000556437.1_Missense_Mutation_p.P57H|RGS6_ENST00000407322.4_Missense_Mutation_p.P57H|RGS6_ENST00000555571.1_Missense_Mutation_p.P57H|RGS6_ENST00000406236.4_Missense_Mutation_p.P57H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	57	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCCAAAATCCCCAGTGTCGTC	0.458000													6	41					2.0095e-06	2.31826e-06	1	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251865	25251865	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:25251865T>C	ENST00000328086.7	-	7	2979	c.2176A>G	c.(2176-2178)Atg>Gtg	p.M726V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	726					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGCTGAGACATCGGCTTTCCC	0.463000													19	98					0	0	1	0	0
IFI35	3430	broad.mit.edu	37	17	41165492	41165492	+	Splice_Site	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:41165492G>A	ENST00000415816.2	+	5	598		c.e5-1		IFI35_ENST00000438323.2_Splice_Site	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TCTCCCCCTAGATGTCCAGCC	0.577000													80	286					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629483	1629483	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:1629483C>A	ENST00000399685.1	-	1	210	c.133G>T	c.(133-135)Gtg>Ttg	p.V45L		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	45	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CAGCAGCACACGGGCTTGCAG	0.682000													70	385					8.92729e-27	1.35387e-26	1	1	0
TNFAIP3	7128	broad.mit.edu	37	6	138199568	138199568	+	Splice_Site	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:138199568G>T	ENST00000237289.4	+	7	1052		c.e7-1		TNFAIP3_ENST00000485192.1_Splice_Site	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3						anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.?(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTGGTCTTCAGGTTGGATGAA	0.343000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								9	52					7.48243e-07	8.74223e-07	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145157607	145157607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:145157607C>A	ENST00000558170.2	-	8	2331	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E383*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E359*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E383*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	383						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTGTCTGTTCAGACATACTA	0.388000													23	108					1.28384e-07	1.51546e-07	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87943198	87943198	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:87943198C>A	ENST00000369577.3	+	5	737	c.694C>A	c.(694-696)Ctt>Att	p.L232I	ZNF292_ENST00000339907.4_Missense_Mutation_p.L227I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCAAACTTACCTTGTCTGTCT	0.323000													4	245					1	1	1	1	0
ABCD2	225	broad.mit.edu	37	12	40012846	40012846	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:40012846T>C	ENST00000308666.3	-	1	707	c.572A>G	c.(571-573)cAg>cGg	p.Q191R		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	191	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATAATAAGTCTGATTTGTAAA	0.433000													42	150					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61544832	61544832	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:61544832A>C	ENST00000278836.5	+	12	1783	c.1687A>C	c.(1687-1689)Aac>Cac	p.N563H	MYRF_ENST00000265460.5_Missense_Mutation_p.N554H|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.N188H	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CGTGGGCATCAACACAGACCG	0.647000													11	100					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348315	155348315	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:155348315G>A	ENST00000368346.3	-	9	6856	c.6217C>T	c.(6217-6219)Cta>Tta	p.L2073L	ASH1L_ENST00000392403.3_Silent_p.L2068L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2073					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCTTATATAGTGGGACATCT	0.338000													5	171					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60043908	60043908	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:60043908T>C	ENST00000397786.2	-	19	4372	c.4296A>G	c.(4294-4296)gcA>gcG	p.A1432A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1432					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAAACCATTCTGCTACCAACT	0.393000													58	97					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33662027	33662027	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:33662027A>G	ENST00000504830.1	-	6	1369	c.1034T>C	c.(1033-1035)cTc>cCc	p.L345P	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L345P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	345	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTACCTGGTGAGAAGGACAGC	0.502000										HNSCC(64;0.19)			39	158					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188662	6188662	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:6188662C>T	ENST00000262450.3	-	24	3726	c.3627G>A	c.(3625-3627)atG>atA	p.M1209I	CHD5_ENST00000378021.1_Missense_Mutation_p.M66I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1209					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCCCTGAGACATCATGCCTG	0.622000													9	57					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100897316	100897316	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:100897316T>C	ENST00000369208.3	-	6	1248	c.466A>G	c.(466-468)Atc>Gtc	p.I156V	SIM1_ENST00000262901.4_Missense_Mutation_p.I156V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	156					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGCGCTCGATCTCATACTCT	0.597000													4	75					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776618	77776618	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:77776618A>G	ENST00000521891.2	+	11	11116	c.10668A>G	c.(10666-10668)tcA>tcG	p.S3556S	ZFHX4_ENST00000455469.2_Silent_p.S3511S|ZFHX4_ENST00000518282.1_Silent_p.S3530S|ZFHX4_ENST00000050961.6_Silent_p.S3507S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3507						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)			CGGTTACCTCAAGTTTGTGCA	0.498000										HNSCC(33;0.089)			25	172					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728577	50728577	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr22:50728577C>A	ENST00000449103.1	-	3	577	c.437G>T	c.(436-438)aGc>aTc	p.S146I	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S146I			O15031	PLXB2_HUMAN	plexin B2	146	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCATCATTGCTGGCCACGAA	0.637000													9	41					1.12685e-05	1.26805e-05	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40400506	40400506	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:40400506C>A	ENST00000338305.6	-	2	889	c.347G>T	c.(346-348)gGg>gTg	p.G116V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	116						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTGTCCTCCCCAAGGCTTGG	0.592000													15	80					2.31682e-05	2.58806e-05	1	1	0
C5orf51	285636	broad.mit.edu	37	5	41904560	41904560	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:41904560G>A	ENST00000381647.2	+	1	110	c.91G>A	c.(91-93)Ggt>Agt	p.G31S	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	31										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGAAGCTGCCGGTGAAGATGG	0.637000													11	53					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116430570	116430570	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:116430570C>G	ENST00000395715.3	-	6	3388	c.2811G>C	c.(2809-2811)caG>caC	p.Q937H	TRPS1_ENST00000220888.5_Missense_Mutation_p.Q924H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q928H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q678H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	924					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTGAAGCTTCTGGTAGAGGC	0.488000									Langer-Giedion syndrome				7	228					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201286816	201286816	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:201286816C>G	ENST00000263946.3	+	5	1214	c.963C>G	c.(961-963)aaC>aaG	p.N321K	PKP1_ENST00000367324.3_Missense_Mutation_p.N321K|PKP1_ENST00000352845.3_Missense_Mutation_p.N321K|PKP1_ENST00000475988.1_3'UTR	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	321					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCACCACCAACAAGCTGGAGA	0.642000													27	121					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981598	40981598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:40981598G>T	ENST00000313164.9	+	18	2814	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	819	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCTGAGTGTGAGGCGGGCGC	0.572000													4	52					0.00909568	0.0093614	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72973958	72973958	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:72973958C>T	ENST00000262209.4	-	7	1053	c.846G>A	c.(844-846)caG>caA	p.Q282Q		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	282						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGTGGCTCCCTGGGTGGCAG	0.403000													14	137					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525742	76525742	+	Silent	SNP	T	T	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:76525742T>G	ENST00000389840.5	-	22	3443	c.3319A>C	c.(3319-3321)Aga>Cga	p.R1107R	DNAH17_ENST00000585328.1_Silent_p.R1104R					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGCCCATTCTGGCGACTTTC	0.592000													30	78					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48338012	48338012	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:48338012G>C	ENST00000435803.1	+	23	9273	c.9249G>C	c.(9247-9249)gaG>gaC	p.E3083D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3083					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGACTGAGGAGCTTCGCTCTT	0.353000													15	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	84					3.28513e-13	4.33599e-13	1	1	0
CASC10	399726	broad.mit.edu	37	10	21784724	21784724	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:21784724G>A	ENST00000377113.5	-	2	663	c.216C>T	c.(214-216)caC>caT	p.H72H		NM_001010911.2	NP_001010911.1			cancer susceptibility candidate 10																		TGGGAACCCGGTGGTGCCACC	0.751000											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	48					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555276	41555276	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:41555276G>A	ENST00000378142.4	+	3	674	c.390G>A	c.(388-390)gtG>gtA	p.V130V	CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Silent_p.V130V|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	130						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GCAAGGTTGTGGGAACACTGT	0.383000													6	207					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830200	13830200	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr20:13830200G>A	ENST00000284951.5	-	20	2072	c.1998C>T	c.(1996-1998)caC>caT	p.H666H	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.H553H			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	666						integral to membrane	binding	p.H666Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATAAGTCCCAGTGTGGTCCAA	0.483000													28	127					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411633	51411633	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:51411633A>G	ENST00000319760.6	-	1	815	c.763T>C	c.(763-765)Tat>Cat	p.Y255H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGTCTAACATATATGAAAATA	0.383000													14	83					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134102714	134102714	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:134102714C>T	ENST00000452510.2	+	3	472	c.314C>T	c.(313-315)tCc>tTc	p.S105F	DDX46_ENST00000354283.4_Missense_Mutation_p.S105F	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	105					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCGATCCTCCAGTCCTGGA	0.507000													5	97					0	0	1	0	0
CYP20A1	57404	broad.mit.edu	37	2	204150334	204150334	+	Splice_Site	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:204150334G>T	ENST00000356079.4	+	9	973		c.e9-1		CYP20A1_ENST00000429815.2_Splice_Site|CYP20A1_ENST00000461371.1_Splice_Site	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1							integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GTTTGACCTAGTGTGTACCTG	0.318000													13	119					6.31663e-08	7.57334e-08	1	1	0
CEACAM4	1089	broad.mit.edu	37	19	42132124	42132124	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:42132124C>A	ENST00000221954.2	-	2	385	c.275G>T	c.(274-276)gGg>gTg	p.G92V	CEACAM4_ENST00000600925.1_Missense_Mutation_p.G92V	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	92	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GTATGCGGCCCCTGGGATATT	0.488000													11	286					9.04627e-18	1.26317e-17	1	1	0
MC1R	4157	broad.mit.edu	37	16	89986056	89986056	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:89986056C>T	ENST00000555427.1	+	3	2693	c.390C>T	c.(388-390)tcC>tcT	p.S130S	MC1R_ENST00000555147.1_Silent_p.S130S|TUBB3_ENST00000556922.1_Silent_p.S130S					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCATGCTGTCCAGCCTCTGCT	0.652000									Melanoma, Familial Clustering of				17	154					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996111	57996111	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:57996111G>T	ENST00000316770.2	-	1	279	c.237C>A	c.(235-237)acC>acA	p.T79T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T79T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTACTACCACGGTGGTGTAGC	0.542000													12	135					4.7546e-09	5.83749e-09	1	1	0
CRYBA1	1411	broad.mit.edu	37	17	27581351	27581351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:27581351G>A	ENST00000225387.3	+	6	633	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	211	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CAATCGATTCGCCGAATCCAA	0.438000													20	193					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175442	159175442	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:159175442G>T	ENST00000537147.1	+	3	1056	c.213G>T	c.(211-213)ctG>ctT	p.L71L	DARC_ENST00000368122.2_Silent_p.L71L|DARC_ENST00000368121.2_Silent_p.L73L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	71					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCAGTGTCCTGGGTATCCTAG	0.587000													61	228					3.76628e-20	5.40739e-20	1	1	0
GAGE10	643832	broad.mit.edu	37	X	49161410	49161410	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:49161410G>T	ENST00000407599.3	+	2	165	c.72G>T	c.(70-72)ggG>ggT	p.G24G		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	24										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AAATGATTGGGCCTATGCTGG	0.393000													102	187					2.65435e-51	4.14912e-51	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22360122	22360122	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:22360122G>C	ENST00000263160.3	+	1	480	c.43G>C	c.(43-45)Ggg>Cgg	p.G15R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	15					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGGAAAAGAGGGGCTAAAGAA	0.443000													13	105					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441864	114441864	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:114441864G>T	ENST00000375478.3	-	6	1611	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	NXPE4_ENST00000424261.2_Silent_p.I193I	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ACATCTCCCTGATGTTTTCTG	0.388000													9	156					2.17888e-05	2.4459e-05	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814435	106814435	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:106814435T>A	ENST00000407775.2	+	8	2375	c.2125T>A	c.(2125-2127)Tac>Aac	p.Y709N	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Y440N|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Y577N|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Y577N	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	709					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAACAGTATTACTGTGCTAC	0.507000													5	91					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526585	97526585	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:97526585C>A	ENST00000305476.5	-	15	2412	c.2280G>T	c.(2278-2280)tcG>tcT	p.S760S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	760	Pro-rich.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTGGAGGTGGCGAAGGGGGCC	0.592000													15	169					1.52009e-12	1.98348e-12	1	1	0
CD5L	922	broad.mit.edu	37	1	157803097	157803097	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:157803097G>C	ENST00000368174.4	-	5	1020	c.924C>G	c.(922-924)atC>atG	p.I308M		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	308	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TATCCAGCCAGATGCGGCCAA	0.577000													9	235					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601439	75601439	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:75601439C>A	ENST00000549446.1	-	2	1005	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C	KCNC2_ENST00000341669.3_Missense_Mutation_p.G109C|KCNC2_ENST00000298972.1_Missense_Mutation_p.G109C|KCNC2_ENST00000548513.1_Missense_Mutation_p.G109C|KCNC2_ENST00000393288.2_Missense_Mutation_p.G109C|KCNC2_ENST00000350228.2_Missense_Mutation_p.G109C|KCNC2_ENST00000550433.1_Missense_Mutation_p.G109C|KCNC2_ENST00000540018.1_Missense_Mutation_p.G109C	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	109					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCGAAGACGCCCGGGTGCCGG	0.701000													5	48					0.00198382	0.00209352	1	1	0
ZNF415	55786	broad.mit.edu	37	19	53612707	53612707	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:53612707G>A	ENST00000455735.2	-	7	1055	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.F245F|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.F209F|ZNF415_ENST00000243643.4_Silent_p.F197F|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.F184F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.F197F			Q09FC8	ZN415_HUMAN	zinc finger protein 415	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AAGAACAGATGAAATCAGTCC	0.378000													33	127					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10124201	10124201	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:10124201A>T	ENST00000591589.1	+	1	277	c.88A>T	c.(88-90)Atc>Ttc	p.I30F	RDH8_ENST00000171214.1_Missense_Mutation_p.I10F			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	10					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GACTGTGTTGATCTCCGGCTG	0.597000													37	145					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77607299	77607299	+	Splice_Site	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:77607299G>C	ENST00000461745.1	+	9	2336	c.1437_splice	c.e9+1	p.R479_splice	ROBO2_ENST00000332191.8_Splice_Site_p.R479_splice|ROBO2_ENST00000487694.3_Splice_Site_p.R495_splice	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	479	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R495Q(1)|p.R479Q(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAATTTACGGGTAAGTAAT	0.358000													4	121					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023707	167023707	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:167023707G>A	ENST00000392766.2	-	17	1789	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ZBBX_ENST00000392767.2_Silent_p.I483I|ZBBX_ENST00000392764.1_Silent_p.I454I|ZBBX_ENST00000455345.2_Silent_p.I483I|ZBBX_ENST00000307529.5_Silent_p.I483I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	483						intracellular	zinc ion binding	p.I483I(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAGGATCCACGATGTTGTCAA	0.284000													3	50					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970819	151970819	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:151970819G>T	ENST00000355193.2	-	7	1201	c.983C>A	c.(982-984)cCa>cAa	p.P328Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.P328Q					lysine (K)-specific methyltransferase 2C																		AATGTGTTCTGGACAAAGCAG	0.378000													17	598					1.77063e-15	2.42074e-15	1	1	0
OR14K1	343170	broad.mit.edu	37	1	247902446	247902446	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:247902446G>A	ENST00000283225.2	+	1	530	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CAGTTCTTCTGCGATGTCCCT	0.458000													119	393					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91360904	91360904	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:91360904T>C	ENST00000261991.3	-	13	1670	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	RPS6KA5_ENST00000418736.2_Silent_p.E499E|RPS6KA5_ENST00000536315.2_Silent_p.E420E	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	499	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CATTCAGAAGTTCCATCACTA	0.403000													7	71					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882644	51882644	+	Splice_Site	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:51882644G>T	ENST00000453097.2	+	18	2665	c.2448_splice	c.e18+1	p.K816_splice	SLC4A8_ENST00000358657.3_Splice_Site_p.K843_splice	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	816					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATAAGCTCAAGGTAAAAAGAG	0.398000													11	125					7.03913e-09	8.55151e-09	1	1	0
DDX11	1663	broad.mit.edu	37	12	31238023	31238023	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:31238023G>A	ENST00000251758.5	+	5	852	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	DDX11_ENST00000407793.2_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000545668.1_Missense_Mutation_p.E201K			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	201	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTCCTCGCCGAATACGAGAG	0.617000										Multiple Myeloma(12;0.14)			4	24					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655176	31655176	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr21:31655176A>G	ENST00000340345.4	-	1	100	c.75T>C	c.(73-75)taT>taC	p.Y25Y		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	25						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TCACTGGGATATAACAGTGAG	0.502000													10	71					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34571909	34571909	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr20:34571909G>T	ENST00000373973.3	+	5	586	c.413G>T	c.(412-414)gGt>gTt	p.G138V	CNBD2_ENST00000538900.1_Missense_Mutation_p.G138V|CNBD2_ENST00000349339.1_Missense_Mutation_p.G138V					cyclic nucleotide binding domain containing 2																		CCCAGGTTTGGTCGCAGGCGT	0.522000													25	141					3.65163e-15	4.90453e-15	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40366207	40366207	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:40366207C>G	ENST00000221347.6	-	30	14034	c.14027G>C	c.(14026-14028)gGc>gCc	p.G4676A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4676	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCAGCGGGCCGTCGGTGGC	0.701000													6	107					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150748969	150748969	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:150748969T>C	ENST00000357922.4	+	7	1881	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	ASIC3_ENST00000297512.8_Silent_p.Y429Y|ASIC3_ENST00000349064.5_Silent_p.Y429Y	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	429					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGAAGGCCTATGAGATGTCAG	0.587000													5	179					0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170883658	170883658	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:170883658G>T	ENST00000274625.5	+	5	1017	c.473G>T	c.(472-474)cGg>cTg	p.R158L		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	158					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGAAGGGGCGGCCGCGGAAG	0.592000													66	308					1.15062e-32	1.76249e-32	1	1	0
BRDT	676	broad.mit.edu	37	1	92459693	92459693	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:92459693G>T	ENST00000370389.2	+	15	2874	c.1950G>T	c.(1948-1950)caG>caT	p.Q650H	BRDT_ENST00000362005.3_Missense_Mutation_p.Q723H|BRDT_ENST00000402388.1_Missense_Mutation_p.Q723H|BRDT_ENST00000394530.3_Missense_Mutation_p.Q677H|BRDT_ENST00000399546.2_Missense_Mutation_p.Q723H	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	723	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTGTTCATCAGACCACACCTT	0.343000													19	188					8.34094e-07	9.72048e-07	1	1	0
BAI3	577	broad.mit.edu	37	6	69772871	69772871	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:69772871G>T	ENST00000370598.1	+	16	3200	c.2379G>T	c.(2377-2379)agG>agT	p.R793S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	793					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCACAATAAGGCCTGAACCCA	0.363000													26	118					7.38237e-10	9.2888e-10	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134346355	134346355	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:134346355G>T	ENST00000357304.4	+	13	2147	c.2092G>T	c.(2092-2094)Gcc>Tcc	p.A698S	PRRC2B_ENST00000405995.1_Missense_Mutation_p.A698S|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.A698S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	698							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTACCCCTCCGCCCTGCATCC	0.577000													11	29					6.40141e-05	7.04771e-05	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73453385	73453385	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:73453385G>A	ENST00000263666.4	-	4	1194	c.1080C>T	c.(1078-1080)acC>acT	p.T360T	PDZRN3_ENST00000535920.1_Silent_p.T82T|PDZRN3_ENST00000479530.1_Silent_p.T77T|PDZRN3_ENST00000466780.1_Silent_p.T17T|PDZRN3_ENST00000462146.2_Silent_p.T17T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	360							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGTGATGTCGGTTTGGGTTC	0.522000													16	129					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210971081	210971081	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:210971081C>G	ENST00000367007.4	-	9	1772	c.1603G>C	c.(1603-1605)Gac>Cac	p.D535H	KCNH1_ENST00000271751.4_Missense_Mutation_p.D562H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	562					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCTCTCATGTCCTTGGGGCAG	0.602000													32	104					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23564386	23564386	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:23564386C>T	ENST00000262710.1	-	1	437	c.110G>A	c.(109-111)gGg>gAg	p.G37E	ACIN1_ENST00000555053.1_Missense_Mutation_p.G37E|ACIN1_ENST00000457657.1_Missense_Mutation_p.G37E|C14orf119_ENST00000319074.4_5'UTR	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	37					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCGCCAACGCCCTTCGAACGT	0.612000													30	133					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419131	55419131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:55419131C>A	ENST00000312422.2	+	1	752	c.752C>A	c.(751-753)cCc>cAc	p.P251H		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTTTCGGCCCCTGTACTTTT	0.473000													32	114					5.09552e-08	6.12532e-08	1	1	0
CDK17	5128	broad.mit.edu	37	12	96704943	96704943	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:96704943G>A	ENST00000261211.3	-	5	1033	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CDK17_ENST00000542666.1_Missense_Mutation_p.R91W|CDK17_ENST00000543119.2_Missense_Mutation_p.R144W	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	144							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AGTGATAACCGCTTATTTAAA	0.363000													16	59					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23093767	23093767	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:23093767A>G	ENST00000219689.7	-	12	1941	c.1942T>C	c.(1942-1944)Ttt>Ctt	p.F648L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	648					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACCTGCCGAAATCTCTTTAGA	0.473000													14	146					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178545979	178545979	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:178545979G>C	ENST00000432997.1	+	4	593	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	KCNMB2_ENST00000420517.2_Missense_Mutation_p.E81Q|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E81Q|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E81Q	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	81					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GTGGACCGAAGAGTCTCAATG	0.488000													39	119					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553768	19553768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:19553768G>T	ENST00000409832.3	+	1	404	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	118										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGCAAAGTGGGCCCTTGGGG	0.597000													81	1138					4.46356e-37	6.8601e-37	1	1	0
WRN	7486	broad.mit.edu	37	8	30938807	30938807	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:30938807A>T	ENST00000298139.5	+	9	1513	c.1264A>T	c.(1264-1266)Act>Tct	p.T422S		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	422					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTATAAATCTACTGAGGTACT	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				12	73					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9743614	9743614	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:9743614C>T	ENST00000296003.4	+	19	2032	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	MTMR14_ENST00000420925.1_Missense_Mutation_p.A279V|MTMR14_ENST00000353332.5_Missense_Mutation_p.A585V|MTMR14_ENST00000351233.5_Missense_Mutation_p.A525V	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	637						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)					GAGCAATTTGCCCGTGGTGTT	0.602000													4	224					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:37430948C>G	ENST00000374660.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423000													6	273					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391292	139391292	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:139391292C>A	ENST00000277541.6	-	34	6974	c.6899G>T	c.(6898-6900)gGg>gTg	p.G2300V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2300					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTGGTGGACCCGCCCACAGT	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			36	115					1.36161e-19	1.94881e-19	1	1	0
ITLN2	142683	broad.mit.edu	37	1	160924228	160924228	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:160924228T>C	ENST00000368029.3	-	2	85	c.28A>G	c.(28-30)Aga>Gga	p.R10G		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	10					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGCAGAGTCTGGTCATTGTC	0.507000											OREG0013934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739002	40739002	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr20:40739002C>T	ENST00000373198.3	-	24	3526	c.3291G>A	c.(3289-3291)ccG>ccA	p.P1097P	PTPRT_ENST00000373187.1_Silent_p.P1075P|PTPRT_ENST00000373190.1_Silent_p.P1074P|PTPRT_ENST00000373193.3_Silent_p.P1078P|PTPRT_ENST00000373201.1_Silent_p.P1065P|PTPRT_ENST00000356100.2_Silent_p.P1084P|PTPRT_ENST00000373184.1_Silent_p.P1085P	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCAGCTTCCGGGGGGTTGA	0.627000													16	72					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													4	65					1	1	1	1	0
EEPD1	80820	broad.mit.edu	37	7	36194113	36194113	+	Silent	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:36194113G>C	ENST00000242108.4	+	2	898	c.180G>C	c.(178-180)gtG>gtC	p.V60V	EEPD1_ENST00000534978.1_Silent_p.V60V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	60	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CGCGTGCCGTGGCACGCAGCA	0.582000													6	283					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74497136	74497136	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:74497136C>A	ENST00000437994.2	+	21	2948	c.2517C>A	c.(2515-2517)ccC>ccA	p.P839P	CD109_ENST00000422508.2_Silent_p.P762P|CD109_ENST00000287097.5_Silent_p.P839P	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	839						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						CTCTTTCACCCACTGCTTCTG	0.423000													4	175					0.00909568	0.0093614	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63053404	63053404	+	Splice_Site	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:63053404G>C	ENST00000263991.5	+	6	976		c.e6+1		EHBP1_ENST00000405289.1_Splice_Site|EHBP1_ENST00000405015.3_Splice_Site|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000431489.1_Splice_Site|EHBP1_ENST00000354487.3_Splice_Site	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1							cytoplasm|membrane		p.?(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAAAGCCACGTAAGTTTCTT	0.363000													5	165					0	0	1	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199005	90199005	+	RNA	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:90199005G>T	ENST00000390276.2	+	0	347																											CAGCTGGTTAGCCTGGTATCA	0.532000													38	176					9.57592e-29	1.45707e-28	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508197	37508197	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:37508197A>T	ENST00000374660.1	+	40	3845	c.3746A>T	c.(3745-3747)cAa>cTa	p.Q1249L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1130L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1130L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1186						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGGAAAAACAAGACAAAGAA	0.368000													38	172					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100340295	100340295	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:100340295A>T	ENST00000294724.4	+	8	1489	c.1011A>T	c.(1009-1011)caA>caT	p.Q337H	AGL_ENST00000370165.3_Missense_Mutation_p.Q337H|AGL_ENST00000361915.3_Missense_Mutation_p.Q337H|AGL_ENST00000361522.4_Missense_Mutation_p.Q320H|AGL_ENST00000370163.3_Missense_Mutation_p.Q337H|AGL_ENST00000361302.3_Missense_Mutation_p.Q321H|AGL_ENST00000370161.2_Missense_Mutation_p.Q321H|AGL_ENST00000477753.1_3'UTR	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	337					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CGATTATTCAAGATCCTGAAT	0.348000													19	78					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198273121	198273121	+	Silent	SNP	T	T	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:198273121T>G	ENST00000335508.5	-	8	1180	c.1089A>C	c.(1087-1089)ccA>ccC	p.P363P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	363	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTCATGGCTGGTGTGCCAA	0.428000			Mis		myelodysplastic syndrome								12	103					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79340202	79340202	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:79340202C>G	ENST00000264895.6	+	33	4965	c.4525C>G	c.(4525-4527)Ctg>Gtg	p.L1509V	FRAS1_ENST00000325942.6_Missense_Mutation_p.L1509V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1508					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTCTACCTCTGCATCCAAA	0.388000													5	149					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963261	96963261	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:96963261C>A	ENST00000323853.5	-	11	1294	c.1217G>T	c.(1216-1218)cGg>cTg	p.R406L	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R406L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	406						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAGAACCTGCCGTGGAGCCAG	0.507000													7	39					0.00307968	0.00323508	1	1	0
RABL6	55684	broad.mit.edu	37	9	139718065	139718065	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:139718065C>T	ENST00000371663.4	+	2	494	c.219C>T	c.(217-219)atC>atT	p.I73I	RABL6_ENST00000371671.4_Silent_p.I73I|RABL6_ENST00000357466.2_Silent_p.I73I|RABL6_ENST00000432842.2_Silent_p.I35I|RABL6_ENST00000311502.7_Silent_p.I73I	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3			RAB, member RAS oncogene family-like 6																		AGGAGTACATCCCCACACAGG	0.627000													5	37					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744803	154744803	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:154744803T>C	ENST00000271915.3	-	3	1411	c.1096A>G	c.(1096-1098)Atc>Gtc	p.I366V	KCNN3_ENST00000361147.4_Missense_Mutation_p.I61V|KCNN3_ENST00000358505.2_Missense_Mutation_p.I53V	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	371						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TCCAGGCTGATGTACAGGATG	0.597000													12	71					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92052930	92052930	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:92052930G>A	ENST00000285419.3	-	1	362	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	16						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TTCCGGAGTGGGATGCTGACA	0.642000													16	109					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724262	112724262	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:112724262C>A	ENST00000501255.2	-	3	1138	c.515G>T	c.(514-516)tGc>tTc	p.C172F	GPR85_ENST00000297146.2_Missense_Mutation_p.C172F|GPR85_ENST00000449591.1_Missense_Mutation_p.C172F|GPR85_ENST00000424100.1_Missense_Mutation_p.C172F	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	172						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTGGAAGGTGCATTGATCTTC	0.502000													23	120					4.7796e-09	5.83749e-09	1	1	0
TRAV3	28690	broad.mit.edu	37	14	22192103	22192103	+	RNA	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:22192103C>A	ENST00000390425.2	+	0	144																											AAGGACCCCCCCAATCCCGCC	0.582000													8	253					1.06961e-07	1.27574e-07	1	1	0
OR52K2	119774	broad.mit.edu	37	11	4471015	4471015	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:4471015C>T	ENST00000325719.4	+	1	491	c.446C>T	c.(445-447)gCt>gTt	p.A149V		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGGCATGGCTGCTGTGGCC	0.572000													26	161					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660517	125660517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:125660517C>A	ENST00000431078.1	+	22	3856	c.3492C>A	c.(3490-3492)tgC>tgA	p.C1164*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1164	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)		TTGCTGGATGCATGTCTTCCG	0.473000													6	46					2.0095e-06	2.31826e-06	1	1	0
ACTN3	89	broad.mit.edu	37	11	66321528	66321528	+	RNA	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:66321528G>A	ENST00000513398.1	+	0	492				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ATTGTTGACGGGAACCTGAAG	0.562000													9	99					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211808	17211808	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:17211808C>A	ENST00000261381.6	-	11	2336	c.2252G>T	c.(2251-2253)aGg>aTg	p.R751M		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	751					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGAATAGCCTCTCCTTGGC	0.562000													12	105					1.08611e-07	1.28537e-07	1	1	0
WDR63	126820	broad.mit.edu	37	1	85573787	85573787	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:85573787A>T	ENST00000294664.6	+	15	1805	c.1625A>T	c.(1624-1626)gAa>gTa	p.E542V	WDR63_ENST00000326813.8_Missense_Mutation_p.E503V|WDR63_ENST00000370596.1_Missense_Mutation_p.E503V	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	542										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAGAAGGAGGAAAGTATTGAA	0.328000													26	98					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940782	22940782	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:22940782A>G	ENST00000397104.3	-	5	1655	c.1656T>C	c.(1654-1656)caT>caC	p.H552H	ZNF99_ENST00000596209.1_Silent_p.H643H					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCTCCAGTATGAATTATCT	0.368000													16	82					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21137268	21137268	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:21137268T>C	ENST00000602326.1	-	34	5140	c.4557A>G	c.(4555-4557)gcA>gcG	p.A1519A	EIF4G3_ENST00000374935.3_Silent_p.A1233A|EIF4G3_ENST00000374937.3_Silent_p.A1519A|EIF4G3_ENST00000264211.8_Silent_p.A1513A|EIF4G3_ENST00000537738.1_Silent_p.A1003A|EIF4G3_ENST00000400422.1_Silent_p.A1513A|EIF4G3_ENST00000536266.1_Silent_p.A1117A	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1513	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATGCTTGTAGTGCATAAAGTG	0.413000													17	197					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169541533	169541533	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:169541533A>G	ENST00000367796.3	-	3	500	c.299T>C	c.(298-300)gTt>gCt	p.V100A	F5_ENST00000367797.3_Missense_Mutation_p.V100A|F5_ENST00000546081.1_5'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	100	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTAAAGTGAACTTTTATGAT	0.348000													22	81					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106973007	106973007	+	Splice_Site	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:106973007G>C	ENST00000369066.3	+	3	3508		c.e3-1			NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCTGATTGCAGACACTTAGAG	0.378000													6	129					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378051	19378051	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:19378051G>A	ENST00000550708.1	+	1	530	c.458G>A	c.(457-459)gGg>gAg	p.G153E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCATGACTGGGCATCTCTGT	0.478000													21	510					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122789197	122789197	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:122789197C>G	ENST00000264499.4	-	2	224	c.41G>C	c.(40-42)gGa>gCa	p.G14A	BBS7_ENST00000506636.1_Missense_Mutation_p.G14A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	14					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGATGTTACTCCCACCTAAAG	0.343000									Bardet-Biedl syndrome				19	117					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293235	130293235	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:130293235G>C	ENST00000358511.6	+	7	3444	c.3413G>C	c.(3412-3414)gGg>gCg	p.G1138A	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1138A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1138	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGGGCATTGGGGATGTGGAT	0.537000													22	109					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:38591931C>G	ENST00000413689.1	-	28	6125	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602000													4	82					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398000													4	147					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39696915	39696915	+	Splice_Site	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:39696915G>T	ENST00000564288.1	+	2	948	c.171_splice	c.e2+1	p.K57_splice	MACF1_ENST00000361689.2_Splice_Site_p.K94_splice|MACF1_ENST00000539005.1_Splice_Site_p.K94_splice|MACF1_ENST00000567887.1_Splice_Site_p.K94_splice|MACF1_ENST00000372915.3_Splice_Site_p.K94_splice|MACF1_ENST00000536367.1_Splice_Site_p.K57_splice|MACF1_ENST00000317713.7_Splice_Site_p.K94_splice|MACF1_ENST00000545844.1_Splice_Site_p.K94_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	94	Actin-binding.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTTAATGAAGGTAGGACCCT	0.468000													17	312					1.5739e-10	1.9858e-10	1	1	0
TNN	63923	broad.mit.edu	37	1	175049519	175049519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:175049519G>T	ENST00000239462.4	+	4	1118	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	335	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTAACGTCAAGAATGAAGTTT	0.527000													26	160					1.1804e-14	1.57157e-14	1	1	0
PDZD8	118987	broad.mit.edu	37	10	119044326	119044326	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:119044326C>T	ENST00000334464.5	-	5	2157	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	640					intracellular signal transduction		metal ion binding	p.D640Y(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTATGGCATCCACATTTTTT	0.448000													19	131					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68009780	68009780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:68009780G>T	ENST00000268793.4	-	10	1803	c.1430C>A	c.(1429-1431)aCc>aAc	p.T477N		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	452					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TGGCTGCTTGGTCACCTCCAG	0.592000													9	31					0.00621372	0.00646791	1	1	0
NEB	4703	broad.mit.edu	37	2	152406213	152406213	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:152406213A>G	ENST00000397345.3	-	130	20188	c.19986T>C	c.(19984-19986)taT>taC	p.Y6662Y	NEB_ENST00000409198.1_Silent_p.Y4961Y|NEB_ENST00000172853.10_Silent_p.Y4961Y|NEB_ENST00000603639.1_Silent_p.Y6662Y|NEB_ENST00000427231.2_Silent_p.Y6662Y|NEB_ENST00000604864.1_Silent_p.Y6662Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4961	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGAAGTCTATATCCAGTGG	0.488000													3	26					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873278	55873278	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:55873278A>T	ENST00000313503.1	+	1	760	c.760A>T	c.(760-762)Act>Tct	p.T254S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTTTATAGCACTCTGATTTT	0.373000										HNSCC(53;0.14)			16	128					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153760164	153760164	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:153760164A>T	ENST00000297107.6	+	6	1048	c.911A>T	c.(910-912)cAg>cTg	p.Q304L	GALNT10_ENST00000425427.2_Missense_Mutation_p.Q304L|GALNT10_ENST00000377661.2_Missense_Mutation_p.Q242L|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	304						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCAGAACTGCAGAAAGCTGAC	0.562000													39	86					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405541	68405541	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:68405541C>T	ENST00000219334.5	-	3	1147	c.544G>A	c.(544-546)Gct>Act	p.A182T	SMPD3_ENST00000568373.1_Missense_Mutation_p.A182T|SMPD3_ENST00000563226.1_Missense_Mutation_p.A182T	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	182					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTGAAGCTAGCGGCGCTGATG	0.637000													9	63					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22398219	22398219	+	Splice_Site	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:22398219G>A	ENST00000263160.3	+	11	1850		c.e11+1			NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6						sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAAGAATAAGGTAAGATGGTC	0.338000													9	151					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101231937	101231937	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:101231937G>A	ENST00000394095.2	-	1	91	c.38C>T	c.(37-39)tCc>tTc	p.S13F	SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.S13F|SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000394094.2_Missense_Mutation_p.S13F	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	13					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTCTCACCGGATGAAGATGG	0.627000													18	334					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510706	5510706	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:5510706C>G	ENST00000322641.5	+	1	792	c.770C>G	c.(769-771)cCt>cGt	p.P257R	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTACATCCCTGCCTTCTTC	0.512000													19	156					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660521	76660521	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:76660521G>T	ENST00000369950.3	-	13	1771	c.1582C>A	c.(1582-1584)Cct>Act	p.P528T	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	528					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GATGGGGCAGGAGTGTCAGAC	0.483000													18	54					7.07596e-05	7.77168e-05	1	1	0
HBG2	3048	broad.mit.edu	37	11	5274619	5274619	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:5274619A>G	ENST00000380259.2	-	8	1572	c.332T>C	c.(331-333)cTg>cCg	p.L111P	HBG2_ENST00000336906.4_Missense_Mutation_p.L111P|HBG2_ENST00000380252.1_Missense_Mutation_p.L101P					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACGGTCACCAGCACATTTCC	0.527000													13	70					0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350381	21350381	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:21350381G>A	ENST00000380210.1	-	1	996	c.506C>T	c.(505-507)gCa>gTa	p.A169V		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	169					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CATGATTTCTGCTCTGACAAC	0.443000													9	725					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216865	78216865	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:78216865C>T	ENST00000171757.2	+	4	1128	c.848C>T	c.(847-849)gCa>gTa	p.A283V	P2RY10_ENST00000544091.1_Missense_Mutation_p.A283V	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	283						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTCCGAATCGCACTGTATTTC	0.413000													74	148					0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21025049	21025049	+	Silent	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:21025049A>T	ENST00000557068.1	-	4	1905	c.180T>A	c.(178-180)ccT>ccA	p.P60P	RNASE9_ENST00000555230.1_Silent_p.P60P|RNASE9_ENST00000554964.1_Silent_p.P60P|RNASE9_ENST00000553706.1_Silent_p.P65P|RNASE9_ENST00000553541.1_Silent_p.P60P|RNASE9_ENST00000429244.2_Silent_p.P60P|RNASE9_ENST00000338904.3_Silent_p.P60P|RNASE9_ENST00000404716.3_Silent_p.P65P|RNASE9_ENST00000556208.1_Silent_p.P65P|RNASE9_ENST00000557209.1_Silent_p.P65P			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	60						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTTCTTTGGTAGGTGGTCTGG	0.358000													45	217					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	267199	267199	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:267199T>A	ENST00000309776.4	+	4	769	c.221T>A	c.(220-222)aTa>aAa	p.I74K	ZMYND11_ENST00000381604.4_Missense_Mutation_p.I74K|ZMYND11_ENST00000509513.2_Missense_Mutation_p.I114K|ZMYND11_ENST00000381602.4_Missense_Mutation_p.I74K|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381591.1_Missense_Mutation_p.I114K|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000397962.3_Missense_Mutation_p.I114K|ZMYND11_ENST00000402736.1_Missense_Mutation_p.I114K|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.I114K|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000381584.1_Missense_Mutation_p.I97K	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	74					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAGGTGTTGATATGTGACCTG	0.418000													35	235					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60888725	60888725	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr20:60888725C>A	ENST00000252999.3	-	63	8704	c.8638G>T	c.(8638-8640)Ggg>Tgg	p.G2880W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2880	Laminin G-like 1.				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)	CTGGGGTACCCCCCGACGTAG	0.677000													14	160					2.31682e-05	2.58806e-05	1	1	0
PLA2G12A	81579	broad.mit.edu	37	4	110639846	110639846	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:110639846C>A	ENST00000243501.5	-	2	545	c.278G>T	c.(277-279)gGt>gTt	p.G93V	PLA2G12A_ENST00000502283.1_Splice_Site_p.G93_splice|PLA2G12A_ENST00000502772.1_5'UTR	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	93					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		TACATGAACACCAAACAGTGG	0.328000													5	71					8.12818e-05	8.88475e-05	1	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88874797	88874797	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:88874797T>C	ENST00000303236.3	-	13	2505	c.2204A>G	c.(2203-2205)gAg>gGg	p.E735G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.E584G|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_Intron	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	735	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GAACTGGCTCTCAGATGAACT	0.458000													94	573					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58571887	58571887	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:58571887C>G	ENST00000317147.5	-	38	5654	c.5322G>C	c.(5320-5322)agG>agC	p.R1774S	CNOT1_ENST00000569240.1_Missense_Mutation_p.R1769S|CNOT1_ENST00000245138.4_Missense_Mutation_p.R625S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1774					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGCAACACTCCTTTCATCCA	0.443000													3	104					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	419116	419116	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:419116C>A	ENST00000399788.2	-	22	3593	c.3231G>T	c.(3229-3231)cgG>cgT	p.R1077R	KDM5A_ENST00000382815.4_Silent_p.R1077R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1077					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1078fs*12(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAATGTCGGTCCGGGGGCTCA	0.353000			T	NUP98	AML								6	110					0.00198382	0.00209352	1	1	0
GLRA1	2741	broad.mit.edu	37	5	151239474	151239474	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:151239474G>T	ENST00000274576.4	-	4	640	c.348C>A	c.(346-348)tcC>tcA	p.S116S	GLRA1_ENST00000545569.1_Silent_p.S33S|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.S116S	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	116					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTCCAGCATGGATGGGTCCA	0.532000													41	196					3.43241e-23	5.05481e-23	1	1	0
PARVG	64098	broad.mit.edu	37	22	44585096	44585096	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr22:44585096T>A	ENST00000422871.1	+	6	774	c.350T>A	c.(349-351)cTg>cAg	p.L117Q	PARVG_ENST00000415224.1_Missense_Mutation_p.L117Q|PARVG_ENST00000444313.2_Missense_Mutation_p.L117Q	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	117	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AACCGGAGTCTGCAGCTGGAG	0.647000													5	105					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675429	22675429	+	RNA	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:22675429G>A	ENST00000390461.2	+	0	12																											ATAGCTAAGGGATGGAGACTG	0.453000													18	75					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99755337	99755337	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:99755337C>G	ENST00000316937.3	-	3	741	c.556G>C	c.(556-558)Gat>Cat	p.D186H	C7orf43_ENST00000457641.1_5'UTR|C7orf43_ENST00000419841.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	186										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGCCTTGATCTCTGACCTCT	0.572000											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	354					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92987735	92987735	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:92987735G>C	ENST00000544910.1	+	29	3012	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	CCDC132_ENST00000305866.5_Missense_Mutation_p.R961T|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.R681T	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	961										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATATAGACAGACCTAAAAGA	0.393000													10	210					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812215	140812215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:140812215G>A	ENST00000252085.3	+	1	2031	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q	PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACGGCGCGAGCCCTGCTG	0.697000													14	252					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275786	114275786	+	Silent	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:114275786T>C	ENST00000357077.4	+	38	6065	c.6012T>C	c.(6010-6012)tcT>tcC	p.S2004S	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.S1971S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1971					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGACCCTTCTAAACATAAAA	0.448000													36	219					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988306	36988306	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:36988306T>C	ENST00000518149.1	-	2	862	c.257A>G	c.(256-258)tAc>tGc	p.Y86C	NKX2-1_ENST00000354822.5_Missense_Mutation_p.Y116C|NKX2-1_ENST00000522719.2_Missense_Mutation_p.Y86C|NKX2-1_ENST00000498187.2_Missense_Mutation_p.Y86C|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	86					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCCGTTGCAGTAGCCCCCCAC	0.706000			A		NSCLC								19	56					0	0	1	0	0
FABP7	2173	broad.mit.edu	37	6	123101495	123101495	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:123101495C>G	ENST00000356535.4	+	2	169	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	FABP7_ENST00000368444.3_Missense_Mutation_p.Q45E			O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	45					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	AATTATCAGTCAAGAAGGAGA	0.473000													13	70					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535088	88535088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:88535088G>T	ENST00000399271.1	+	5	1394	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G425V	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	425					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AACATAGAAGGACCTGGCCAA	0.413000													11	87					2.68362e-12	3.46225e-12	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158449910	158449910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:158449910C>A	ENST00000368152.1	+	1	243	c.243C>A	c.(241-243)ttC>ttA	p.F81L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F81F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAATGTACTTCTTCCTTGGCA	0.413000													77	335					3.3814e-41	5.24977e-41	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36049544	36049544	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr13:36049544C>A	ENST00000379919.4	-	1	1288	c.732G>T	c.(730-732)ggG>ggT	p.G244G	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	244					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTCTGCAGCCCCCCATCTGCA	0.582000													35	166					2.48696e-23	3.67428e-23	1	1	0
RHOC	389	broad.mit.edu	37	1	113245684	113245684	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:113245684G>C	ENST00000285735.2	-	4	1423	c.214C>G	c.(214-216)Ctc>Gtc	p.L72V	RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.S235C|RHOC_ENST00000369632.2_Missense_Mutation_p.L72V|RHOC_ENST00000369633.2_Missense_Mutation_p.L72V|RHOC_ENST00000369636.2_Missense_Mutation_p.L72V|RHOC_ENST00000369637.1_Missense_Mutation_p.L72V|RHOC_ENST00000369638.2_Missense_Mutation_p.L72V|RHOC_ENST00000369642.3_Missense_Mutation_p.L72V|RHOC_ENST00000339083.7_Missense_Mutation_p.L72V|RP11-426L16.10_ENST00000471038.2_5'UTR			P08134	RHOC_HUMAN	ras homolog family member C	72					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGTAGGAGAGAGGCCGCAGT	0.612000													5	150					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878561	5878561	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:5878561C>A	ENST00000537935.1	-	1	403	c.372G>T	c.(370-372)atG>atT	p.M124I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCAAAGGCCATGGCCACCA	0.463000													55	396					6.4308e-24	9.56269e-24	1	1	0
OR4N5	390437	broad.mit.edu	37	14	20611974	20611974	+	Missense_Mutation	SNP	T	T	C	rs11622442		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:20611974T>C	ENST00000333629.1	+	1	80	c.80T>C	c.(79-81)gTc>gCc	p.V27A		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CAACTTCTGGTCTTTGTGCTA	0.433000													69	356					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079480	74079480	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:74079480C>T	ENST00000370359.5	-	1	35	c.36G>A	c.(34-36)cgG>cgA	p.R12R	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	12						cytoplasm		p.R12R(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TCTGTTTGCCCCGCTGGGACT	0.657000													4	275					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455507	84455507	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr13:84455507C>A	ENST00000377084.2	-	1	1021	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	46	LRRNT.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTGTGAAGCCCTTTTTTTCA	0.468000													28	102					8.58068e-18	1.20182e-17	1	1	0
OR11L1	391189	broad.mit.edu	37	1	248004461	248004461	+	Silent	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:248004461A>C	ENST00000355784.2	-	1	793	c.738T>G	c.(736-738)gcT>gcG	p.A246A		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	246					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)			GAGTGACAACAGCCAGGTGGG	0.498000													5	163					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720218	121720218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:121720218G>A	ENST00000273691.3	-	5	688	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.Q195*|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.Q207*|ILDR1_ENST00000393631.1_Intron	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	195	Cys-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAGCAATACTGAGGACAGCAC	0.577000													18	123					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605530	5605530	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrY:5605530C>A	ENST00000215473.6	+	6	3570	c.3570C>A	c.(3568-3570)caC>caA	p.H1190Q				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1190					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTCTGCCACAGCCCTCCAG	0.587000													72	128					4.83814e-26	7.26514e-26	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745760	37745760	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:37745760G>C	ENST00000539465.1	+	16	4324	c.3731G>C	c.(3730-3732)aGc>aCc	p.S1244T	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1244T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1244						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTAGGGACAGCCCTGAGTGG	0.517000													9	184					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111119434	111119434	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr13:111119434G>T	ENST00000360467.5	+	27	2392	c.2086G>T	c.(2086-2088)Ggc>Tgc	p.G696C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	696	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGACCCCCAGGCCCCACAGG	0.592000													30	102					5.60225e-13	7.37307e-13	1	1	0
SLC22A2	6582	broad.mit.edu	37	6	160679560	160679560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:160679560C>A	ENST00000366952.1	-	3	1648	c.167G>T	c.(166-168)gGc>gTc	p.G56V	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.G77V			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	77					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGGTCCTGGGCCCGGCACCGT	0.682000													10	158					0.000673444	0.000722336	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36049545	36049545	+	Missense_Mutation	SNP	C	C	A	rs45556438		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr13:36049545C>A	ENST00000379919.4	-	1	1287	c.731G>T	c.(730-732)gGg>gTg	p.G244V	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	244					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCTGCAGCCCCCCATCTGCAG	0.577000													34	164					3.86903e-22	5.67954e-22	1	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106647175	106647175	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:106647175C>G	ENST00000526355.1	-	6	2294	c.1826G>C	c.(1825-1827)aGa>aCa	p.R609T	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R630T|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R609T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	609	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTGAATCGGTCTTCCATCAGG	0.453000													11	51					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228506	204228506	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:204228506C>T	ENST00000272203.3	-	8	1203	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R316Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	296	Pro-rich.							p.R296Q(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAAACTCCGCCGGTGTCCCCC	0.637000													15	279					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756672	248756672	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:248756672G>T	ENST00000330500.2	-	1	428	c.398C>A	c.(397-399)tCt>tAt	p.S133Y		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCACAGAGTAACGGAG	0.557000													38	226					6.2361e-21	9.0671e-21	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12408888	12408888	+	Silent	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:12408888A>T	ENST00000358136.3	+	45	9208	c.9078A>T	c.(9076-9078)tcA>tcT	p.S3026S	VPS13D_ENST00000356315.4_Silent_p.S3001S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3025					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTTCTCTTCACTCCCACCAG	0.413000													12	102					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032562	79032562	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:79032562A>G	ENST00000446378.2	+	2	8005	c.7974A>G	c.(7972-7974)gtA>gtG	p.V2658V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2658						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATCTAGTATTAGAAAAGT	0.408000													4	77					0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56917659	56917659	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:56917659C>T	ENST00000370733.4	+	4	569	c.362C>T	c.(361-363)tCa>tTa	p.S121L	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Missense_Mutation_p.S94L	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	121							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAAAAGCCATCACTTTCATCA	0.323000													5	82					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16694542	16694542	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:16694542C>T	ENST00000513610.1	-	27	4192	c.3738G>A	c.(3736-3738)ctG>ctA	p.L1246L	MYO10_ENST00000274203.9_Silent_p.L603L|MYO10_ENST00000427430.2_Silent_p.L603L|MYO10_ENST00000515803.1_Silent_p.L585L|MYO10_ENST00000505695.1_Silent_p.L585L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1246	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAAAGTACATCAGCTTGGACT	0.567000													67	424					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970820	151970820	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:151970820G>T	ENST00000355193.2	-	7	1200	c.982C>A	c.(982-984)Cca>Aca	p.P328T	KMT2C_ENST00000262189.6_Missense_Mutation_p.P328T					lysine (K)-specific methyltransferase 2C																		ATGTGTTCTGGACAAAGCAGG	0.378000													19	601					1.77063e-15	2.42074e-15	1	1	0
UPK1A	11045	broad.mit.edu	37	19	36159435	36159435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:36159435C>A	ENST00000222275.2	+	2	164	c.164C>A	c.(163-165)tCa>tAa	p.S55*	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Nonsense_Mutation_p.S55*	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	55					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGGAGTCTCAGGCAAGGAT	0.577000													33	110					2.05212e-20	2.96489e-20	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138641992	138641992	+	Silent	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:138641992C>G	ENST00000298480.5	+	3	377	c.303C>G	c.(301-303)ctC>ctG	p.L101L	KCNT1_ENST00000371757.2_Silent_p.L101L|KCNT1_ENST00000490355.2_Silent_p.L82L|KCNT1_ENST00000263604.3_Silent_p.L82L|KCNT1_ENST00000491806.2_Silent_p.L68L|KCNT1_ENST00000488444.2_Silent_p.L82L|KCNT1_ENST00000487664.1_Silent_p.L53L|KCNT1_ENST00000486577.2_Silent_p.L62L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	101						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGGAGCGGCTCAAGCTGTTCT	0.607000													3	62					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105356006	105356006	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:105356006C>T	ENST00000453495.1	+	13	4125	c.3897C>T	c.(3895-3897)gcC>gcT	p.A1299A	CEP170B_ENST00000556508.1_Silent_p.A1228A|CEP170B_ENST00000418279.1_Silent_p.A1193A|CEP170B_ENST00000414716.3_Silent_p.A1263A					centrosomal protein 170B																		GTTcccgggcccccggccccc	0.672000													13	96					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735834	172735834	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:172735834C>A	ENST00000506823.1	+	2	760	c.103C>A	c.(103-105)Cac>Aac	p.H35N	GALNTL6_ENST00000511251.1_Missense_Mutation_p.H35N	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	35						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CAAGGATAAGCACCTGGTGAA	0.517000													13	81					9.31168e-06	1.05302e-05	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													7	121					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146548	42146548	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:42146548C>T	ENST00000394237.1	+	5	1336	c.360C>T	c.(358-360)cgC>cgT	p.R120R	GUCA1A_ENST00000541991.1_Silent_p.R120R|GUCA1A_ENST00000053469.4_Silent_p.R120R|GUCA1A_ENST00000372958.1_Silent_p.R120R			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGCCATTCGCGCCATTAACC	0.592000													8	629					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150748966	150748966	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:150748966C>A	ENST00000357922.4	+	7	1878	c.1284C>A	c.(1282-1284)gcC>gcA	p.A428A	ASIC3_ENST00000297512.8_Silent_p.A428A|ASIC3_ENST00000349064.5_Silent_p.A428A	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	428					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGAAGAAGGCCTATGAGATGT	0.587000													5	188					0.217242	0.218675	1	1	0
TCEAL6	158931	broad.mit.edu	37	X	101395956	101395956	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:101395956C>A	ENST00000372774.3	-	3	597	c.348G>T	c.(346-348)agG>agT	p.R116S	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R116S	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CGTCCGTCCCCCTGTCTGTTT	0.582000													4	155					0.00909568	0.0093614	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22806076	22806076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr18:22806076C>A	ENST00000361524.3	-	4	1954	c.1806G>T	c.(1804-1806)agG>agT	p.R602S	ZNF521_ENST00000538137.2_Missense_Mutation_p.R602S|ZNF521_ENST00000584787.1_Missense_Mutation_p.R382S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	602					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCTTAAGGCCCTGGATTTCT	0.443000			T	PAX5	ALL								24	101					4.54149e-19	6.43963e-19	1	1	0
SPRR3	6707	broad.mit.edu	37	1	152975965	152975965	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:152975965G>A	ENST00000331860.3	+	3	619	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	SPRR3_ENST00000295367.4_Missense_Mutation_p.V157I|SPRR3_ENST00000542696.1_Missense_Mutation_p.V149I	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	157					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTTCAACGGTCACTCCAGG	0.532000													23	76					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146121368	146121368	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:146121368C>G	ENST00000237281.4	-	3	2278	c.2112G>C	c.(2110-2112)ttG>ttC	p.L704F		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	704							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TGCATTTCTTCAAGTGGTCTG	0.403000													18	215					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78882694	78882694	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:78882694G>T	ENST00000306801.3	+	21	2847	c.2485G>T	c.(2485-2487)Gtg>Ttg	p.V829L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.V671L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	829					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGTCTCGGACGTGGCCATGAA	0.557000													141	354					2.08805e-72	3.29768e-72	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143326437	143326437	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:143326437C>T	ENST00000513000.1	-	7	610	c.177G>A	c.(175-177)ctG>ctA	p.L59L	INPP4B_ENST00000506217.1_Silent_p.L59L|INPP4B_ENST00000262992.4_Silent_p.L59L|INPP4B_ENST00000508116.1_Silent_p.L59L|INPP4B_ENST00000308502.4_Silent_p.L59L|INPP4B_ENST00000509777.1_Silent_p.L59L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	59	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CCAGTGTATTCAGTTTACGAT	0.493000													6	84					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148464720	148464720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:148464720G>T	ENST00000325222.4	+	9	1241	c.962G>T	c.(961-963)cGc>cTc	p.R321L	CUL1_ENST00000602748.1_Missense_Mutation_p.R321L|CUL1_ENST00000409469.1_Missense_Mutation_p.R321L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	321					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.R321H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GATTTGGGACGCATGTATAAT	0.348000													19	117					4.35082e-09	5.37109e-09	1	1	0
CHD3	1107	broad.mit.edu	37	17	7809241	7809241	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:7809241C>G	ENST00000380358.4	+	28	4470	c.4469C>G	c.(4468-4470)cCa>cGa	p.P1490R	CHD3_ENST00000358181.4_Missense_Mutation_p.P1431R|CHD3_ENST00000330494.7_Missense_Mutation_p.P1431R	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1431					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGGATGCCACCACAGGATGCC	0.592000													4	157					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340149	55340149	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:55340149G>C	ENST00000314634.3	+	1	546	c.546G>C	c.(544-546)ttG>ttC	p.L182F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGCAGCCCTTGTTGAAACAAG	0.438000													28	166					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630359	32630359	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:32630359C>A	ENST00000242310.4	-	1	5308	c.5219G>T	c.(5218-5220)gGa>gTa	p.G1740V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1740					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCACCATCTCCCCCTTCTGG	0.498000													62	324					3.13765e-25	4.68093e-25	1	1	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970970	45970970	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr21:45970970A>G	ENST00000391621.1	-	1	418	c.372T>C	c.(370-372)tcT>tcC	p.S124S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	124	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GCTGGCAGCTAGACTGCTGGC	0.647000													70	300					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239475	151239475	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:151239475G>A	ENST00000274576.4	-	4	639	c.347C>T	c.(346-348)tCc>tTc	p.S116F	GLRA1_ENST00000545569.1_Missense_Mutation_p.S33F|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.S116F	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	116					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.S116F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCCAGCATGGATGGGTCCAG	0.532000													41	200					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913703	158913703	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:158913703T>A	ENST00000368140.1	+	6	1371	c.1126T>A	c.(1126-1128)Tgc>Agc	p.C376S	PYHIN1_ENST00000392254.2_Missense_Mutation_p.C376S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.C367S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.C367S|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	376	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCGACTCTTCTGCTTTCGACT	0.358000													30	109					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253651	32253651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr21:32253651C>A	ENST00000332378.4	-	1	223	c.193G>T	c.(193-195)Gct>Tct	p.A65S		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	65						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGCTGGCAAGCAGTGGGCTCA	0.562000													22	88					1.10923e-09	1.38805e-09	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176661294	176661294	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:176661294C>A	ENST00000367662.3	+	6	3628	c.2464C>A	c.(2464-2466)Caa>Aaa	p.Q822K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	822					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTCCTAACCAAGTGGCCCG	0.488000											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	256					0.000157383	0.000171215	1	1	0
CTSD	1509	broad.mit.edu	37	11	1780824	1780824	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:1780824A>G	ENST00000236671.2	-	3	406	c.274T>C	c.(274-276)Ttc>Ctc	p.F92L		NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	92					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGACTGTGAAGCACTGGGGG	0.652000													5	114					0	0	1	0	0
PDLIM7	9260	broad.mit.edu	37	5	176918102	176918102	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:176918102C>T	ENST00000355841.2	-	6	510	c.444G>A	c.(442-444)ctG>ctA	p.L148L	PDLIM7_ENST00000355572.2_Silent_p.L148L|PDLIM7_ENST00000356618.4_Silent_p.L148L|PDLIM7_ENST00000359895.2_Silent_p.L114L|PDLIM7_ENST00000393551.1_Silent_p.L148L	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	148					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCTCCATCAGCCGCTGCT	0.682000													5	43					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150695715	150695715	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:150695715C>A	ENST00000297494.3	+	7	1120	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	NOS3_ENST00000467517.1_Silent_p.R255R|NOS3_ENST00000484524.1_Silent_p.R255R|NOS3_ENST00000461406.1_Silent_p.R49R	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	255	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGCGGGCTACCGGCAGCAGGA	0.667000													3	31					1	1	1	1	0
INO80	54617	broad.mit.edu	37	15	41364130	41364130	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:41364130T>A	ENST00000361937.3	-	12	1946	c.1522A>T	c.(1522-1524)Att>Ttt	p.I508F	INO80_ENST00000401393.3_Missense_Mutation_p.I508F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	508	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGCTGTGGAATATCCTCACCA	0.463000													11	249					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210267767	210267767	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:210267767C>A	ENST00000537238.1	+	6	820	c.429C>A	c.(427-429)ccC>ccA	p.P143P	SYT14_ENST00000534859.1_Silent_p.P181P|SYT14_ENST00000367015.1_Silent_p.P143P|SYT14_ENST00000399639.2_Silent_p.P181P|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Silent_p.P226P|SYT14_ENST00000472886.1_Silent_p.P181P|SYT14_ENST00000367019.1_Silent_p.P181P	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	181						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CATGTACACCCTCAGAAATTG	0.468000													23	91					2.21704e-12	2.86837e-12	1	1	0
FREM1	158326	broad.mit.edu	37	9	14808014	14808014	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:14808014A>G	ENST00000380881.4	-	18	3830	c.3015T>C	c.(3013-3015)ctT>ctC	p.L1005L	FREM1_ENST00000422223.2_Silent_p.L1004L|FREM1_ENST00000380880.3_Silent_p.L1004L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1004					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGACGCATGAAGTGGAACAG	0.458000													68	303					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963260	96963260	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:96963260C>A	ENST00000323853.5	-	11	1295	c.1218G>T	c.(1216-1218)cgG>cgT	p.R406R	SNRNP200_ENST00000349783.5_Silent_p.R406R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	406						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCAGAACCTGCCGTGGAGCCA	0.502000													7	39					0.00307968	0.00323508	1	1	0
SKAP2	8935	broad.mit.edu	37	7	26709737	26709737	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:26709737C>T	ENST00000345317.2	-	12	1375	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	SKAP2_ENST00000539623.1_Missense_Mutation_p.M182I	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	354	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CATACATCTCCATTATGTAGG	0.373000													21	105					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132125	42132125	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:42132125C>T	ENST00000221954.2	-	2	384	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	CEACAM4_ENST00000600925.1_Missense_Mutation_p.G92R	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	92	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TATGCGGCCCCTGGGATATTT	0.488000													11	284					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150073716	150073716	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:150073716T>A	ENST00000199814.4	-	8	954	c.833A>T	c.(832-834)cAg>cTg	p.Q278L	RBM22_ENST00000447771.2_Missense_Mutation_p.Q229L|RBM22_ENST00000540000.1_Missense_Mutation_p.Q229L	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	278	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTGCAGCCTGCCGTGTGGC	0.448000													30	156					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6335430	6335430	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:6335430G>A	ENST00000335585.5	-	7	842	c.819C>T	c.(817-819)aaC>aaT	p.N273N	PPP2R2C_ENST00000506140.1_Silent_p.N266N|PPP2R2C_ENST00000515571.1_Silent_p.N256N|PPP2R2C_ENST00000382599.4_Silent_p.N273N|PPP2R2C_ENST00000507294.1_Silent_p.N266N	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	273					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGAATGAGCGGTTACTGGGGT	0.577000											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	158					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19725370	19725370	+	Splice_Site	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr21:19725370C>G	ENST00000284885.3	-	10	1055		c.e10-1			NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15						proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTCTCATAATCTGTGAATGAA	0.299000													6	89					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154855958	154855958	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:154855958C>A	ENST00000460393.1	+	9	908	c.788C>A	c.(787-789)cCc>cAc	p.P263H	MME_ENST00000360490.2_Missense_Mutation_p.P263H|MME_ENST00000492661.1_Missense_Mutation_p.P263H|MME_ENST00000493237.1_Missense_Mutation_p.P263H|MME_ENST00000462745.1_Missense_Mutation_p.P263H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	263					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAAGATTGCCCATCGATGAA	0.348000													71	195					3.48418e-26	5.2492e-26	1	1	0
NRG1	3084	broad.mit.edu	37	8	31498053	31498053	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:31498053C>A	ENST00000520407.1	+	1	783	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CACCGTGCGCCTGGGGACCTG	0.682000													4	42					0.000602214	0.000647451	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113348966	113348966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:113348966G>T	ENST00000297405.5	-	44	7178	c.6934C>A	c.(6934-6936)Ctt>Att	p.L2312I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2208I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2272I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2242I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2312	CUB 13.					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						ACTCTTACAAGCCAAAAACAA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	181					1.1804e-14	1.57157e-14	1	1	0
TEX15	56154	broad.mit.edu	37	8	30703341	30703341	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:30703341A>G	ENST00000256246.2	-	1	3267	c.3193T>C	c.(3193-3195)Tca>Cca	p.S1065P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1065										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTCTTTTTGACGAAAAATGC	0.308000													4	94					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85218821	85218821	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:85218821T>C	ENST00000357749.2	-	5	580	c.551A>G	c.(550-552)gAt>gGt	p.D184G	CHM_ENST00000537751.1_Missense_Mutation_p.D36G|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	184					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ACAAGTTTTATCATCACAATG	0.408000													5	120					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49083998	49083998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:49083998G>A	ENST00000395443.2	-	5	2003	c.1531C>T	c.(1531-1533)Cga>Tga	p.R511*	QRICH1_ENST00000424300.1_Nonsense_Mutation_p.R511*|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Nonsense_Mutation_p.R511*	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	511										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCTGGAATCGCAGCAGTTGG	0.517000													8	96					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210267766	210267766	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:210267766C>A	ENST00000537238.1	+	6	819	c.428C>A	c.(427-429)cCc>cAc	p.P143H	SYT14_ENST00000534859.1_Missense_Mutation_p.P181H|SYT14_ENST00000367015.1_Missense_Mutation_p.P143H|SYT14_ENST00000399639.2_Missense_Mutation_p.P181H|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.P226H|SYT14_ENST00000472886.1_Missense_Mutation_p.P181H|SYT14_ENST00000367019.1_Missense_Mutation_p.P181H	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	181						integral to membrane		p.P181H(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCATGTACACCCTCAGAAATT	0.473000													23	92					2.21704e-12	2.86837e-12	1	1	0
NEGR1	257194	broad.mit.edu	37	1	72400830	72400830	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:72400830C>A	ENST00000357731.4	-	2	580	c.341G>T	c.(340-342)gGc>gTc	p.G114V	NEGR1_ENST00000434200.1_Missense_Mutation_p.G112V|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	114	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CGTGTATGGGCCATCATCTGT	0.418000													14	91					0.00498961	0.00521744	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49070320	49070320	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:49070320C>A	ENST00000376265.2	-	31	3845	c.3784G>T	c.(3784-3786)Gtg>Ttg	p.V1262L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1251L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1197L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1262					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)	CTGCCCACCACAATAAGAGCG	0.502000													13	28					9.05144e-12	1.16122e-11	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166172174	166172174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:166172174C>A	ENST00000357398.3	+	11	1867	c.1577C>A	c.(1576-1578)tCg>tAg	p.S526*	SCN2A_ENST00000375437.2_Nonsense_Mutation_p.S526*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.S526*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.S526*			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	526					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCCGAAAATCGGAATCTGAA	0.373000													11	120					0.00136819	0.00145054	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37547296	37547296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr20:37547296G>T	ENST00000299824.1	+	11	1880	c.1691G>T	c.(1690-1692)tGc>tTc	p.C564F	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.C522F	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	564					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CATGGCTGTTGCCGTATCTCC	0.592000													5	68					0.00116845	0.00124453	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23292197	23292197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:23292197G>T	ENST00000298032.5	+	13	1669	c.1585G>T	c.(1585-1587)Gtt>Ttt	p.V529F	ARMC3_ENST00000376528.4_Missense_Mutation_p.V266F|ARMC3_ENST00000409983.3_Missense_Mutation_p.V529F|ARMC3_ENST00000409049.3_Missense_Mutation_p.V529F	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	529							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTTGAAGAAGTTAACGTATC	0.358000													16	95					5.01169e-05	5.55776e-05	1	1	0
SCD5	79966	broad.mit.edu	37	4	83602034	83602034	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:83602034C>T	ENST00000319540.4	-	3	714	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	SCD5_ENST00000273908.4_Missense_Mutation_p.R132Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	132					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTGGTGGGCTCGGTGGTCCCT	0.577000													8	206					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89903278	89903278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:89903278C>A	ENST00000534061.1	+	13	1614	c.1384C>A	c.(1384-1386)Caa>Aaa	p.Q462K	NAALAD2_ENST00000321955.4_Missense_Mutation_p.Q429K|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	462	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCTTCTTTACCAATTAGTGTA	0.313000													43	190					2.13384e-23	3.16278e-23	1	1	0
ZFP36L2	678	broad.mit.edu	37	2	43452607	43452607	+	Silent	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:43452607C>T	ENST00000282388.3	-	2	629	c.336G>A	c.(334-336)ctG>ctA	p.L112L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	112					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTTGTTGAGCAGGGCTGTGC	0.706000													5	35					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709093	35709093	+	Silent	SNP	A	A	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:35709093A>T	ENST00000440995.2	+	19	2694	c.2694A>T	c.(2692-2694)gcA>gcT	p.A898A	SPEF2_ENST00000509059.1_Silent_p.A898A|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.A903A			Q9C093	SPEF2_HUMAN	sperm flagellar 2	903					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAGCAGCAGCTTCCCTGG	0.408000													21	162					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65154590	65154590	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:65154590G>T	ENST00000317568.5	+	2	246	c.83G>T	c.(82-84)cGa>cTa	p.R28L	FRMD8_ENST00000355991.5_Missense_Mutation_p.R28L|FRMD8_ENST00000531296.1_Missense_Mutation_p.R28L|FRMD8_ENST00000416776.2_Missense_Mutation_p.R28L	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	28						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GTGGGAGCCCGAGGTGGGTCC	0.592000													32	121					5.91797e-21	8.63194e-21	1	1	0
ZNF677	342926	broad.mit.edu	37	19	53741799	53741799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:53741799C>A	ENST00000333952.4	-	5	346	c.181G>T	c.(181-183)Gga>Tga	p.G61*	ZNF677_ENST00000598513.1_Nonsense_Mutation_p.G61*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CTTGTAAATCCAACAGAAATA	0.294000													13	74					2.32078e-09	2.87276e-09	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20588474	20588474	+	RNA	SNP	C	C	T	rs111409649	by1000genomes	TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:20588474C>T	ENST00000428453.1	-	0	4276																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGCAGTGTCCCCAGGACAC	0.483000													5	42					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409096	17409096	+	Silent	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:17409096G>C	ENST00000339994.4	-	1	1110	c.543C>G	c.(541-543)ctC>ctG	p.L181L	KCNJ11_ENST00000528731.1_Silent_p.L94L	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	94						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGCTGAAGATGAGGGTCTCAG	0.592000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	41					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74542769	74542769	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:74542769C>T	ENST00000422840.2	-	3	525	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	GLG1_ENST00000447066.2_Missense_Mutation_p.A165T|GLG1_ENST00000205061.5_Missense_Mutation_p.A176T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	176						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACCTCTCTGGCCACAGATTCA	0.358000													10	89					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796994	210796994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:210796994G>A	ENST00000367010.1	+	11	1597	c.1370G>A	c.(1369-1371)tGg>tAg	p.W457*	HHAT_ENST00000545781.1_Nonsense_Mutation_p.W394*|HHAT_ENST00000545154.1_Nonsense_Mutation_p.W458*|HHAT_ENST00000541565.1_Nonsense_Mutation_p.W320*|HHAT_ENST00000537898.1_Nonsense_Mutation_p.W392*|HHAT_ENST00000261458.3_Nonsense_Mutation_p.W457*|HHAT_ENST00000391905.3_Nonsense_Mutation_p.W457*|HHAT_ENST00000367009.1_Nonsense_Mutation_p.W147*|HHAT_ENST00000413764.2_Nonsense_Mutation_p.W457*|HHAT_ENST00000308852.6_Nonsense_Mutation_p.W412*	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	457					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		AAAACCTACTGGAATAGGATC	0.483000													43	612					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41723341	41723341	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr22:41723341C>G	ENST00000352645.4	+	5	674	c.417C>G	c.(415-417)agC>agG	p.S139R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S139R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	139					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACGAGTGCAGCAGCCGGTGTT	0.657000													8	255					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594591	11594591	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:11594591A>C	ENST00000294484.6	+	18	3667	c.3529A>C	c.(3529-3531)Atc>Ctc	p.I1177L	PTCHD2_ENST00000304391.6_Missense_Mutation_p.N63T|PTCHD2_ENST00000389575.3_Missense_Mutation_p.I1177L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1177					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATTCATGGAAATCGTAGGCAA	0.657000													12	53					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175465	51175465	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:51175465T>G	ENST00000440970.1	-	2	808	c.377A>C	c.(376-378)aAg>aCg	p.K126T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.K223T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	223					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GACGGCCAGCTTGCCCCCAGA	0.582000													14	167					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672999	186672999	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:186672999G>T	ENST00000343098.5	+	17	19233	c.19233G>T	c.(19231-19233)gtG>gtT	p.V6411V	FSIP2_ENST00000424728.1_Silent_p.V6322V	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGGAAAAAGTGATCAAAATTA	0.338000													7	79					5.18039e-06	5.93155e-06	1	1	0
ANKRD35	148741	broad.mit.edu	37	1	145562861	145562861	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:145562861G>T	ENST00000355594.4	+	10	2636	c.2549G>T	c.(2548-2550)gGc>gTc	p.G850V		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	850										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGCTTGGGGCCAGGAGCTA	0.667000													10	39					3.86212e-05	4.30377e-05	1	1	0
CNBD1	168975	broad.mit.edu	37	8	88365914	88365914	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:88365914C>A	ENST00000518476.1	+	10	1254	c.1203C>A	c.(1201-1203)tcC>tcA	p.S401S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	401										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGAAGGAGTCCTTTGGTGAGA	0.333000													20	74					2.89027e-11	3.66688e-11	1	1	0
MRS2	57380	broad.mit.edu	37	6	24423250	24423250	+	Missense_Mutation	SNP	G	G	A	rs150697747	by1000genomes	TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:24423250G>A	ENST00000378386.3	+	10	1286	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.R398Q|MRS2_ENST00000543597.1_Missense_Mutation_p.R107Q|MRS2_ENST00000443868.2_Missense_Mutation_p.R401Q|MRS2_ENST00000535061.1_Missense_Mutation_p.R348Q	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	398					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTCCTTGGACGACAGCTAGAA	0.478000													4	212					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	85					0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836721	142836721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:142836721C>A	ENST00000291009.3	+	4	467	c.427C>A	c.(427-429)Cta>Ata	p.L143I		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	143						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)		TATTGAAATCCTAAAGGTAGA	0.413000													60	130					4.17052e-40	6.45303e-40	1	1	0
OR51S1	119692	broad.mit.edu	37	11	4870051	4870051	+	Silent	SNP	G	G	T	rs139421041		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:4870051G>T	ENST00000322101.2	-	1	463	c.388C>A	c.(388-390)Cgg>Agg	p.R130R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAGTGCCCGATCAATGGAC	0.522000													44	216					5.34276e-22	7.81783e-22	1	1	0
PAN3	255967	broad.mit.edu	37	13	28855517	28855517	+	Splice_Site	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr13:28855517G>T	ENST00000399613.1	+	16	1847		c.e16+1		PAN3_ENST00000380958.3_Splice_Site|PAN3_ENST00000282391.5_Splice_Site			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGAGGCCGGAGTAAGGATTTA	0.303000													8	43					0.000274275	0.000296969	1	1	0
LRRN4CL	221091	broad.mit.edu	37	11	62455614	62455614	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:62455614C>T	ENST00000317449.4	-	2	844	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	123	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)	2						TGCGCAGCCTCGCTGCCGTCC	0.662000													5	30					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531980	50531980	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:50531980C>A	ENST00000374144.3	+	3	1678	c.1390C>A	c.(1390-1392)Cca>Aca	p.P464T	C10orf71_ENST00000323868.4_Missense_Mutation_p.P464T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	464										endometrium(1)	1						AGACAGCCAGCCAGCAGAGCG	0.542000													10	61					6.40141e-05	7.04771e-05	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63246527	63246527	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:63246527C>A	ENST00000322893.7	-	10	2206	c.1938G>T	c.(1936-1938)ttG>ttT	p.L646F	KCNH5_ENST00000394968.1_Missense_Mutation_p.L588F|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	646					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGACTTTGAGCAAGGCTTCCC	0.493000													26	140					4.7796e-09	5.83749e-09	1	1	0
SLC43A3	29015	broad.mit.edu	37	11	57184122	57184122	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:57184122G>A	ENST00000395123.2	-	9	997	c.693C>T	c.(691-693)acC>acT	p.T231T	SLC43A3_ENST00000395124.1_Silent_p.T231T|SLC43A3_ENST00000352187.1_Silent_p.T231T|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Silent_p.T231T|SLC43A3_ENST00000533524.1_Silent_p.T244T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	231					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTTCCTTTGTGGTGCCATTCC	0.537000													11	64					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639651	149639651	+	Silent	SNP	A	A	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602000													4	125					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70196794	70196794	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:70196794C>G	ENST00000399180.2	-	10	1877	c.1878G>C	c.(1876-1878)atG>atC	p.M626I	DNA2_ENST00000399179.2_Missense_Mutation_p.M540I|DNA2_ENST00000358410.3_Missense_Mutation_p.M540I			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	540					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTACTGTTGTCATGTTAATCT	0.328000													5	312					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106173675	106173675	+	RNA	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr14:106173675G>A	ENST00000390547.2	-	0	891																											GCCACGCGCAGTATGCTGGTC	0.662000													11	199					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236719206	236719206	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:236719206C>G	ENST00000366582.3	-	39	5662	c.5548G>C	c.(5548-5550)Gag>Cag	p.E1850Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1769Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1850					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCAATATGCTCTTGCAAGATG	0.473000													17	280					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71571628	71571628	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:71571628G>T	ENST00000230053.6	-	3	1398	c.790C>A	c.(790-792)Cgt>Agt	p.R264S	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	264					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GATCCACGACGCTTAAATACA	0.368000													30	107					9.39395e-14	1.24348e-13	1	1	0
RAB23	51715	broad.mit.edu	37	6	57055324	57055324	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:57055324G>A	ENST00000317483.3	-	7	1268	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	RAB23_ENST00000468148.1_Missense_Mutation_p.L217F	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	217					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTGGGTCTAAGATTGATGACA	0.393000													22	160					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													6	21					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144523112	144523112	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:144523112C>G	ENST00000262577.5	-	10	2517	c.2486G>C	c.(2485-2487)gGg>gCg	p.G829A		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	829					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCACCTGGGCCCGTGGCTGGC	0.721000													24	22					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805926	169805926	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:169805926C>A	ENST00000274629.4	-	4	800	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	120					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		ACCTTCTCCACGTCGGCCCGG	0.577000													12	108					9.31168e-06	1.05302e-05	1	1	0
NMUR1	10316	broad.mit.edu	37	2	232393102	232393102	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:232393102C>A	ENST00000305141.4	-	2	763	c.630G>T	c.(628-630)cgG>cgT	p.R210R		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCACTGGGCCCCGGCAGGGCA	0.662000													8	50					0.00448238	0.00469778	1	1	0
XKR6	286046	broad.mit.edu	37	8	10782281	10782281	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:10782281C>A	ENST00000416569.2	-	2	850	c.824G>T	c.(823-825)cGc>cTc	p.R275L	XKR6_ENST00000304437.2_5'UTR	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	275						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCAGTAGAAGCGTCGCTGGTG	0.577000													25	115					1.08971e-26	1.64716e-26	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31617525	31617525	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:31617525C>T	ENST00000319386.3	+	8	1640	c.647C>T	c.(646-648)tCa>tTa	p.S216L	CCDC129_ENST00000407970.3_Missense_Mutation_p.S216L|CCDC129_ENST00000409210.1_Missense_Mutation_p.S124L|CCDC129_ENST00000451887.2_Missense_Mutation_p.S242L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	216										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATGCCTTCTCATCTCTGCTG	0.483000													6	44					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158589949	158589949	+	Silent	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr5:158589949G>A	ENST00000424310.2	-	9	1619	c.1260C>T	c.(1258-1260)acC>acT	p.T420T	RNF145_ENST00000521606.2_Silent_p.T437T|RNF145_ENST00000274542.2_Silent_p.T448T|RNF145_ENST00000520638.1_Silent_p.T434T|RNF145_ENST00000518802.1_Silent_p.T450T|RNF145_ENST00000519865.1_Silent_p.T420T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	420						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGAAGAGAGGTAAGAATGC	0.308000													19	94					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388683	56388683	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:56388683C>A	ENST00000423270.1	-	9	1242	c.1243G>T	c.(1243-1245)Gtt>Ttt	p.V415F	RFX7_ENST00000422057.1_Missense_Mutation_p.V318F|RFX7_ENST00000559447.2_Missense_Mutation_p.V318F|RFX7_ENST00000317318.6_Missense_Mutation_p.V415F	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	318					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGGCTGGAACGTTCTGGGGA	0.542000													6	28					0.0215528	0.0219359	1	1	0
CPD	1362	broad.mit.edu	37	17	28770917	28770917	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr17:28770917C>A	ENST00000225719.4	+	11	2547	c.2471C>A	c.(2470-2472)aCt>aAt	p.T824N	CPD_ENST00000543464.2_Missense_Mutation_p.T577N	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	824	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CACCCAGTGACTACTTACAAA	0.443000													10	271					0.00136819	0.00145054	1	1	0
FANCF	2188	broad.mit.edu	37	11	22647060	22647060	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:22647060C>T	ENST00000428556.2	+	1	201	c.4C>T	c.(4-6)Ctc>Ttc	p.L2F	FANCF_ENST00000327470.3_Silent_p.E99E																							GGGCCCGGTTCTCCAGCAGGC	0.662000											OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	315					0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66621857	66621857	+	Silent	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:66621857C>A	ENST00000268595.2	+	4	733	c.582C>A	c.(580-582)atC>atA	p.I194I	CMTM2_ENST00000379486.2_Silent_p.I141I	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	194	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTGCTTTTATCGATGTGTGTC	0.468000													23	240					1.04121e-07	1.24511e-07	1	1	0
HSPA4L	22824	broad.mit.edu	37	4	128719866	128719866	+	Splice_Site	SNP	T	T	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:128719866T>G	ENST00000296464.3	+	4	840		c.e4+2		HSPA4L_ENST00000439123.2_Splice_Site|HSPA4L_ENST00000508776.1_Splice_Site|HSPA4L_ENST00000505726.1_Splice_Site	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGATTTCAGTAAGTTTTACT	0.343000													16	88					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748493	102748493	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr10:102748493G>C	ENST00000370228.1	+	1	711	c.526G>C	c.(526-528)Gct>Cct	p.A176P	C10orf2_ENST00000311916.2_Missense_Mutation_p.A176P|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	176					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGTTCAGCTGGCTGATACAAT	0.527000													31	250					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151073733	151073733	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:151073733C>A	ENST00000474524.1	+	17	2500	c.2462C>A	c.(2461-2463)tCc>tAc	p.S821Y	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.S681Y|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	821					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGGAACATCCTATCATCTC	0.378000													37	123					9.62906e-15	1.28951e-14	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118222136	118222136	+	Silent	SNP	G	G	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:118222136G>T	ENST00000402510.2	-	11	3056	c.3057C>A	c.(3055-3057)ccC>ccA	p.P1019P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1019										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAGAATATCTGGGGAGTAGTG	0.473000													83	130					1.00421e-58	1.58051e-58	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681303	55681303	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:55681303C>G	ENST00000344514.1	-	1	755	c.756G>C	c.(754-756)caG>caC	p.Q252H		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	252					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						GCAGAGTTCCCTGGAAAATTG	0.428000													5	82					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89209495	89209495	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr8:89209495G>A	ENST00000286614.6	-	2	454	c.173C>T	c.(172-174)cCc>cTc	p.P58L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	58					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P58L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGACATTCTGGGGTCAGTCGG	0.433000													11	122					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073475	8073477	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:8073475_8073477delTAA	ENST00000377482.5	-	4	1405_1407	c.1182_1184delTTA	c.(1180-1185)tac>ta	p.YY394del	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	394					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGGTAGTAGGTAATAATGTGTTG	0.429													9	308	---	---	---	---					
DEPDC1	55635	broad.mit.edu	37	1	68947798	68947799	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:68947798_68947799delAG	ENST00000456315.2	-	8	1806_1807	c.1692_1693delCT	c.(1690-1695)ctgcfs	p.LC564fs	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	564					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GTACTTTTGCAGAGTCTTTTAT	0.381													8	330	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gafs	p.E602fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577													8	203	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147087681	147087682	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:147087681_147087682delAG	ENST00000234739.3	+	7	1379_1380	c.639_640delAG	c.(637-642)acagfs	p.TE213fs	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	213					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ACAACAAGACAGAGAGAAGCAC	0.426			T	"""IGH@, IGL@"""	B-ALL								10	123	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158648266	158648267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:158648266_158648267insA	ENST00000368148.3	-	6	916_917	c.736_737insT	c.(736-738)ggafs	p.G246fs	SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.G246fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	246					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGCGCTCCCAGGCAGCATTC	0.446													30	132	---	---	---	---					
CFH	3075	broad.mit.edu	37	1	196683047	196683050	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr1:196683047_196683050delAGTA	ENST00000367429.4	+	10	1759	c.1519_splice	c.e10+1	p.507_splice		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	507	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CACGTGCATTAGTAAGTAATTTAT	0.333													15	113	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29294449	29294449	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:29294449delG	ENST00000331664.5	-	1	2678	c.2679delC	c.(2677-2679)ccfs	p.P893fs		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	893					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCTCTTGCTGGGCAGCAAGT	0.677													16	117	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	120	---	---	---	---					
CFAP221	200373	broad.mit.edu	37	2	120387474	120387474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:120387474delC	ENST00000602047.1	+	18	1928	c.816delC	c.(814-816)gtfs	p.V272fs	PCDP1_ENST00000413369.3_Frame_Shift_Del_p.V558fs			Q4G0U5	PCDP1_HUMAN		558						cilium	calmodulin binding					Colorectal(110;0.196)					TTGGACTGGTCCCAATTAAGT	0.378													13	147	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	RNA	DEL	G	G	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393													3	6	---	---	---	---					
ACKR3	57007	broad.mit.edu	37	2	237489276	237489277	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr2:237489276_237489277insA	ENST00000272928.3	+	2	478_479	c.168_169insA	c.(166-171)gttcggfs	p.R57fs		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TCATCTTCGTCATCGGCATGAT	0.530													10	56	---	---	---	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gtfs	p.V100fs	CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													9	524	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53217541	53217541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:53217541delG	ENST00000394729.2	+	8	1059	c.731delG	c.(730-732)ttfs	p.C244fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.C244fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	244					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CCCACCTTCTGTGACCACTGC	0.602													34	161	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	205	---	---	---	---					
CEP135	9662	broad.mit.edu	37	4	56841026	56841028	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr4:56841026_56841028delATT	ENST00000257287.4	+	11	1488_1490	c.1364_1366delATT	c.(1363-1368)gat>g	p.DY455del		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	455					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAACGAGATTATTATAAGAA	0.379													10	144	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129636919	129636919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr6:129636919delG	ENST00000421865.2	+	26	3797	c.3748delG	c.(3748-3750)ggfs	p.G1251fs		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1251	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGGCCTATGGGGGCAAACT	0.383													47	191	---	---	---	---					
ZNF786	136051	broad.mit.edu	37	7	148768585	148768587	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr7:148768585_148768587delAGG	ENST00000316286.9	-	3	1291_1293	c.1019_1021delCCT	c.(1018-1023)tgc>t	p.SC340del	ZNF786_ENST00000451334.3_In_Frame_Del_p.SC389del|ZNF786_ENST00000491431.1_In_Frame_Del_p.SC426del			Q8N393	ZN786_HUMAN	zinc finger protein 786	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CACTTCCTGCAGGAGAACGGTCT	0.621													10	100	---	---	---	---					
PTPLAD2	401494	broad.mit.edu	37	9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr9:21007045_21007046insT	ENST00000495827.1	-	7	734_735	c.689_690insA	c.(688-690)aaafs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371													8	207	---	---	---	---					
MS4A10	341116	broad.mit.edu	37	11	60559736	60559737	+	Splice_Site	INS	-	-	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:60559736_60559737insG	ENST00000308287.1	+	4	399		c.e4-1			NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10							integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TCTGTCCTGCAGTTTCTCATTT	0.465													25	298	---	---	---	---					
PANX1	24145	broad.mit.edu	37	11	93911534	93911535	+	Splice_Site	INS	-	-	T			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:93911534_93911535insT	ENST00000227638.3	+	3	706_707		c.e3-1		PANX1_ENST00000436171.2_Splice_Site	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1						positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGTTTTTCAGTTTTTCCCCTA	0.475													11	75	---	---	---	---					
C2CD2L	9854	broad.mit.edu	37	11	118984563	118984564	+	Splice_Site	INS	-	-	G			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr11:118984563_118984564insG	ENST00000336702.3	+	12	1850_1851	c.1489_splice	c.e12-1	p.PG497_splice	C2CD2L_ENST00000528586.1_Splice_Site	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	496						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CACCCCTAGCAGGGGACAGCCA	0.564													19	185	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6078535	6078535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:6078535delG	ENST00000261405.5	-	45	7825	c.7571delC	c.(7570-7572)cgfs	p.P2524fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2524					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGGTTCTCCGGGGAGGCCCA	0.602													19	173	---	---	---	---					
TENC1	23371	broad.mit.edu	37	12	53445670	53445672	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:53445670_53445672delAGA	ENST00000314250.6	+	2	397_399	c.107_109delAGA	c.(106-111)gag>g	p.EK36del	RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000552570.1_In_Frame_Del_p.EK36del|TENC1_ENST00000549700.1_In_Frame_Del_p.EK36del|TENC1_ENST00000451358.1_In_Frame_Del_p.EK36del|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000314276.3_In_Frame_Del_p.EK46del|TENC1_ENST00000546602.1_In_Frame_Del_p.EK36del|TENC1_ENST00000379902.3_5'UTR	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	36					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGCTTCCGGGAGAAGGTTTTCCG	0.562													11	225	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53876883	53876883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:53876883delG	ENST00000267079.2	-	12	1830	c.1605delC	c.(1603-1605)ccfs	p.P535fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.P568fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.P568fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	535					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GTCCTGGTGAGGGGGGGCCCT	0.642													25	104	---	---	---	---					
PAH	5053	broad.mit.edu	37	12	103306604	103306606	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr12:103306604_103306606delCTT	ENST00000553106.1	-	2	603_605	c.131_133delAAG	c.(130-135)gtt>g	p.EV44del	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_In_Frame_Del_p.EV39del	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	44	ACT.				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AATGCACCAACTTCTTCTTTGAG	0.369													8	247	---	---	---	---					
ACAN	176	broad.mit.edu	37	15	89399457	89399457	+	Frame_Shift_Del	DEL	C	C	-	rs71149236		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:89399457delC	ENST00000439576.2	+	12	4015	c.3641delC	c.(3640-3642)gcfs	p.A1214fs	ACAN_ENST00000559004.1_Frame_Shift_Del_p.A1214fs|ACAN_ENST00000352105.7_Frame_Shift_Del_p.A1214fs|ACAN_ENST00000561243.1_Frame_Shift_Del_p.A1214fs	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1214					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGACCGCTGCCCCTGGAGTA	0.567													36	85	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													4	3	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													11	535	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)del	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													7	142	---	---	---	---					
GAREM	64762	broad.mit.edu	37	18	29848727	29848727	+	Frame_Shift_Del	DEL	C	C	-	rs3891458	byFrequency	TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr18:29848727delC	ENST00000269209.6	-	6	1741	c.1738delG	c.(1738-1740)tcfs	p.V580fs	GAREM_ENST00000399218.4_Splice_Site_p.V579_splice					GRB2 associated, regulator of MAPK1																		GTTTTAGTGACGCTGCTTAAA	0.403													22	95	---	---	---	---					
TRIP10	9322	broad.mit.edu	37	19	6743027	6743028	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:6743027_6743028delTT	ENST00000313244.9	+	4	282_283	c.247_248delTT	c.(247-249)tfs	p.F83fs	TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Frame_Shift_Del_p.F83fs|TRIP10_ENST00000596758.1_Frame_Shift_Del_p.F83fs			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	83	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGTGAATGACTTTGCAGGCCAG	0.550													14	227	---	---	---	---					
COL5A3	50509	broad.mit.edu	37	19	10104101	10104102	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:10104101_10104102delAA	ENST00000264828.3	-	19	1788_1789	c.1703_1704delTT	c.(1702-1704)tfs	p.F568fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	568	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCACATGGCCAAAGTCACCCTG	0.589													33	384	---	---	---	---					
CKM	1158	broad.mit.edu	37	19	45811776	45811778	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:45811776_45811778delTTG	ENST00000221476.3	-	6	840_842	c.666_668delCAA	c.(664-669)aag>aa	p.NK222del		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	222	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CAGGAAGCTCTTGTTGTCATTGT	0.596													7	173	---	---	---	---					
LOC101928517	101928517	broad.mit.edu	37	19	51671447	51671447	+	RNA	DEL	C	C	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:51671447delC	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							GCAGGGAACACCCCCCATCTT	0.642													41	146	---	---	---	---					
MIR525	574470	broad.mit.edu	37	19	54200848	54200848	+	RNA	DEL	C	C	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr19:54200848delC	ENST00000384978.1	+	0	62					NR_030192.1																						GAAGGCGCTTCCCTTTAGAGC	0.423													30	128	---	---	---	---					
PSMA7	5688	broad.mit.edu	37	20	60715953	60715955	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr20:60715953_60715955delCTT	ENST00000370873.4	-	2	268_270	c.142_144delAAG	c.(142-144)del	p.K48del	PSMA7_ENST00000370861.1_5'UTR|PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_In_Frame_Del_p.K48del	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TGGCCACTGACTTCTTCTCCACA	0.483													22	275	---	---	---	---					
KRTAP13-4	284827	broad.mit.edu	37	21	31802765	31802765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr21:31802765delC	ENST00000334068.2	+	1	194	c.172delC	c.(172-174)ccfs	p.P58fs		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	58	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGCTGGGAGCCCGCCAGCTG	0.617													27	159	---	---	---	---					
BACE2	25825	broad.mit.edu	37	21	42647363	42647364	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chr21:42647363_42647364delTG	ENST00000330333.6	+	9	1832_1833	c.1369_1370delTG	c.(1369-1371)tfs	p.C457fs	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Frame_Shift_Del_p.C407fs|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	457					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGCCAGCAACTGTGTCCCCGCT	0.520													14	150	---	---	---	---					
SMC1A	8243	broad.mit.edu	37	X	53438821	53438823	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:53438821_53438823delCTT	ENST00000322213.4	-	7	1269_1271	c.1142_1144delAAG	c.(1141-1146)gcc>g	p.EA381del	SMC1A_ENST00000375340.6_In_Frame_Del_p.EA147del	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	381					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCTTGCTGGCTTCTTCTTTCAA	0.532													28	73	---	---	---	---					
TBC1D8B	54885	broad.mit.edu	37	X	106069406	106069408	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:106069406_106069408delATT	ENST00000357242.5	+	6	1148_1150	c.974_976delATT	c.(973-978)aat>a	p.NY325del	TBC1D8B_ENST00000310452.2_In_Frame_Del_p.NY325del|TBC1D8B_ENST00000481617.2_In_Frame_Del_p.NY325del|TBC1D8B_ENST00000276175.3_In_Frame_Del_p.NY325del	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	325	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCTCAGAAAATTATATCTGCTT	0.369													8	140	---	---	---	---					
HMGB3	3149	broad.mit.edu	37	X	150154626	150154628	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-8301-01A-11D-2284-08	TCGA-55-8301-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b52c32-fccf-47ea-bb8b-896974602035	5b258575-af4d-4869-b735-799eb61cf67a	g.chrX:150154626_150154628delAAG	ENST00000325307.7	+	3	349_351	c.253_255delAAG	c.(253-255)del	p.K88del	HMGB3_ENST00000448905.2_In_Frame_Del_p.K88del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	88					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGGGAGGCAAGAAGAAGAAGG	0.409													12	29	---	---	---	---					
