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
PER3	8863	broad.mit.edu	37	1	7880644	7880644	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:7880644G>A	uc001aop.3	+	14	2125	c.1901G>A	c.(1900-1902)gGc>gAc	p.G634D	PER3_uc009vmg.1_Missense_Mutation_p.G634D|PER3_uc009vmh.1_Missense_Mutation_p.G627D|PER3_uc001aoo.3_Missense_Mutation_p.G626D|PER3_uc010nzw.2_Missense_Mutation_p.G315D	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	626	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGTCGGGCATAAGCCAA	0.512												
LOC649330	649330	broad.mit.edu	37	1	12907821	12907821	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:12907821A>T	uc010obf.2	-	1	548	c.322T>A	c.(322-324)Tct>Act	p.S108T	LOC649330_uc009vno.2_Missense_Mutation_p.S108T	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	108							nucleic acid binding|nucleotide binding										AAGTCAAAAGAGGAGCCGTAC	0.493												
HPCAL4	51440	broad.mit.edu	37	1	40150150	40150150	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:40150150G>A	uc001cdr.3	-	1	246	c.126C>T	c.(124-126)atC>atT	p.I42I	HPCAL4_uc010oix.2_Silent_p.I42I	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	42	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAGGTTGAGGATGCCGCTGG	0.627												
ELTD1	64123	broad.mit.edu	37	1	79383365	79383365	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:79383365T>C	uc001diq.4	-	11	1859	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	568					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATAAAGTTGTTTTCGGTGCT	0.279												
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296	by1000genomes	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:204438072delG	uc001haw.3	-	2	1338	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_uc010pqv.2_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622												
SLC26A9	115019	broad.mit.edu	37	1	205890886	205890886	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:205890886G>A	uc001hdp.3	-	16	1977	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	SLC26A9_uc001hdo.3_Silent_p.S289S|SLC26A9_uc001hdq.3_Silent_p.S621S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	621	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TATAGGACACGCTGGTGCCGT	0.642												
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:241959665G>A	uc001hzg.2	+	25	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_uc021plh.1_Missense_Mutation_p.R679H|WDR64_uc021pli.1_Missense_Mutation_p.R605H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378												
OR51B6	390058	broad.mit.edu	37	11	5373571	5373571	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:5373571C>A	uc010qzb.2	+	0	834	c.834C>A	c.(832-834)caC>caA	p.H278Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATCCACTTCCTTTTCC	0.398												
ADM	133	broad.mit.edu	37	11	10327296	10327296	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:10327296C>T	uc001mil.1	+	1	205	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	17					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCTCGCCTTCCTAGGCGCTGA	0.612												
CHST1	8534	broad.mit.edu	37	11	45671304	45671304	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:45671304C>T	uc021qgn.1	-	0	1170	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CHST1_uc001mys.2_Silent_p.S390S	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	390					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTCCTCCTCCGAGGCGGCGA	0.692												
OR4P4	81300	broad.mit.edu	37	11	55406609	55406609	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55406609C>T	uc010rij.2	+	0	776	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TACATTAGACCGGTCACAACA	0.418												
OR5D13	390142	broad.mit.edu	37	11	55541762	55541762	+	Silent	SNP	G	G	A	rs150209335	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55541762G>A	uc010ril.2	+	0	849	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A283A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACACAGTGGCGATTCCAATGC	0.363												
OR6Q1	219952	broad.mit.edu	37	11	57798597	57798597	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:57798597G>A	uc010rjz.2	+	0	173	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CACCGACTACGGAGACCCATG	0.483												
PLAC1L	219990	broad.mit.edu	37	11	59807922	59807922	+	Translation_Start_Site	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:59807922C>T	uc001nol.3	+	0						NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCTGCTCAGACGAAGGTCTCC	0.473												
SLC22A11	55867	broad.mit.edu	37	11	64329558	64329558	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:64329558G>A	uc001oai.3	+	2	954	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc009ypq.3_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	194					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCCAACATTCGTCATCTACTG	0.622											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
RAB38	23682	broad.mit.edu	37	11	87847172	87847172	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:87847172C>A	uc001pcj.2	-	2	703	c.620G>T	c.(619-621)gGc>gTc	p.G207V		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	207					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTGGCACAGCCAGAGCAGCT	0.473												
CCND2	894	broad.mit.edu	37	12	4409083	4409083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:4409083C>T	uc001qmo.3	+	4	1083	c.778C>T	c.(778-780)Cag>Tag	p.Q260*		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	260					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TAGCCTGCAGCAGTACCGTCA	0.542			T	IGL@	"""NHL,CLL"""							
DDX12P	440081	broad.mit.edu	37	12	9571427	9571427	+	Nonsense_Mutation	SNP	G	G	A	rs150028727	by1000genomes	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:9571427G>A	uc001qvy.1	-	2					DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		ACGCGGGCTCGGATCCAGGCC	0.617												
PRPF40B	25766	broad.mit.edu	37	12	50030609	50030609	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:50030609C>T	uc001rur.1	+	14	1534	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	491					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACGCCAACAACGCAAGAATCG	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LEMD3	23592	broad.mit.edu	37	12	65564282	65564282	+	Silent	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:65564282C>A	uc001ssl.2	+	0	932	c.906C>A	c.(904-906)gcC>gcA	p.A302A	LEMD3_uc009zqo.2_Silent_p.A302A	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	302					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CTAAATCGGCCGGCGGCAGGC	0.622												
GLT1D1	144423	broad.mit.edu	37	12	129360521	129360521	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:129360521G>A	uc010tbh.1	+	1	107	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	44					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGAAAGCCGATCTGAGATT	0.488												
F7	2155	broad.mit.edu	37	13	113771870	113771870	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr13:113771870C>T	uc001vsv.3	+	7	816	c.765C>T	c.(763-765)ttC>ttT	p.F255F	F7_uc001vsw.3_Silent_p.F233F|F7_uc010tjt.2_Silent_p.F186F	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	255	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCACTGTTTCGACAAAATCA	0.622												
STYX	6815	broad.mit.edu	37	14	53217446	53217446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:53217446C>T	uc010tqy.2	+	4	252	c.190C>T	c.(190-192)Cga>Tga	p.R64*	STYX_uc001xaa.3_Nonsense_Mutation_p.R64*	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN	Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.	64					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AATATGCATACGACAAAATAT	0.289												
UNC79	57578	broad.mit.edu	37	14	94109960	94109960	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:94109960C>T	uc001ybv.1	+	32	5696	c.5613C>T	c.(5611-5613)gcC>gcT	p.A1871A	UNC79_uc001ybs.1_Silent_p.A1849A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2026						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGGGCTAGCCATCGTGGTCC	0.498												
AHNAK2	113146	broad.mit.edu	37	14	105418809	105418809	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:105418809G>A	uc010axc.1	-	6	3099	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A893A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	993						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTGTCTTTGGCAGTCACGT	0.602												
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr15:22709152G>T	uc010axw.2	-	10	1245	c.347C>A	c.(346-348)gCg>gAg	p.A116E	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		GGCCTGGAGCGCTCCTGCCAC	0.607												
SYNM	23336	broad.mit.edu	37	15	99671205	99671205	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr15:99671205C>T	uc002bup.3	+	4	2757	c.2637C>T	c.(2635-2637)gaC>gaT	p.D879D	SYNM_uc002buo.3_Silent_p.D879D|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	880	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACAGAAGGACGGTGCAGTGG	0.582												
GRIN2A	2903	broad.mit.edu	37	16	9857448	9857448	+	Missense_Mutation	SNP	C	C	T	rs149745535		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:9857448C>T	uc010uym.2	-	13	4263	c.3953G>A	c.(3952-3954)cGg>cAg	p.R1318Q	GRIN2A_uc002czo.4_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1318					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1318W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCAGAAGCCGTTCCCTGTC	0.527												
DNAH3	55567	broad.mit.edu	37	16	21156695	21156695	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:21156695C>G	uc010vbe.2	-	2	255	c.255G>C	c.(253-255)ttG>ttC	p.L85F	DNAH3_uc002die.2_Missense_Mutation_p.L56F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	85	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCGTTGCATCAAGGGCGGGT	0.527												
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:24807240delA	uc002dmm.3	+	8	3655	c.3541delA	c.(3541-3543)aaafs	p.K1181fs	TNRC6A_uc010bxs.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.3_Frame_Shift_Del_p.K869fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1181	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398												
SEZ6L2	26470	broad.mit.edu	37	16	29884862	29884862	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:29884862C>T	uc010vec.2	-	12	2538	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.A695T|SEZ6L2_uc002dur.4_Missense_Mutation_p.A695T|SEZ6L2_uc002duq.4_Missense_Mutation_p.A765T|SEZ6L2_uc010ved.2_Missense_Mutation_p.A721T|SEZ6L2_uc002dus.4_Missense_Mutation_p.A651T	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	765	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCACAGGCGCATTTGGGG	0.672												
CMTM2	146225	broad.mit.edu	37	16	66613682	66613682	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:66613682C>T	uc002ept.3	+	0	332	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	CMTM2_uc010cdu.3_Missense_Mutation_p.P58S	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	58					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)		GGCGGTGCAGCCCAAGCACGA	0.557												
DNAI2	64446	broad.mit.edu	37	17	72308276	72308276	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:72308276G>A	uc002jkf.3	+	11	1739	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	DNAI2_uc002jkg.3_Silent_p.A531A|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	543					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCTGGAGGCGCTGGTCAGCA	0.617									Kartagener syndrome			
QRICH2	84074	broad.mit.edu	37	17	74276772	74276772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:74276772delT	uc002jrd.1	-	9	4106	c.3926delA	c.(3925-3927)aagfs	p.K1309fs	QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1309							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTGTTGGCCTTTTCCTTTTC	0.587												
SERPINB13	5275	broad.mit.edu	37	18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	rs139825462		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr18:61255920G>A	uc010xep.2	+	1	187	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_uc002ljc.3_Missense_Mutation_p.V7I|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	7					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.V7I(6)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418												
CLEC4M	10332	broad.mit.edu	37	19	7833731	7833731	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:7833731C>T	uc010dvt.3	+	6	1175	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	CLEC4M_uc002mih.3_Missense_Mutation_p.R330W|CLEC4M_uc010xjw.2_Missense_Mutation_p.R286W|CLEC4M_uc010dvs.3_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.2_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.3_Missense_Mutation_p.A223V|CLEC4M_uc002mic.3_Missense_Mutation_p.A287V|CLEC4M_uc002mia.3_Missense_Mutation_p.R217W	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	353	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGCTTCCAGCGGTACTGGAA	0.498												
SLC1A6	6511	broad.mit.edu	37	19	15067440	15067440	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:15067440C>T	uc002naa.1	-	5	1024	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	339					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGTACATGCCCAGCTGACCCC	0.587												
KCNN1	3780	broad.mit.edu	37	19	18084899	18084899	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:18084899G>A	uc002nht.3	+	2	512	c.202G>A	c.(202-204)Gat>Aat	p.D68N	KCNN1_uc010xqa.1_Missense_Mutation_p.D68N	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	68					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GGACCAGGACGATGACGAGGA	0.701												
PSG4	5675	broad.mit.edu	37	19	43414919	43414919	+	Silent	SNP	C	C	T	rs1065506		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:43414919C>T	uc002ovj.1	-	2	618	c.519G>A	c.(517-519)ccG>ccA	p.P173P	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.P173P	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	174	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGCTTGCATCCGGAGTCTCAG	0.532												
SIGLEC5	8778	broad.mit.edu	37	19	52115643	52115643	+	Silent	SNP	G	G	A	rs141897891	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:52115643G>A	uc002pxe.3	-	8	1636	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	499			P -> A (in dbSNP:rs3829655).		cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGGGGCTGTCTG	0.507												
NLRP5	126206	broad.mit.edu	37	19	56515208	56515208	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:56515208C>T	uc002qmj.3	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y	NLRP5_uc002qmi.3_Silent_p.Y63Y	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	63	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTTCCAGCTACGGGCTGCAAT	0.423												
KLF11	8462	broad.mit.edu	37	2	10186413	10186413	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:10186413G>T	uc002raf.1	+	1	341	c.179G>T	c.(178-180)aGa>aTa	p.R60I	KLF11_uc021vdq.1_Missense_Mutation_p.R43I|KLF11_uc010yjc.2_Missense_Mutation_p.R43I	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	60					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGGGGTCAAAGATCCCAGAAA	0.537												
LAPTM4A	9741	broad.mit.edu	37	2	20240757	20240757	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:20240757T>A	uc002rdm.3	-	1	635	c.127A>T	c.(127-129)Atg>Ttg	p.M43L	LAPTM4A_uc010yjx.2_Missense_Mutation_p.M43L	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA.	43					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAATTGCCATCAATAGGTTT	0.378												
PROM2	150696	broad.mit.edu	37	2	95947041	95947041	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:95947041C>T	uc002suk.3	+	11	1612	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	PROM2_uc002suh.2_Silent_p.F493F|PROM2_uc002sui.3_Silent_p.F493F|PROM2_uc002suj.3_Silent_p.F147F|PROM2_uc002sul.3_Silent_p.F19F|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	493						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGGTGTTCGCCACCTTCC	0.642												
DPP10	57628	broad.mit.edu	37	2	116534868	116534868	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:116534868C>A	uc002tle.3	+	13	1339	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K	DPP10_uc002tla.2_Missense_Mutation_p.Q436K|DPP10_uc002tlb.2_Missense_Mutation_p.Q386K|DPP10_uc002tlc.2_Missense_Mutation_p.Q432K|DPP10_uc002tlf.2_Missense_Mutation_p.Q429K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	436					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGAAACTACTCAAAAAATGTG	0.378												
SCN2A	6326	broad.mit.edu	37	2	166179852	166179852	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:166179852C>T	uc002udc.3	+	11	2148	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	SCN2A_uc002udd.3_Missense_Mutation_p.R620W|SCN2A_uc002ude.3_Missense_Mutation_p.R620W	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	620					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)	ACATGGAGAACGGCGCCACAG	0.562												
SPEG	10290	broad.mit.edu	37	2	220329174	220329174	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:220329174G>A	uc010fwg.3	+	8	2725	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.V117M|SPEG_uc002vln.1_Missense_Mutation_p.V117M|SPEG_uc002vlp.1_Missense_Mutation_p.V117M|SPEG_uc002vlq.3_Missense_Mutation_p.V60M	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	909	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGCCAGCCCGTGCGCCCAGA	0.662												
SPHKAP	80309	broad.mit.edu	37	2	228856023	228856023	+	Nonsense_Mutation	SNP	T	T	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:228856023T>A	uc002vpq.2	-	9	4788	c.4741A>T	c.(4741-4743)Aag>Tag	p.K1581*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1581						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTAAGAATCTTCTTTTCTTCT	0.403												
SALL4	57167	broad.mit.edu	37	20	50407509	50407509	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:50407509C>T	uc002xwh.4	-	1	1614	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G505S(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCAGGTCACCGGGCAAGGAG	0.567												
ZGPAT	84619	broad.mit.edu	37	20	62365995	62365995	+	Splice_Site	SNP	A	A	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:62365995A>C	uc002ygk.3	+	5	1061	c.872_splice	c.e5-2	p.V291_splice	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	291					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CATCTCTTGCAGTGGTGGGGT	0.622												
NRIP1	8204	broad.mit.edu	37	21	16339283	16339283	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr21:16339283G>T	uc021whl.1	-	0	1231	c.1231C>A	c.(1231-1233)Cct>Act	p.P411T	NRIP1_uc002yjx.2_Missense_Mutation_p.P411T	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	411	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATAGTTGTAGGTGTACTACTT	0.373												
TUBA8	51807	broad.mit.edu	37	22	18609536	18609536	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:18609536G>A	uc002znw.1	+	2	1160	c.863G>A	c.(862-864)cGc>cAc	p.R288H	TUBA8_uc002znv.2_Missense_Mutation_p.R264H|TUBA8_uc021wkt.1_Missense_Mutation_p.R198H	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	264					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCCTACCCCCGCATCCACTTC	0.567												
SCUBE1	80274	broad.mit.edu	37	22	43600126	43600126	+	Silent	SNP	G	G	A	rs140846155	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:43600126G>A	uc003bdt.2	-	21	2971	c.2844C>T	c.(2842-2844)gaC>gaT	p.D948D		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	948					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCGCCAGCACGTCGAAGAGGG	0.572												
IL5RA	3568	broad.mit.edu	37	3	3139660	3139660	+	Silent	SNP	A	A	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:3139660A>C	uc011ask.2	-	7	1247	c.603T>G	c.(601-603)acT>acG	p.T201T	IL5RA_uc010hbq.3_Silent_p.T201T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.T201T|IL5RA_uc011asl.2_Silent_p.T201T|IL5RA_uc011asm.1_Silent_p.T201T|IL5RA_uc010hbt.2_Silent_p.T201T|IL5RA_uc011asn.1_Silent_p.T201T|IL5RA_uc010hbu.2_Silent_p.T201T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	201					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGAGGATAAAAGTCCTGGGAA	0.493												
FAM19A1	407738	broad.mit.edu	37	3	68466552	68466552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:68466552C>T	uc003dnd.3	+	2	457	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	FAM19A1_uc003dne.3_Missense_Mutation_p.R81W|FAM19A1_uc003dng.3_Missense_Mutation_p.R81W	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	81						endoplasmic reticulum|extracellular region		p.R81Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AACAAGAAACCGGCCTTCTTG	0.418												
HPS3	84343	broad.mit.edu	37	3	148868422	148868422	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148868422G>A	uc003ewu.1	+	5	1340	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	HPS3_uc011bnq.1_Silent_p.A235A|HPS3_uc021xfk.1_Silent_p.A293A	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	400						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTGCAGTGCGGCGGCAGCTC	0.532									Hermansky-Pudlak syndrome			
CP	1356	broad.mit.edu	37	3	148925268	148925268	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148925268G>T	uc003ewy.4	-	4	1171	c.918C>A	c.(916-918)aaC>aaA	p.N306K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N87K|CP_uc003ewz.3_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	306	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGTAGTTCTTGTTAGTCAGTG	0.458												
SAMD7	344658	broad.mit.edu	37	3	169654200	169654200	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:169654200G>C	uc003fgd.3	+	7	1382	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	SAMD7_uc003fge.3_Missense_Mutation_p.G372A|SAMD7_uc011bpo.2_Missense_Mutation_p.G273A	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	372	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCACTATGGGATTAAAGCTA	0.343												
PCDHB12	56124	broad.mit.edu	37	5	140589502	140589502	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:140589502C>T	uc003liz.3	+	0	1212	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	PCDHB12_uc011dak.2_Silent_p.N4N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTAAACGACAACGCTC	0.413												
GFPT2	9945	broad.mit.edu	37	5	179731784	179731784	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731784G>A	uc003mlw.1	-	16	1928	c.1830C>T	c.(1828-1830)gtC>gtT	p.V610V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	610	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGCGGGCCGTGACTTGCTGCA	0.592												
GFPT2	9945	broad.mit.edu	37	5	179731922	179731922	+	Silent	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731922G>C	uc003mlw.1	-	16	1790	c.1692C>G	c.(1690-1692)acC>acG	p.T564T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	564	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGTGCATGTAGGTTATCTCTT	0.537												
VARS2	57176	broad.mit.edu	37	6	30883807	30883807	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr6:30883807G>T	uc011dmz.2	+	5	727	c.646G>T	c.(646-648)Gca>Tca	p.A216S	VARS2_uc003nsc.2_Missense_Mutation_p.A186S|VARS2_uc003nsd.3_Missense_Mutation_p.A186S|VARS2_uc011dmx.2_Missense_Mutation_p.A186S|VARS2_uc011dmy.2_Missense_Mutation_p.A46S|VARS2_uc011dna.2_Missense_Mutation_p.A186S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	186					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTCAGATCATGCAGGAATTGC	0.478												
CLCN1	1180	broad.mit.edu	37	7	143047569	143047569	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr7:143047569G>C	uc003wcr.1	+	21	2595	c.2508_splice	c.e21+1	p.K836_splice	CLCN1_uc011ktc.1_Splice_Site_p.K448_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	836	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCTGCACAAGGTGAGTCTTT	0.567												
WHSC1L1	54904	broad.mit.edu	37	8	38148069	38148069	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:38148069G>A	uc003xli.3	-	16	3560	c.3042C>T	c.(3040-3042)ggC>ggT	p.G1014G	WHSC1L1_uc011lbm.2_Silent_p.G1014G|WHSC1L1_uc010lwe.3_Silent_p.G965G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1014	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGAACACTCTGCCCTGGTGTA	0.463			T	NUP98	AML							
JPH1	56704	broad.mit.edu	37	8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:75171695C>T	uc003yae.3	-	2	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T	JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597												
RALYL	138046	broad.mit.edu	37	8	85774546	85774546	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:85774546C>T	uc003yct.4	+	5	602	c.468C>T	c.(466-468)caC>caT	p.H156H	RALYL_uc003ycq.4_Silent_p.H143H|RALYL_uc003ycr.4_Silent_p.H143H|RALYL_uc003ycs.4_Silent_p.H143H|RALYL_uc010lzy.3_Silent_p.H132H|RALYL_uc003ycu.4_Silent_p.H70H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	143							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTGATTACCACGGGCGTGTGC	0.483												
CORO2A	7464	broad.mit.edu	37	9	100897128	100897128	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr9:100897128G>A	uc004aym.3	-	3	544	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CORO2A_uc004ayl.3_Missense_Mutation_p.T143M	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	143					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTGGCGGCCGTGGGGTGCCA	0.587												
RAB9A	9367	broad.mit.edu	37	X	13727279	13727279	+	Silent	SNP	C	C	G	rs146572677	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chrX:13727279C>G	uc022bte.1	+	0	414	c.414C>G	c.(412-414)gcC>gcG	p.A138A	RAB9A_uc004cvm.3_Silent_p.A138A|RAB9A_uc010neh.3_Silent_p.A138A	NM_004251	NP_004242	P51151	RAB9A_HUMAN	Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.	138					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	p.A138V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CAGAAGAAGCCCAAGCTTGGT	0.458