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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HLA-DMB	3109	broad.mit.edu	37	6	32905009	32905009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:32905009C>T	uc003ocl.2	-	2	825	c.562G>A	c.(562-564)Gac>Aac	p.D188N	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_Missense_Mutation_p.D57N|HLA-DMB_uc010jue.2_Missense_Mutation_p.D57N|HLA-DMB_uc010juf.2_Missense_Mutation_p.D57N|HLA-DMB_uc003ocj.2_3'UTR|HLA-DMB_uc011dql.2_Missense_Mutation_p.D188N	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	188	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane		p.G187R(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGTAAGTGTCCCCGTAAGAG	0.552000														39			32		0	0	0.00178596	0	0
CSPG4	1464	broad.mit.edu	37	15	75979994	75979994	+	Missense_Mutation	SNP	G	A	A	rs142931023	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:75979994G>A	uc002baw.3	-	2	3505	c.3412C>T	c.(3412-3414)Cct>Tct	p.P1138S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1138	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCCTTGAGGGACCACAAGG	0.662000														54			24		0	0	0.00106085	0	0
SLC25A3	5250	broad.mit.edu	37	12	98995011	98995011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:98995011G>A	uc001tfo.3	+	6	1000	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	SLC25A3_uc001tfm.3_Missense_Mutation_p.E293K|SLC25A3_uc001tfn.3_Missense_Mutation_p.E293K|SLC25A3_uc001tfp.3_Missense_Mutation_p.E293K|SLC25A3_uc001tfq.3_Missense_Mutation_p.E163K|SLC25A3_uc001tfr.3_Missense_Mutation_p.E294K|SLC25A3_uc001tfs.3_Missense_Mutation_p.E250K	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	294					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GTTGAATAAAGAAAAAGGTAG	0.378000														20			22		0	0	0.000586117	0	0
ZNF664	144348	broad.mit.edu	37	12	124496987	124496987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:124496987G>A	uc001ugb.3	+	4	1325	c.296G>A	c.(295-297)aGc>aAc	p.S99N	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Missense_Mutation_p.S99N|ZNF664_uc021rfz.1_Missense_Mutation_p.S99N	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTCAATTGGAGCTCCCATCTT	0.393000														39			29		0	0	0.00127121	0	0
PARM1	25849	broad.mit.edu	37	4	75938092	75938092	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:75938092G>A	uc003hih.2	+	1	754	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	167					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACCACCTGAGGTCTTTTCTG	0.582000														117			99		0	0	0.000781405	0	0
RNF111	54778	broad.mit.edu	37	15	59359153	59359153	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:59359153C>T	uc002afv.3	+	5	1836	c.1557C>T	c.(1555-1557)caC>caT	p.H519H	RNF111_uc002afs.3_Silent_p.H519H|RNF111_uc002aft.3_Silent_p.H519H|RNF111_uc002afu.3_Silent_p.H519H|RNF111_uc002afw.3_Silent_p.H519H|RNF111_uc002afx.3_Silent_p.H46H	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	519	His-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCACCACCACCATACTCCCC	0.498000														45			25		0	0	0.000878237	0	0
SCN4A	6329	broad.mit.edu	37	17	62024439	62024439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:62024439G>A	uc002jds.1	-	17	3484	c.3407C>T	c.(3406-3408)cCc>cTc	p.P1136L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1136					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCCTCAGGGGACGCAGGGC	0.672000											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			7		0	0	0.00198382	0	0
KRT31	3881	broad.mit.edu	37	17	39550277	39550277	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:39550277G>A	uc002hwn.3	-	6	1295	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	414	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCTAGCGCACGAAGGAATTGC	0.612000														22			26		0	0	0.000586117	0	0
OR4M1	441670	broad.mit.edu	37	14	20248981	20248981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:20248981C>T	uc010tku.2	+	0	500	c.500C>T	c.(499-501)cCt>cTt	p.P167L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTCGACTTCCTTTCTGTGGG	0.493000														94			55		0	0	0.000781405	0	0
POU1F1	5449	broad.mit.edu	37	3	87313611	87313611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:87313611C>T	uc010hoj.1	-	2	469	c.344G>A	c.(343-345)gGa>gAa	p.G115E	POU1F1_uc003dqq.1_Missense_Mutation_p.G89E	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	89					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGGAGGAAATCCATGACTCAA	0.423000														42			50		0	0	0.000781405	0	0
DGKI	9162	broad.mit.edu	37	7	137237234	137237234	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:137237234G>A	uc003vtt.3	-	19	2029	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	DGKI_uc003vtu.3_Silent_p.P376P	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	676					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCACTTGCATGGGGATGGATT	0.507000														80			131		0	0	0.000781405	0	0
ZNF184	7738	broad.mit.edu	37	6	27419892	27419892	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:27419892G>A	uc003njj.3	-	4	2257	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A	ZNF184_uc010jqv.3_Silent_p.A482A|ZNF184_uc003nji.3_Silent_p.A482A	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTAACTGAAGGCCTTTCCAC	0.403000														34			21		0	0	0.00278032	0	0
ZNF23	7571	broad.mit.edu	37	16	71482512	71482512	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:71482512C>T	uc002faf.3	-	5	2230	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	ZNF23_uc002fah.3_Silent_p.G472G|ZNF23_uc002fad.3_Silent_p.G414G|ZNF23_uc010vmf.2_Silent_p.G414G|ZNF23_uc002fag.3_Silent_p.G414G|ZNF23_uc002fai.3_Silent_p.G511G	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGGTTTCTCCCCAGTGTGAA	0.428000														29			14		0	0	0.000308642	0	0
APOB	338	broad.mit.edu	37	2	21231126	21231126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:21231126C>T	uc002red.3	-	25	8742	c.8614G>A	c.(8614-8616)Gga>Aga	p.G2872R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2872					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACAATCACTCCATTACTAAGC	0.393000														320			318		0	0	0.000781405	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185144	193185144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:193185144C>T	uc003ftd.3	-	9	1183	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	ATP13A4_uc003fte.1_Missense_Mutation_p.A359T|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Missense_Mutation_p.A65T	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	359					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAGAGCAAGCTGCCTTGGCC	0.498000														20			24		0	0	0.00229938	0	0
ZNF323	64288	broad.mit.edu	37	6	28294089	28294089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:28294089C>T	uc003nlc.3	-	3	1464	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	ZNF323_uc003nld.3_Missense_Mutation_p.A359T|ZNF323_uc010jra.3_Missense_Mutation_p.A359T|ZNF323_uc003nla.3_Missense_Mutation_p.A359T|ZNF323_uc003nlb.3_Missense_Mutation_p.A200T|ZNF323_uc010jrb.3_Missense_Mutation_p.A200T|ZNF323_uc021yrs.1_Missense_Mutation_p.A359T|ZNF323_uc021yrt.1_Missense_Mutation_p.A200T	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TGAATGAAGGCTTTGCCACAC	0.502000														92			90		0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882929	228882929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:228882929G>A	uc002vpq.2	-	6	2688	c.2641C>T	c.(2641-2643)Cca>Tca	p.P881S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P881S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P881S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	881						cytoplasm	protein binding	p.P881Q(1)		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)		TGGGTGTTTGGGTGGATACTC	0.517000														95			65		0	0	0.000781405	0	0
KRT73	319101	broad.mit.edu	37	12	53009995	53009995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:53009995G>A	uc001sas.3	-	1	652	c.617C>T	c.(616-618)tCg>tTg	p.S206L		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	206	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCAGCTCCGAGTCCAGCCT	0.607000														57			48		0	0	0.000781405	0	0
FGF9	2254	broad.mit.edu	37	13	22255210	22255210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:22255210G>A	uc001uog.2	+	1	1144	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	103					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TATAGCAGTGGGCCTGGTCAG	0.512000														69			53		0	0	0.000781405	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800571	185800571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:185800571G>A	uc002uph.3	+	3	1042	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	150						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACTGTAATGAAATTTCCCA	0.373000														25			23		0	0	0.00047179	0	0
CCDC3	83643	broad.mit.edu	37	10	12940435	12940435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:12940435G>A	uc001ilq.1	-	2	928	c.794C>T	c.(793-795)cCc>cTc	p.P265L	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	265						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CAGGTAGGGGGGGCGCACGGG	0.642000														2			11		0	0	0.000978159	0	0
SP100	6672	broad.mit.edu	37	2	231406079	231406079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:231406079C>T	uc002vqu.1	+	26	2536	c.2395C>T	c.(2395-2397)Ccg>Tcg	p.P799S	SP100_uc010fxp.1_Missense_Mutation_p.P117S	NM_001080391	NP_001073860	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CGCCTCAGAACCGTATTATGT	0.393000														23			20		0	0	0.00152264	0	0
FGD2	221472	broad.mit.edu	37	6	36981496	36981496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:36981496G>A	uc010jwp.1	+	4	810	c.639G>A	c.(637-639)tgG>tgA	p.W213*	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Nonsense_Mutation_p.W19*	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	213	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGGCCACCTGGACCGACAAGT	0.597000														18			9		0	0	0.000442599	0	0
SLC25A6	293	broad.mit.edu	37	X	1505546	1505546	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:1505546C>A	uc004cpt.3	-	3	983	c.846G>T	c.(844-846)atG>atT	p.M282I	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	282					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.G284fs*14(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	AGGCGCCCCCCATGCCCCGCA	0.607000														76			63		2.26907e-38	7.9175e-38	0.000781405	1	0
PIK3R5	23533	broad.mit.edu	37	17	8792491	8792491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:8792491C>T	uc002glt.3	-	8	927	c.860G>A	c.(859-861)aGg>aAg	p.R287K	PIK3R5_uc010vuz.2_Missense_Mutation_p.R287K|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	287				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGTGTAGCACCTGGCGACAGG	0.592000														11			22		0	0	0.00209593	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876460	120876460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:120876460C>T	uc003eec.4	+	8	1003	c.863C>T	c.(862-864)aCc>aTc	p.T288I	STXBP5L_uc011bji.2_Missense_Mutation_p.T288I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	288					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTTTCCAGACCACAATTCCA	0.418000														26			19		0	0	0.00152264	0	0
EPPK1	83481	broad.mit.edu	37	8	144944881	144944881	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144944881C>T	uc003zaa.1	-	0	2554	c.2541G>A	c.(2539-2541)agG>agA	p.R847R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	847						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAGCTGCCTCCTGCGGCCCT	0.642000														9			11		0	0	0.00136819	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					30			61		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179469580	179469580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179469580G>A	uc021vsy.1	-	229	46757	c.46532C>T	c.(46531-46533)gCt>gTt	p.A15511V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A9206V|TTN_uc021vta.1_Missense_Mutation_p.A9139V|TTN_uc021vtb.1_Missense_Mutation_p.A9014V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16438	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGATTCAGCTTTAATGTC	0.423000														41			23		0	0	0.00047179	0	0
PCLO	27445	broad.mit.edu	37	7	82390007	82390007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:82390007G>A	uc003uhx.2	-	23	15525	c.15236C>T	c.(15235-15237)tCg>tTg	p.S5079L		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5002					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCATTAAACGAAGGCTCTCG	0.323000														71			43		0	0	0.000781405	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572788	140572788	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:140572788C>T	uc003lix.3	+	0	837	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCATCCAGGTCTGGGA	0.542000														3			43		0	0	0.00195071	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077423	79077424	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:79077423_79077424CC>TT	uc002jzg.2	+	7	872_873	c.764_765CC>TT	c.(763-765)ccc>cTT	p.P255L	BAIAP2_uc002jyz.4_Missense_Mutation_p.P255L|BAIAP2_uc002jza.2_Missense_Mutation_p.P255L|BAIAP2_uc002jzc.2_Missense_Mutation_p.P255L|BAIAP2_uc002jzb.2_Missense_Mutation_p.P12L|BAIAP2_uc010wuh.1_Missense_Mutation_p.P177L|BAIAP2_uc002jzd.2_Missense_Mutation_p.P255L|BAIAP2_uc002jzf.2_Missense_Mutation_p.P255L|BAIAP2_uc002jze.2_Missense_Mutation_p.P288L|BAIAP2_uc002jzh.2_Missense_Mutation_p.P256L|BAIAP2_uc010wui.2_Missense_Mutation_p.P118L	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	255					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCACCCTCCCCAGCGCCCTGT	0.708000														18			6		0	0	6.4e-05	0	0
DCC	1630	broad.mit.edu	37	18	50994285	50994285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:50994285G>A	uc002lfe.2	+	24	4257	c.3641G>A	c.(3640-3642)gGg>gAg	p.G1214E	DCC_uc010dpf.2_Missense_Mutation_p.G849E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1214					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGGAAGCAGGGAGCTCTATG	0.522000														7			29		0	0	0.0024448	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839966	122839966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:122839966C>T	uc003vkm.3	-	0	60	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	12						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAAGAGAAATCGGCGATAAAC	0.438000														51			31		0	0	0.000814825	0	0
KRT7	3855	broad.mit.edu	37	12	52642524	52642524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:52642524C>T	uc001saa.1	+	8	1517	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	KRT86_uc010snq.2_5'Flank	NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	464	Tail.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		ATCCGCCAGTCGCAGGAGTGC	0.647000														18			9		0	0	0.000442599	0	0
CADM3	57863	broad.mit.edu	37	1	159163801	159163801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:159163801G>A	uc001ftl.2	+	4	841	c.662G>A	c.(661-663)aGa>aAa	p.R221K	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.R255K	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	221	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R255T(2)|p.T221A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGAGCTGACAGATCCACCTCT	0.502000														70			39		0	0	0.000680045	0	0
SEC16B	89866	broad.mit.edu	37	1	177927976	177927977	+	Splice_Site	DNP	CC	TA	TA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:177927976_177927977CC>TA	uc001glj.1	-	14	2003	c.1137_splice	c.e14+1	p.G379_splice	SEC16B_uc001glk.1_Splice_Site_p.G55_splice|SEC16B_uc001glh.1_Splice_Site_p.G37_splice|SEC16B_uc001gli.1_Splice_Site_p.G378_splice|SEC16B_uc009wwz.1_Splice_Site_p.G37_splice|SEC16B_uc001gll.4_Splice_Site_p.G379_splice	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	378					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGAACTTACCCCATTCTGGCGA	0.455000														16			9		0	0	6.4e-05	0	0
PAQR6	79957	broad.mit.edu	37	1	156214933	156214933	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:156214933C>T	uc001fnz.1	-	5	907	c.291_splice	c.e5+1	p.R97_splice	PAQR6_uc001fnv.1_Splice_Site_p.R179_splice|PAQR6_uc010phg.1_Splice_Site_p.R200_splice|PAQR6_uc001fnx.1_Splice_Site_p.R97_splice|PAQR6_uc001fnu.1_Splice_Site_p.R203_splice|PAQR6_uc010phf.1_Splice_Site_p.G70_splice|PAQR6_uc001fny.1_Splice_Site|PAQR6_uc010phh.1_Splice_Site_p.R203_splice|PAQR6_uc001foa.1_Splice_Site_p.R97_splice|PAQR6_uc001fob.1_Splice_Site	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN	Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.	203						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCCTCCTTACCCGATAAAAGA	0.612000														36			33		0	0	0.000814825	0	0
XRN1	54464	broad.mit.edu	37	3	142090133	142090133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:142090133G>A	uc003eus.3	-	25	3083	c.3016C>T	c.(3016-3018)Caa>Taa	p.Q1006*	XRN1_uc010huu.3_Nonsense_Mutation_p.Q472*|XRN1_uc003eut.3_Nonsense_Mutation_p.Q1006*|XRN1_uc003euu.3_Nonsense_Mutation_p.Q1006*	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1006					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACATCCTCTTGGCTATTTTTG	0.313000														34			21		0	0	0.00047179	0	0
DNAH7	56171	broad.mit.edu	37	2	196651833	196651833	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:196651833C>T	uc002utj.4	-	57	10880	c.10779G>A	c.(10777-10779)cgG>cgA	p.R3593R	DNAH7_uc002uti.4_Silent_p.R76R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3593	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCAAATTTCCGTCTTTCTT	0.413000														38			26		0	0	0.000878237	0	0
LHFP	10186	broad.mit.edu	37	13	40175225	40175225	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:40175225G>A	uc001uxf.3	-	1	640	c.129C>T	c.(127-129)tcC>tcT	p.S43S		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	43						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGTACCGAAGGACACAGGCT	0.552000			T	HMGA2	lipoma									10			63		0	0	0.000781405	0	0
ZNF93	81931	broad.mit.edu	37	19	20044200	20044200	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:20044200C>T	uc002non.3	+	3	612	c.436C>T	c.(436-438)Caa>Taa	p.Q146*		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	146						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CAAAGTATTTCAATGTGATAA	0.318000														12			23		0	0	0.00229938	0	0
PNPT1	87178	broad.mit.edu	37	2	55921011	55921011	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:55921011G>A	uc002rzf.2	-	1	1	c.-52_splice	c.e1-1			NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.						RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACTCCGCAGACCGTGGGGC	0.667000														5			7		0	0	0.00198382	0	0
WDR75	84128	broad.mit.edu	37	2	190328664	190328664	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:190328664C>T	uc002uql.1	+	10	1150	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	WDR75_uc002uqm.1_Nonsense_Mutation_p.Q300*|WDR75_uc002uqn.1_Nonsense_Mutation_p.Q142*	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	364						nucleolus		p.Q364Q(1)|p.Q364H(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTATTCTCTCCAGAGTGATAA	0.358000														30			26		0	0	0.000720815	0	0
GPR50	9248	broad.mit.edu	37	X	150349230	150349230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:150349230C>T	uc010ntg.2	+	1	1313	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	392	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.R391R(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATTCCAGATCCTCCTCTGCC	0.582000														3			50		0	0	0.000781405	0	0
IL7R	3575	broad.mit.edu	37	5	35875648	35875648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:35875648C>T	uc003jjs.3	+	6	924	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	IL7R_uc011coo.2_Silent_p.I247I|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	279					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTCCCCGATCATAAGAAGAC	0.443000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							33			45		0	0	0.000781405	0	0
HYDIN	54768	broad.mit.edu	37	16	70972627	70972627	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:70972627C>T	uc002ezr.3	-	43	7033	c.6882G>A	c.(6880-6882)gaG>gaA	p.E2294E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2295										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACGCTCCTTCTCTTTCTCAA	0.542000														18			16		0	0	0.00074312	0	0
MYT1	4661	broad.mit.edu	37	20	62830252	62830252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:62830252G>A	uc002yii.3	+	2	402	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	MYT1_uc002yih.3_Missense_Mutation_p.R13Q	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	13					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCTCGCACCCGATCCAAGGCC	0.562000														32			17		0	0	0.000566183	0	0
FCGBP	8857	broad.mit.edu	37	19	40364063	40364063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:40364063C>T	uc002omp.4	-	30	14587	c.14579G>A	c.(14578-14580)gGg>gAg	p.G4860E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4860	VWFD 12.					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)			GTGGATGCCCCCGTTGGCCAG	0.642000														16			20		0	0	0.00188189	0	0
USP17L2	377630	broad.mit.edu	37	8	11994741	11994741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:11994741C>T	uc003wvc.1	-	0	1529	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	510					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCTGGTCCTCCCTTGCAGAGA	0.552000														63			28		0	0	0.00178596	0	0
PGK2	5232	broad.mit.edu	37	6	49754589	49754589	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:49754589C>T	uc003ozu.3	-	0	465	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	104					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.V104L(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGGCTTTCTCCACTTCTGCGC	0.527000														53			47		0	0	0.000781405	0	0
PRB2	653247	broad.mit.edu	37	12	11546165	11546165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:11546165G>A	uc010shk.1	-	2	882	c.847C>T	c.(847-849)Cca>Tca	p.P283S		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGCTTTCCTGGA	0.612000														115			73		0	0	0.000781405	0	0
COLQ	8292	broad.mit.edu	37	3	15498041	15498041	+	Nonsense_Mutation	SNP	G	A	A	rs113708721		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:15498041G>A	uc003bzx.3	-	13	1126	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	COLQ_uc003bzv.3_Nonsense_Mutation_p.Q324*|COLQ_uc010heo.3_Nonsense_Mutation_p.Q300*|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Nonsense_Mutation_p.Q193*	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	334					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATGGCGTTTTGGGTGTTCAGC	0.547000														37			15		0	0	0.000308642	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102038085	102038085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:102038085C>T	uc011kkr.1	+	1	200	c.145C>T	c.(145-147)Cca>Tca	p.P49S	PRKRIP1_uc011kkq.1_Intron|PRKRIP1_uc003uzh.2_Missense_Mutation_p.P49S			Q9H875	PKRI1_HUMAN	Homo sapiens PRKR interacting protein 1 (IL11 inducible) (PRKRIP1), mRNA.	49	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						AGTTCCAATTCCAGAGAAAAT	0.413000														64			33		0	0	0.000814825	0	0
LTA4H	4048	broad.mit.edu	37	12	96396801	96396801	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:96396801A>G	uc001ten.1	-	17	1723	c.1655T>C	c.(1654-1656)aTt>aCt	p.I552T	LTA4H_uc010suy.1_Missense_Mutation_p.I514T|LTA4H_uc010suz.1_Silent_p.N486N|LTA4H_uc010sva.1_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	552					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CGCCAAAGGAATTGCGTCCTC	0.473000														12			7		0	0	0.000274275	0	0
PDGFC	56034	broad.mit.edu	37	4	157771501	157771501	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:157771501C>T	uc003iph.2	-	1	677	c.186G>A	c.(184-186)agG>agA	p.R62R	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	62	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATGAGGAAACCTTGGGCTGT	0.368000														36			21		0	0	0.00229938	0	0
FUT4	2526	broad.mit.edu	37	11	94278312	94278312	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:94278312A>C	uc001pez.3	+	0	1296	c.1013A>C	c.(1012-1014)cAc>cCc	p.H338P	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	338					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCAGAAGCCACCCCGGCGAC	0.672000														16			7		0	0	0.00198382	0	0
HJURP	55355	broad.mit.edu	37	2	234750117	234750117	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:234750117G>A	uc002vvg.3	-	7	1375	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	HJURP_uc010znd.2_Nonsense_Mutation_p.R376*|HJURP_uc010zne.2_Nonsense_Mutation_p.R345*	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	437					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGATCAAATCGGATTTCAATC	0.488000														83			59		0	0	0.000781405	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445217	10445217	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:10445217C>T	uc003gmn.3	-	2	3223	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K	ZNF518B_uc021xme.1_Silent_p.K912K	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGAAGGATCCTTGAGACAGC	0.413000														61			49		0	0	0.000781405	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743947	20743947	+	Silent	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:20743947A>G	uc001ytk.2	-	2	436	c.345T>C	c.(343-345)caT>caC	p.H115H	DQ595648_uc021sey.1_5'Flank	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN	Homo sapiens golgin A6 family-like 6 (GOLGA6L6), mRNA.	115										NS(3)|endometrium(4)|kidney(1)|skin(3)	11						CCTGATGTTGATGGCTTGCCT	0.512000														13			3		0	0	0.00024832	0	0
THBS1	7057	broad.mit.edu	37	15	39882059	39882059	+	Silent	SNP	C	T	T	rs148609363		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:39882059C>T	uc001zkh.3	+	12	2159	c.1980C>T	c.(1978-1980)aaC>aaT	p.N660N	THBS1_uc010bbi.3_Silent_p.N132N	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	660	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAACAAGAACGCCAAGTGCA	0.582000														11			7		0	0	0.000274275	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233946	10233946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:10233946C>T	uc001qxb.3	-	2	365	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CLEC1A_uc001qxd.3_Missense_Mutation_p.G51E|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	94					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGACGTATTTCCTAATCTTTC	0.423000														47			24		0	0	0.00047179	0	0
MYH13	8735	broad.mit.edu	37	17	10224953	10224953	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10224953G>A	uc002gmk.1	-	23	3097	c.3007C>T	c.(3007-3009)Cta>Tta	p.L1003L	MYH13_uc010vve.1_Silent_p.L101L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1003					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTCCTGTAGAGATTTCTTT	0.368000														39			47		0	0	0.00285205	0	0
LRP1B	53353	broad.mit.edu	37	2	141081612	141081612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:141081612C>T	uc002tvj.1	-	80	13336	c.12364G>A	c.(12364-12366)Gat>Aat	p.D4122N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4122					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.I4121I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAAGATATCGATCCTATGT	0.303000										TSP Lung(27;0.18)				56			42		0	0	0.000781405	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374842	113374842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:113374842G>A	uc003eam.3	-	6	6098	c.5687C>T	c.(5686-5688)cCt>cTt	p.P1896L	KIAA2018_uc003eal.3_Missense_Mutation_p.P1840L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1896					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACTTGAAAAAGGAATATTCAA	0.408000														46			36		0	0	0.000692331	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521099	86521099	+	Missense_Mutation	SNP	C	T	T	rs117082571	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:86521099C>T	uc011kha.2	-	20	3156	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	KIAA1324L_uc003uie.3_Missense_Mutation_p.E824K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E877K|KIAA1324L_uc003uif.2_Missense_Mutation_p.E743K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	991						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATACAACTTCCTCTTCATTA	0.378000														31			53		0	0	0.000781405	0	0
ITGB8	3696	broad.mit.edu	37	7	20418903	20418903	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:20418903G>A	uc003suu.3	+	3	1323	c.618G>A	c.(616-618)agG>agA	p.R206R	ITGB8_uc011jyh.2_Silent_p.R71R|ITGB8_uc003sut.3_Silent_p.R206R	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACCCCGAAAGGATTCATAATC	0.338000														24			39		0	0	0.00195071	0	0
OR2M3	127062	broad.mit.edu	37	1	248367254	248367254	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:248367254G>A	uc010pzg.2	+	0	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCGCAACAAGGAGGTGACCA	0.458000														102			38		0	0	0.00111076	0	0
MMP1	4312	broad.mit.edu	37	11	102661492	102661492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:102661492C>T	uc001phi.2	-	8	1385	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.M348I	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	414	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CATGTGCTATCATTTTGGGAT	0.383000														5			99		0	0	0.000781405	0	0
ILDR1	286676	broad.mit.edu	37	3	121712360	121712361	+	Missense_Mutation	DNP	GG	AA	AA	rs144533401		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:121712360_121712361GG>AA	uc003ees.3	-	6	1438_1439	c.1235_1236CC>TT	c.(1234-1236)ccc>cTT	p.P412L	ILDR1_uc003eeq.3_Missense_Mutation_p.P380L|ILDR1_uc003eer.3_Missense_Mutation_p.P368L|ILDR1_uc010hrg.3_Missense_Mutation_p.P323L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	412						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)		ACCAGTGTATGGGTGACCCATT	0.609000														16			13		0	0	6.4e-05	0	0
OR2A12	346525	broad.mit.edu	37	7	143793010	143793010	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:143793010G>A	uc011kty.2	+	0	810	c.810G>A	c.(808-810)agG>agA	p.R270R		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGAACGGAGGAAGATCCTTT	0.527000														234			106		0	0	0.000781405	0	0
OR51B4	79339	broad.mit.edu	37	11	5322770	5322770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:5322770G>A	uc010qza.2	-	0	407	c.407C>T	c.(406-408)tCc>tTc	p.S136F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		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)		CATCACTCGGGAATTGGTAAG	0.448000														6			111		0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41711242	41711242	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:41711242C>T	uc002yyq.1	-	6	1763	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	437	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCACGTGATCGTGGGCAAAG	0.532000														1			23		0	0	0.00229938	0	0
TRDN	10345	broad.mit.edu	37	6	123539823	123539823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:123539823G>A	uc003pzj.2	-	40	2431	c.2113C>T	c.(2113-2115)Cct>Tct	p.P705S	TRDN_uc010kem.2_Missense_Mutation_p.P206S	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	705					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GGAGTGAAAGGAAACTGAAAT	0.458000														13			13		0	0	0.00136819	0	0
RBM17	84991	broad.mit.edu	37	10	6154272	6154272	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:6154272G>A	uc001ijb.3	+	7	1030	c.804G>A	c.(802-804)gaG>gaA	p.E268E	RBM17_uc010qav.2_Silent_p.E268E|RBM17_uc001ijc.3_5'Flank	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	268	G-patch.				RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGTCAGTGGAGAAGACCAGCA	0.622000														3			28		0	0	0.00127121	0	0
PREX2	80243	broad.mit.edu	37	8	69046338	69046338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:69046338C>T	uc003xxv.1	+	31	3838	c.3811C>T	c.(3811-3813)Ctt>Ttt	p.L1271F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1271					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGCCAGACTCTTGTGGCCAC	0.468000														37			36		0	0	0.00128727	0	0
SLFN5	162394	broad.mit.edu	37	17	33592123	33592123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:33592123C>T	uc002hjf.4	+	4	2009	c.1892C>T	c.(1891-1893)aCc>aTc	p.T631I	SLFN5_uc010wcg.2_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	631					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CAGCCAGTGACCCGGAAAACC	0.418000														43			26		0	0	0.000720815	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666219	133666219	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:133666219G>A	uc003eqa.4	-	8	1450	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	SLCO2A1_uc011blv.2_Silent_p.F211F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	392					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CTTGTAGAGAGAAAACAAAGC	0.507000														17			13		0	0	0.00185496	0	0
PDE1C	5137	broad.mit.edu	37	7	32209531	32209531	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:32209531G>A	uc003tco.2	-	2	210	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGAGCCCATCGATGAGGGAGT	0.532000														72			123		0	0	0.000781405	0	0
AMPH	273	broad.mit.edu	37	7	38574543	38574543	+	Silent	SNP	G	A	A	rs140832560	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:38574543G>A	uc003tgu.3	-	1	354	c.138C>T	c.(136-138)ttC>ttT	p.F46F	AMPH_uc003tgv.3_Silent_p.F46F	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	46	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTGCCGTTTGAAGTTCTGGA	0.338000														62			26		0	0	0.001512	0	0
F9	2158	broad.mit.edu	37	X	138630614	138630614	+	Nonsense_Mutation	SNP	C	T	T	rs137852272		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:138630614C>T	uc004fas.1	+	4	513	c.484C>T	c.(484-486)Cga>Tga	p.R162*	F9_uc004fat.1_Nonsense_Mutation_p.R124*	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	162	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGAGGGATATCGACTTGCAGA	0.358000														2			45		0	0	0.000781405	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48802507	48802507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:48802507G>A	uc010hki.1	-	7	1044	c.803C>T	c.(802-804)tCa>tTa	p.S268L	PRKAR2A_uc003cux.1_Missense_Mutation_p.S268L|PRKAR2A_uc003cuy.1_Missense_Mutation_p.S268L	NM_004157	NP_004148	P13861	KAP2_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA.	268					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CATTCGTTCTGACACCTGAAA	0.378000														15			19		0	0	0.00188189	0	0
SPTA1	6708	broad.mit.edu	37	1	158609797	158609797	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:158609797C>T	uc001fst.1	-	34	4937	c.4738_splice	c.e34-1	p.E1580_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1580					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)					TCCAGTTGCTCCTAACCCAAG	0.473000														85			40		0	0	0.00148497	0	0
TMC2	117532	broad.mit.edu	37	20	2593840	2593840	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:2593840G>A	uc002wgf.1	+	14	1759	c.1744_splice	c.e14-1	p.E582_splice	TMC2_uc002wgg.1_Splice_Site_p.E566_splice|TMC2_uc010zpw.1_Splice_Site_p.E414_splice|TMC2_uc010zpx.1_Splice_Site_p.E413_splice	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	582						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTCTGCAGGAATTCATGAG	0.537000														19			10		0	0	0.000673444	0	0
CCR3	1232	broad.mit.edu	37	3	46307124	46307124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:46307124G>A	uc003cpl.2	+	2	1605	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	CCR3_uc003cpg.2_Missense_Mutation_p.G159S|CCR3_uc003cpk.2_Missense_Mutation_p.G180S|CCR3_uc003cpi.2_Missense_Mutation_p.G159S|CCR3_uc010hjb.2_Missense_Mutation_p.G177S|CCR3_uc003cpj.2_Missense_Mutation_p.G159S|CCR3_uc021wwz.1_Missense_Mutation_p.G159S	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	159					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|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)		CGTCACCTGGGGCCTGGCAGT	0.507000														37			30		0	0	0.0024448	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834558	125834558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:125834558G>A	uc001uhe.1	+	1	621	c.613G>A	c.(613-615)Gag>Aag	p.E205K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E95K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	205						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCAGAGGAGGAGATCCCAGC	0.647000														25			18		0	0	0.00121646	0	0
EHMT1	79813	broad.mit.edu	37	9	140728854	140728854	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:140728854C>T	uc011mfc.2	+	25	3631	c.3594C>T	c.(3592-3594)ttC>ttT	p.F1198F	EHMT1_uc004coe.3_Silent_p.F103F	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1198	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCAGCCGGTTCATCAACCACC	0.662000														21			10		0	0	0.000673444	0	0
KIF25	3834	broad.mit.edu	37	6	168445645	168445645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:168445645C>T	uc003qwk.1	+	8	1386	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	KIF25_uc003qwl.1_Missense_Mutation_p.S323F	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	375					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCGCCCAGCTCCCAAACGGAG	0.547000														34			33		0	0	0.00058488	0	0
SALL1	6299	broad.mit.edu	37	16	51173572	51173572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:51173572G>A	uc021tif.1	-	1	2592	c.2270C>T	c.(2269-2271)tCg>tTg	p.S757L	SALL1_uc021tid.1_Missense_Mutation_p.S757L|SALL1_uc021tie.1_Missense_Mutation_p.S854L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	854					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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin 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)			GGGCAAAGGCGAAGAGGATAA	0.517000														47			50		0	0	0.000781405	0	0
TSC2	7249	broad.mit.edu	37	16	2138456	2138456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:2138456G>A	uc002con.3	+	41	5375	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.E1734K|TSC2_uc002coo.3_Missense_Mutation_p.E1690K|TSC2_uc010uvv.2_Missense_Mutation_p.E1654K|TSC2_uc010uvw.2_Missense_Mutation_p.E1642K|TSC2_uc002cop.3_Missense_Mutation_p.E1513K|TSC2_uc002coq.3_Missense_Mutation_p.E532K	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1757	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GATCTGCGAGGAAGCCGCCTA	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					60			20		0	0	0.000586117	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248469	14248469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:14248469G>A	uc002goh.1	+	1	1009	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 (HS3ST3B1), mRNA.	227					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CATCGTGGTGGTGCGGGACCC	0.627000														8			13		0	0	0.00121646	0	0
CDH9	1007	broad.mit.edu	37	5	26885885	26885885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:26885885C>T	uc003jgs.1	-	10	1889	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	CDH9_uc011cnv.1_Missense_Mutation_p.D167N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	574	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGGATAATCGTTGTCAAAG	0.453000														29			16		0	0	0.000308642	0	0
FAM193A	8603	broad.mit.edu	37	4	2661700	2661700	+	Missense_Mutation	SNP	C	T	T	rs140213757		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:2661700C>T	uc010ick.3	+	8	1392	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	FAM193A_uc003gfd.3_Missense_Mutation_p.S264L|FAM193A_uc011bvm.2_Missense_Mutation_p.S288L|FAM193A_uc011bvn.2_Missense_Mutation_p.S264L|FAM193A_uc010icl.3_Missense_Mutation_p.S264L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.S118L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	264								p.V464A(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TCTGCAAGCTCGGGGTCCGGC	0.547000														24			13		0	0	0.00185496	0	0
SDK1	221935	broad.mit.edu	37	7	4056966	4056966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:4056966G>A	uc003smx.3	+	16	2723	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	SDK1_uc010kso.3_Missense_Mutation_p.E138K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	862	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCAGTGACCGAGTACACCTT	0.562000														32			22		0	0	0.000720815	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711294	40711294	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:40711294C>A	uc011aor.2	+	19	4897	c.4686C>A	c.(4684-4686)ttC>ttA	p.F1562L	TNRC6B_uc003aym.3_Missense_Mutation_p.F758L|TNRC6B_uc003ayn.4_Missense_Mutation_p.F1452L|TNRC6B_uc003ayo.3_Missense_Mutation_p.F1309L	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1562					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CAGCAAAGTTCCCTGATTACA	0.383000														23			19		7.41877e-09	2.55393e-08	0.00188189	1	0
F13A1	2162	broad.mit.edu	37	6	6174883	6174883	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:6174883G>A	uc003mwv.3	-	11	1800	c.1677C>T	c.(1675-1677)acC>acT	p.T559T	F13A1_uc011dib.2_Silent_p.T496T	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	559					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGGTGTAGAAGGTGATGTTGG	0.502000														62			38		0	0	0.000814825	0	0
TRAP1	10131	broad.mit.edu	37	16	3714414	3714414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:3714414G>A	uc002cvt.4	-	12	1519	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	TRAP1_uc002cvs.3_Missense_Mutation_p.S268F|TRAP1_uc010uxf.2_Missense_Mutation_p.S424F|BC095475_uc002cvu.3_Non-coding_Transcript	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	477					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TAGCTGCCCGGAGGGCAGCGC	0.632000														16			7		0	0	0.000157383	0	0
GLT25D1	79709	broad.mit.edu	37	19	17692028	17692028	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:17692028C>T	uc002nhc.1	+	11	1656	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A		NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	548					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						ACCTGCATGCCTTCTCTGTGG	0.602000														93			94		0	0	0.000781405	0	0
JUN	3725	broad.mit.edu	37	1	59248633	59248633	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:59248633C>A	uc001cze.3	-	0	1153	c.110G>T	c.(109-111)aGc>aTc	p.S37I	LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	Homo sapiens jun proto-oncogene (JUN), mRNA.	37					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein import into nucleus|SMAD protein signal transduction|Toll signaling pathway|innate immune response|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CAGGGTCATGCTCTGTTTCAG	0.607000			A		sarcoma									61			55		1.95512e-22	6.78253e-22	0.000781405	1	0
STXBP5L	9515	broad.mit.edu	37	3	120941960	120941960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:120941960C>T	uc003eec.4	+	10	1207	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	STXBP5L_uc011bji.2_Missense_Mutation_p.P356L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	356					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATGGATCATCCTATTGTTGAA	0.328000														42			36		0	0	0.00111076	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:24259437C>T	uc003xdz.2	+	11	1372	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ADAMDEC1_uc010lub.2_Silent_p.F305F|ADAMDEC1_uc011lab.1_Silent_p.F305F	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	384	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GTTCAAAATTCCCAAAGGATT	0.363000														32			22		0	0	0.000720815	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734201	16734201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrY:16734201G>A	uc011nas.1	+	1	381	c.202G>A	c.(202-204)Ggt>Agt	p.G68S	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.G68S|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.G68S|NLGN4Y_uc004fti.4_Missense_Mutation_p.G68S	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	68					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TGAGATCTTGGGTCCAGTGGA	0.527000														1			41		0	0	0.00148497	0	0
MNDA	4332	broad.mit.edu	37	1	158817534	158817534	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:158817534A>G	uc001fsz.1	+	5	1204	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	335	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K335N(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GTACACAAGAAGAACACAATT	0.363000														58			29		0	0	0.00209593	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165160	87165160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:87165160C>T	uc003ydp.1	+	7	1076	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	336					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GAATGTATTTCACAGAGGCAT	0.333000														32			25		0	0	0.00278032	0	0
SEMG2	6407	broad.mit.edu	37	20	43851480	43851480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:43851480G>A	uc010ggz.3	+	1	1264	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	SEMG2_uc002xnk.3_Missense_Mutation_p.E403K|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	403	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGCCATAAGGAAAATAAAAT	0.383000														26			22		0	0	0.00229938	0	0
CFTR	1080	broad.mit.edu	37	7	117180348	117180348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:117180348C>T	uc003vjd.3	+	7	1196	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	355	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.P355S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CGGCAATTTCCCTGGGCTGTA	0.403000									Cystic Fibrosis					90			43		0	0	0.000781405	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374888	6374888	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:6374888C>T	uc002meo.2	+	3	958	c.570C>T	c.(568-570)cgC>cgT	p.R190R		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	Homo sapiens alkB, alkylation repair homolog 7 (E. coli) (ALKBH7), mRNA.	190						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGGGGAACGCCGGATTCCCC	0.647000														23			24		0	0	0.000586117	0	0
DNAH8	1769	broad.mit.edu	37	6	38980370	38980370	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:38980370G>A	uc021yzh.1	+	90	13780	c.13671G>A	c.(13669-13671)ggG>ggA	p.G4557G	DNAH8_uc003ooe.2_Silent_p.G4340G	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTTGAAGGGAGGCCTAATG	0.428000														103			72		0	0	0.000781405	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886268	144886268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:144886268G>A	uc021ouh.1	-	22	3268	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S989F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1055F|PDE4DIP_uc001elv.4_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	989					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAAGGAGGGGAAAAAGATGG	0.473000			T	PDGFRB	MPD									275			75		0	0	0.000781405	0	0
SPEN	23013	broad.mit.edu	37	1	16255330	16255330	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:16255330G>A	uc001axk.1	+	10	2799	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	SPEN_uc010obp.1_Silent_p.E824E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	865					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.E865Q(1)		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)		CTGACAAAGAGGGAATAGCGA	0.468000														45			35		0	0	0.00058488	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958112	119958112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:119958112G>A	uc001ehs.3	+	0	843	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	HSD3B2_uc021ost.1_Missense_Mutation_p.E24K|HSD3B2_uc001eht.3_Missense_Mutation_p.E24K|HSD3B2_uc001ehu.3_Missense_Mutation_p.E24K	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	24					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)	CCTGTTGGTGGAAGAGAAGGA	0.517000														43			37		0	0	0.000953801	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:33560122C>T	uc001rll.1	-	2	976	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_uc009zju.1_Missense_Mutation_p.E37K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	227						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGACATCTTCGTTTTGGTTG	0.383000														46			22		0	0	0.00229938	0	0
MYCT1	80177	broad.mit.edu	37	6	153043010	153043010	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:153043010G>A	uc003qpc.4	+	1	338	c.330G>A	c.(328-330)agG>agA	p.R110R		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	110						nucleus		p.R110R(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GTTCAAGCAGGAGATCTAGGT	0.517000														54			39		0	0	0.00170553	0	0
EFTUD1	79631	broad.mit.edu	37	15	82517553	82517553	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:82517553G>A	uc002bgt.1	-	11	1414	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	EFTUD1_uc002bgu.1_Silent_p.S364S	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	415					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAACATTTTGGAAACAAATA	0.378000														56			5		0	0	0.000157383	0	0
NOL8	55035	broad.mit.edu	37	9	95062242	95062242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:95062242G>A	uc022bjx.1	-	13	3569	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.R1010C	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	1078					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTGTAAACGAGGGTCTTCC	0.413000														140			116		0	0	0.000781405	0	0
NOVA1	4857	broad.mit.edu	37	14	26917477	26917477	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:26917477G>A	uc001wqa.3	-	5	1632	c.846C>T	c.(844-846)ccC>ccT	p.P282P	NOVA1_uc001wpy.3_Silent_p.P404P|NOVA1_uc001wpz.3_Silent_p.P380P	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	407	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGCAGCTAGGGGAGAAGCAG	0.502000														3			23		0	0	0.00106085	0	0
ZNF600	162966	broad.mit.edu	37	19	53269306	53269306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:53269306G>A	uc002qab.4	-	2	1989	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	ZNF600_uc021uyz.1_Missense_Mutation_p.S568F	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTGAACAAGGGATGGCTTGTG	0.438000														84			63		0	0	0.000781405	0	0
CLMP	79827	broad.mit.edu	37	11	122955333	122955333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:122955333C>T	uc001pyt.3	-	2	634	c.275G>A	c.(274-276)gGa>gAa	p.G92E		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	92	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GGAGGCATCTCCTGCCAGGAA	0.512000														2			49		0	0	0.000781405	0	0
FOLR4	390243	broad.mit.edu	37	11	94040458	94040458	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:94040458G>A	uc021qou.1	+	2	476	c.476G>A	c.(475-477)tGg>tAg	p.W159*		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	159						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GGCTGGGACTGGAGTCAGGGT	0.587000														1			17		0	0	0.00121646	0	0
LPHN3	23284	broad.mit.edu	37	4	62849229	62849229	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:62849229G>A	uc010ihh.3	+	15	3113	c.2940G>A	c.(2938-2940)agG>agA	p.R980R	LPHN3_uc003hcq.4_Silent_p.R980R|LPHN3_uc003hct.3_Silent_p.R373R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	967					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTCACGTAGGAAATACTTTT	0.453000														90			60		0	0	0.000781405	0	0
CNTN4	152330	broad.mit.edu	37	3	2967440	2967440	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:2967440G>A	uc003bpc.3	+	12	1674	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	CNTN4_uc003bpb.1_Silent_p.R117R|CNTN4_uc021wsg.1_Silent_p.R445R|CNTN4_uc003bpd.1_Silent_p.R445R|CNTN4_uc003bpe.3_Silent_p.R117R|CNTN4_uc003bpf.3_Silent_p.R117R	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	445	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P444S(1)|p.P444T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAGGAAGGGATATATTAA	0.343000														52			48		0	0	0.000781405	0	0
OR2M3	127062	broad.mit.edu	37	1	248366576	248366576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:248366576G>A	uc010pzg.2	+	0	207	c.207G>A	c.(205-207)atG>atA	p.M69I		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L68L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTCCCTCATGGACCTCATGC	0.532000														237			98		0	0	0.000781405	0	0
SF3B2	10992	broad.mit.edu	37	11	65826341	65826342	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:65826341_65826342CC>TT	uc001ogy.1	+	9	1047_1048	c.1007_1008CC>TT	c.(1006-1008)ccc>cTT	p.P336L		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	336					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AAGAAAAAGCCCCAGCGGGTGC	0.569000														24			14		0	0	6.4e-05	0	0
CNTN3	5067	broad.mit.edu	37	3	74334516	74334517	+	Missense_Mutation	DNP	AA	GC	GC			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:74334516_74334517AA>GC	uc003dpm.1	-	18	2723_2724	c.2643_2644TT>GC	c.(2641-2646)gcttac>gcGCac	p.Y882H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	882	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCACTGTTGTAAGCCCGGACAG	0.485000														98			56		0	0	6.4e-05	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389314	76389314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:76389314G>A	uc002fex.1	+	1	444	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G98E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G11E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G74E|CNTNAP4_uc002few.2_Missense_Mutation_p.G74E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	99	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G74E(2)|p.G98E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTCAAGGGGGATATGGTAGC	0.522000														36			33		0	0	0.000692331	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001148	121001148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:121001148C>T	uc003eec.4	+	19	2286	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	STXBP5L_uc011bji.2_Intron	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	716					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACTTTTATCCTGATTTAAC	0.388000														23			26		0	0	0.00106085	0	0
TESK2	10420	broad.mit.edu	37	1	45923403	45923403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:45923403G>A	uc001cns.1	-	1	458	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	TESK2_uc009vxr.1_Missense_Mutation_p.L19F|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.L19F	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	19					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AACTCTTCAAGACGCTCCACA	0.448000														46			37		0	0	0.00222228	0	0
ATF5	22809	broad.mit.edu	37	19	50435745	50435745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:50435745C>T	uc010enq.2	+	3	827	c.245C>T	c.(244-246)cCc>cTc	p.P82L	IL4I1_uc021uxy.1_5'Flank|IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002prb.3_5'Flank|NUP62_uc002pqx.3_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Missense_Mutation_p.P82L|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	82					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTGGAGCCTCCCTTACCCCCC	0.572000														14			16		0	0	0.000422831	0	0
CHD9	80205	broad.mit.edu	37	16	53340242	53340242	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:53340242A>G	uc002ehb.3	+	30	6877	c.6713A>G	c.(6712-6714)aAt>aGt	p.N2238S	CHD9_uc002egy.3_Missense_Mutation_p.N2238S|CHD9_uc002ehc.3_Missense_Mutation_p.N2239S|CHD9_uc002ehf.3_Missense_Mutation_p.N1352S|CHD9_uc002ehg.2_Missense_Mutation_p.N1353S|CHD9_uc010cbw.3_Missense_Mutation_p.N304S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2238					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGATGAACAATGGGACACCA	0.423000														29			21		0	0	0.00278032	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:40944419G>A	uc002xkg.3	-	11	2267	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_uc010ggj.3_Missense_Mutation_p.L695F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	695	Fibronectin type-III 4.				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	p.L695L(1)		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)				AGGGGAGAGAGAGGAGGGTTC	0.498000														43			26		0	0	0.000720815	0	0
TMEM144	55314	broad.mit.edu	37	4	159136446	159136447	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:159136446_159136447GG>AA	uc003ipx.3	+	3	733_734	c.213_214GG>AA	c.(211-216)gggggc>ggAAgc	p.G72S	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	72						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CAATGCTTGGGGGCTGCATTTG	0.381000														28			40		0	0	6.4e-05	0	0
LAG3	3902	broad.mit.edu	37	12	6886466	6886466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:6886466G>A	uc001qqt.4	+	5	1443	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	LAG3_uc001qqu.3_Missense_Mutation_p.G195E	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	365	Ig-like C2-type 3.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCCTGGGGAAGCTGCTT	0.517000														61			61		0	0	0.000781405	0	0
CYP2F1	1572	broad.mit.edu	37	19	41630675	41630675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:41630675C>T	uc002opu.1	+	7	1072	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	CYP2F1_uc010xvv.1_Missense_Mutation_p.R320C|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	339					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGGCTGCCGGCGCTGAAGGAC	0.677000														11			13		0	0	0.000566183	0	0
FLG2	388698	broad.mit.edu	37	1	152329048	152329048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:152329048G>A	uc001ezw.4	-	2	1287	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	405	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAAGAGTTTGAAAAGCGGCC	0.433000														46			34		0	0	0.00058488	0	0
IGSF10	285313	broad.mit.edu	37	3	151165605	151165605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:151165605G>A	uc011bod.2	-	3	2164	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	722					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTAATTCCCGATAGTTGTGC	0.493000														27			24		0	0	0.000720815	0	0
LEPREL1	55214	broad.mit.edu	37	3	189689789	189689789	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:189689789C>T	uc011bsk.2	-	11	2095	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	LEPREL1_uc003fsg.3_Silent_p.Q388Q	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	569	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCTTCTATCCTGCTGACCTG	0.473000														17			9		0	0	0.000978159	0	0
PDE4B	5142	broad.mit.edu	37	1	66379000	66379000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:66379000G>A	uc001dcn.3	+	1	194	c.3G>A	c.(1-3)atG>atA	p.M1I	PDE4B_uc009war.3_5'UTR|PDE4B_uc001dco.3_Missense_Mutation_p.M1I	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	1					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCTCTATAATGAAGAAAAGCA	0.368000														36			23		0	0	0.000720815	0	0
TDRD1	56165	broad.mit.edu	37	10	115963267	115963267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:115963267G>A	uc001lbg.1	+	7	1075	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	TDRD1_uc001lbf.3_Missense_Mutation_p.E299K|TDRD1_uc001lbh.1_Missense_Mutation_p.E299K|TDRD1_uc001lbi.1_Missense_Mutation_p.E299K|TDRD1_uc010qsc.2_Missense_Mutation_p.E17K|TDRD1_uc001lbj.3_Missense_Mutation_p.E17K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	308					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAATGTGCATGAAAAAGACTA	0.363000														1			27		0	0	0.001512	0	0
SMC2	10592	broad.mit.edu	37	9	106901545	106901545	+	Silent	SNP	G	A	A	rs144844202		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:106901545G>A	uc004bbv.3	+	24	3831	c.3543G>A	c.(3541-3543)aaG>aaA	p.K1181K	SMC2_uc004bbw.3_Silent_p.K1181K|SMC2_uc011lvl.2_Silent_p.K1181K|SMC2_uc004bbx.3_Silent_p.K1181K|SMC2_uc004bby.3_Non-coding_Transcript	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	1181					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGATTTCAAAGGAAGCAAAAT	0.343000														35			18		0	0	0.00152264	0	0
MYH1	4619	broad.mit.edu	37	17	10400471	10400471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10400471C>T	uc002gmo.3	-	32	4665	c.4571G>A	c.(4570-4572)gGa>gAa	p.G1524E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1524						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGCGCTTTCCTCCTTCTGC	0.368000														43			24		0	0	0.00278032	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812857	45812857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:45812857C>T	uc011bai.2	-	5	911	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.A226T	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	263					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TTGTAGCTGGCGAAGGCGATC	0.552000														43			41		0	0	0.00148497	0	0
REN	5972	broad.mit.edu	37	1	204125360	204125360	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:204125360G>A	uc001haq.2	-	7	950	c.906C>T	c.(904-906)acC>acT	p.T302T		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	302					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTATGGAGCTGGTAGAACCTG	0.582000														149			85		0	0	0.000781405	0	0
TMEM74	157753	broad.mit.edu	37	8	109797321	109797321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:109797321G>A	uc003ymy.1	-	1	112	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.L3F	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	3					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AGGTAGTGGAGCTCCATGAGA	0.527000														19			19		0	0	0.00152264	0	0
OR5B12	390191	broad.mit.edu	37	11	58206830	58206830	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:58206830G>A	uc010rkh.2	-	0	817	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGCCCATGAAATGGCTGG	0.453000														2			38		0	0	0.00170553	0	0
DNAH5	1767	broad.mit.edu	37	5	13901400	13901400	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:13901400C>T	uc003jfd.2	-	13	2055	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	671	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCAAACTCCAGGAGGACCT	0.517000									Kartagener syndrome					26			41		0	0	0.000680045	0	0
LILRB2	10288	broad.mit.edu	37	19	54779825	54779825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:54779825C>T	uc002qfb.3	-	12	1896	c.1630G>A	c.(1630-1632)Ggg>Agg	p.G544R	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.G543R|LILRB2_uc010yet.2_Missense_Mutation_p.G428R	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	544					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTCCACCCCATCTTCAGGC	0.617000														67			69		0	0	0.000781405	0	0
SCN3A	6328	broad.mit.edu	37	2	165997165	165997165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:165997165G>A	uc002ucx.3	-	12	2507	c.2015C>T	c.(2014-2016)cCa>cTa	p.P672L	SCN3A_uc002ucy.3_Intron|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P671P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TATCACCTCTGGGGGAAGTTG	0.478000														16			11		0	0	0.00136819	0	0
FAM113A	64773	broad.mit.edu	37	20	2816131	2816132	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:2816131_2816132GG>AA	uc002wgz.1	-	7	1838_1839	c.1341_1342CC>TT	c.(1339-1344)gcccat>gcTTat	p.H448Y	FAM113A_uc010zqa.1_Missense_Mutation_p.H295Y|FAM113A_uc002whc.1_Missense_Mutation_p.H397Y	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	448							hydrolase activity|protein binding	p.H448L(1)		breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						GTCCCCGAATGGGCAGGAGGCC	0.624000														26			12		0	0	6.4e-05	0	0
OSMR	9180	broad.mit.edu	37	5	38886151	38886151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:38886151G>A	uc003jln.2	+	6	1252	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	OSMR_uc003jlm.2_Missense_Mutation_p.E284K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	284					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTTTCTGGGGAAAAGAAACT	0.338000														41			19		0	0	0.00121646	0	0
FAT3	120114	broad.mit.edu	37	11	92085877	92085877	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:92085877A>G	uc001pdj.4	+	0	616	c.599A>G	c.(598-600)aAa>aGa	p.K200R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	200	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTAAAAATAAAGTTGATCTC	0.393000										TCGA Ovarian(4;0.039)				26			509		0	0	0.000781405	0	0
FAM47A	158724	broad.mit.edu	37	X	34150008	34150008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:34150008G>A	uc004ddg.3	-	0	440	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	130										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGGCCAAGGGATGCTTGGCC	0.557000														3			49		0	0	0.000781405	0	0
ETS2	2114	broad.mit.edu	37	21	40190402	40190402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:40190402G>A	uc002yxf.3	+	7	1103	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	ETS2_uc002yxg.3_Missense_Mutation_p.G215S	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	215					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTACCCCAAAGGCGGCCTCCT	0.562000														7			65		0	0	0.000781405	0	0
CYP2F1	1572	broad.mit.edu	37	19	41627421	41627421	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:41627421C>T	uc002opu.1	+	4	599	c.543C>T	c.(541-543)tcC>tcT	p.S181S	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Silent_p.S181S|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	181					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TTATCTGTTCCGTGCTCTTCG	0.542000														86			77		0	0	0.000781405	0	0
COL6A6	131873	broad.mit.edu	37	3	130285721	130285721	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:130285721G>A	uc010htl.3	+	3	1489	c.1458G>A	c.(1456-1458)ttG>ttA	p.L486L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	486	Nonhelical region.|VWFA 3.				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						GCTGGGACTTGGAATTTGAGA	0.483000														56			61		0	0	0.000781405	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719781	111719781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:111719781G>A	uc003dym.3	+	2	721	c.343G>A	c.(343-345)Gat>Aat	p.D115N	TAGLN3_uc003dyl.3_Missense_Mutation_p.D115N|TAGLN3_uc003dyn.3_Missense_Mutation_p.D115N|TAGLN3_uc003dyo.3_Missense_Mutation_p.D115N	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	115	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TCAGACGGTGGATCTATGGGA	0.478000														91			54		0	0	0.000781405	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066929	18066929	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:18066929G>A	uc003stz.3	-	0	558	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	159					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCACTCAGGGATATTCTCCC	0.453000														72			31		0	0	0.00283554	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16941773	16941773	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrY:16941773G>A	uc011nas.1	+	5	1214	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	NLGN4Y_uc004fte.2_Silent_p.E157E|NLGN4Y_uc004ftg.2_Silent_p.E325E|NLGN4Y_uc004ftf.2_Silent_p.E18E|NLGN4Y_uc004fth.2_Silent_p.E325E	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	325					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ACTACAAGGAGCTCATCCAGC	0.572000														0			32		0	0	0.0024448	0	0
UNC13C	440279	broad.mit.edu	37	15	54556559	54556559	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:54556559G>A	uc021smr.1	+	6	3636	c.3636G>A	c.(3634-3636)ggG>ggA	p.G1212G	UNC13C_uc021sms.1_Silent_p.G1214G|UNC13C_uc002acl.3_Silent_p.G44G	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1214	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TACTGGATGGGACATCTAAGT	0.343000														6			4		0	0	0.00024832	0	0
UBE2O	63893	broad.mit.edu	37	17	74392229	74392229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:74392229G>A	uc002jrm.4	-	13	2854	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	UBE2O_uc002jrn.4_Missense_Mutation_p.S930F|UBE2O_uc002jrl.4_Missense_Mutation_p.S534F	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	930							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTCCAGTACGGAGAAGACCTC	0.642000														16			13		0	0	0.000308642	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509972	41509972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:41509972G>A	uc002opr.1	+	1	245	c.238G>A	c.(238-240)Gga>Aga	p.G80R	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.G40R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	80					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CATGCTGTGTGGAGTAGAGGC	0.582000														46			31		0	0	0.000814825	0	0
OR2T10	127069	broad.mit.edu	37	1	248756492	248756492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:248756492G>A	uc010pzn.2	-	0	578	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	193					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)			CTTGTAAAGTGAGGTGTCTGA	0.463000														48			29		0	0	0.00106085	0	0
C10orf12	26148	broad.mit.edu	37	10	98743303	98743303	+	Missense_Mutation	SNP	C	T	T	rs142303354	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:98743303C>T	uc001kmv.3	+	0	2263	c.2156C>T	c.(2155-2157)tCg>tTg	p.S719L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	719										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCACCAAAATCGGTGCCAAGG	0.483000														3			27		0	0	0.00127121	0	0
C10orf71	118461	broad.mit.edu	37	10	50531036	50531036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:50531036C>T	uc021pqb.1	+	0	446	c.446C>T	c.(445-447)tCt>tTt	p.S149F	C10orf71_uc021pqa.1_Missense_Mutation_p.S148F|C10orf71_uc021pqc.1_Missense_Mutation_p.S149F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	149										endometrium(1)	1						CTAATTAAATCTTTCGACAGG	0.537000														2			25		0	0	0.00278032	0	0
JAK1	3716	broad.mit.edu	37	1	65305330	65305330	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:65305330T>A	uc001dbu.1	-	19	3047	c.2798A>T	c.(2797-2799)tAt>tTt	p.Y933F	JAK1_uc009wam.1_Missense_Mutation_p.Y933F|JAK1_uc009wal.1_Missense_Mutation_p.Y110F	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	933	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.L932R(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTTCTCATGATAGAGGTTCCT	0.443000			Mis		ALL									69			45		0	0	0.000781405	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933708	209933708	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:209933708G>A	uc001hho.3	+	2	744	c.324G>A	c.(322-324)agG>agA	p.R108R	TRAF3IP3_uc001hhm.2_Silent_p.R108R|TRAF3IP3_uc001hhn.3_Intron|TRAF3IP3_uc009xcr.3_Silent_p.R108R	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	108						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GTGCCAGAAGGATTTCTTCTC	0.612000														10			7		0	0	0.000274275	0	0
DOCK3	1795	broad.mit.edu	37	3	51267025	51267025	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:51267025G>A	uc011bds.2	+	18	1925	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	634	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATGTCAGTGGGGAGGAAATTG	0.463000														22			17		0	0	0.000958276	0	0
PBLD	64081	broad.mit.edu	37	10	70056087	70056087	+	Silent	SNP	C	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:70056087C>A	uc001jns.1	-	3	422	c.219G>T	c.(217-219)gcG>gcT	p.A73A	PBLD_uc001jnr.1_Silent_p.A40A|PBLD_uc001jnt.1_Silent_p.A73A|PBLD_uc001jnu.1_Silent_p.A73A|PBLD_uc001jnv.1_Intron	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	73					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGACCTCACTCGCTGGTGTAA	0.453000														2			15		8.00594e-06	2.7508e-05	0.000958276	1	0
PTPRC	5788	broad.mit.edu	37	1	198685878	198685878	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:198685878G>A	uc001gur.1	+	12	1533	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_uc001gut.1_Silent_p.T290T|PTPRC_uc009wzf.1_Silent_p.T339T|PTPRC_uc021pgy.1_Silent_p.T405T|PTPRC_uc010ppg.1_Silent_p.T387T	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	451	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTTATACGAAATATGTTT	0.308000														68			21		0	0	0.00152264	0	0
IFNA17	3451	broad.mit.edu	37	9	21227840	21227840	+	Silent	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:21227840T>C	uc003zos.1	-	0	382	c.333A>G	c.(331-333)gaA>gaG	p.E111E	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	Homo sapiens interferon, alpha 17 (IFNA17), mRNA.	111					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GCTGGTAAAGTTCAGTGGAAA	0.488000														14			55		0	0	0.000781405	0	0
LGI2	55203	broad.mit.edu	37	4	25030187	25030187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:25030187C>T	uc003grf.2	-	1	310	c.211G>A	c.(211-213)Ggg>Agg	p.G71R		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	71						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GAAAACGTCCCATTTACCAGG	0.507000														13			4		0	0	0.00024832	0	0
GALT	2592	broad.mit.edu	37	9	34648802	34648802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:34648802C>T	uc003zve.3	+	7	798	c.731C>T	c.(730-732)cCc>cTc	p.P244L	GALT_uc003zvf.3_Missense_Mutation_p.P135L|GALT_uc011lop.1_Missense_Mutation_p.P196L|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	244					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GTACTGGTCCCCTTCTGGGCA	0.582000									Galactosemia					7			65		0	0	0.000781405	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525475	38525475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:38525475G>A	uc003auy.1	-	7	1308	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	PLA2G6_uc003auz.1_Missense_Mutation_p.S391F|PLA2G6_uc003ava.1_Missense_Mutation_p.S391F|PLA2G6_uc003avb.2_Missense_Mutation_p.S391F|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.S356F	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	391					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCCGATTTTGGAGGCTAGGAA	0.567000														31			23		0	0	0.00047179	0	0
MXRA5	25878	broad.mit.edu	37	X	3261695	3261695	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:3261695G>A	uc004crg.4	-	1	337	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	60						extracellular region		p.I60M(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCCCAAATTGATTCTTTCCA	0.532000														1			14		0	0	0.000422831	0	0
FAM135B	51059	broad.mit.edu	37	8	139144881	139144881	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:139144881G>A	uc003yuy.3	-	19	4347	c.4176C>T	c.(4174-4176)ttC>ttT	p.F1392F	FAM135B_uc003yux.3_Silent_p.F1293F|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1392								p.F1392S(2)		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)			ACTTCTCCAGGAAGAGTTCTG	0.527000										HNSCC(54;0.14)				112			85		0	0	0.000781405	0	0
STAT4	6775	broad.mit.edu	37	2	191931173	191931173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:191931173G>A	uc002usm.2	-	6	928	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	STAT4_uc002usn.2_Missense_Mutation_p.L205F|STAT4_uc010zgk.1_Missense_Mutation_p.L50F|STAT4_uc002uso.2_Missense_Mutation_p.L205F	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	205					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTGAAATCGAGGCTGTTAAGC	0.358000														14			18		0	0	0.00152264	0	0
FMN2	56776	broad.mit.edu	37	1	240371827	240371827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:240371827C>T	uc010pye.2	+	5	3952	c.3727C>T	c.(3727-3729)Cct>Tct	p.P1243S	FMN2_uc010pyd.2_Missense_Mutation_p.P1239S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1239	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTGCTTCCTGTATCAGG	0.592000														21			4		0	0	0.00024832	0	0
CHRM2	1129	broad.mit.edu	37	7	136700761	136700761	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:136700761G>A	uc003vtf.1	+	3	1772	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	CHRM2_uc003vtg.1_Silent_p.K383K|CHRM2_uc003vti.1_Silent_p.K383K|CHRM2_uc003vtm.1_Silent_p.K383K|CHRM2_uc003vtj.1_Silent_p.K383K|CHRM2_uc003vtk.1_Silent_p.K383K|CHRM2_uc003vtl.1_Silent_p.K383K|CHRM2_uc003vtn.1_Silent_p.K383K|CHRM2_uc003vto.1_Silent_p.K383K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.K383K	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	383					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCCGGGAAAAGAAAGTCACCA	0.458000														41			74		0	0	0.000781405	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:39604026C>T	uc003xnj.3	-	18	2214	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000														80			45		0	0	0.000781405	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														15			21		0	0	0.00121646	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149795658	149795658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:149795658C>T	uc010kid.3	-	1	292	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	ZC3H12D_uc003qmn.1_Missense_Mutation_p.E8K	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	8						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGGAAGAATTCCATCTTGCTG	0.622000														7			7		0	0	0.000274275	0	0
HSD17B6	8630	broad.mit.edu	37	12	57167947	57167947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:57167947G>A	uc001smg.1	+	1	421	c.311G>A	c.(310-312)aGa>aAa	p.R104K		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	104					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GTGGGGGACAGAGGTATGAAA	0.478000														23			14		0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9026203	9026203	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:9026203G>A	uc002mkp.3	-	13	36987	c.36783C>T	c.(36781-36783)gtC>gtT	p.V12261V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12263	SEA 2.				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						GACCCTGCAGGACACTCTCCA	0.542000														84			64		0	0	0.000781405	0	0
FLT4	2324	broad.mit.edu	37	5	180043405	180043405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:180043405C>T	uc003mlz.4	-	22	3260	c.3181G>A	c.(3181-3183)Gac>Aac	p.D1061N	FLT4_uc003mma.4_Missense_Mutation_p.D1061N	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1061	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAGATGTCCCGGGCAAGG	0.607000														0			24		0	0	0.000586117	0	0
DNAH10	196385	broad.mit.edu	37	12	124383306	124383306	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:124383306G>A	uc001uft.4	+	54	9256	c.9231G>A	c.(9229-9231)gaG>gaA	p.E3077E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3077	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCTGGCGGAGAAGTCCGCCG	0.642000														7			5		0	0	0.000602214	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618713	37618713	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:37618713C>T	uc002yvg.3	+	18	4514	c.4435C>T	c.(4435-4437)Cag>Tag	p.Q1479*	DOPEY2_uc011aeb.2_Nonsense_Mutation_p.Q1428*|DOPEY2_uc002yvh.3_Nonsense_Mutation_p.Q330*	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1479					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGAACTTCCAGCAGGCCAT	0.662000														1			9		0	0	0.000274275	0	0
STL	7955	broad.mit.edu	37	6	125232280	125232280	+	RNA	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:125232280C>T	uc003pzq.3	-	6		c.2454G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		TTTCCTGAACCTTTGCTCCTG	0.343000			T	ETV6	B-ALL									6			9		0	0	0.000274275	0	0
EIF4G1	1981	broad.mit.edu	37	3	184052517	184052517	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:184052517C>T	uc003fnp.3	+	32	4892	c.4621C>T	c.(4621-4623)Ctg>Ttg	p.L1541L	EIF4G1_uc010hxx.3_Silent_p.L1548L|EIF4G1_uc003fnt.3_Silent_p.L1252L|EIF4G1_uc010hxy.3_Silent_p.L1548L|EIF4G1_uc003fnq.3_Silent_p.L1454L|EIF4G1_uc003fnr.3_Silent_p.L1377L|EIF4G1_uc003fns.3_Silent_p.L1501L|EIF4G1_uc003fnv.4_Silent_p.L1542L|EIF4G1_uc003fnw.3_Silent_p.L1548L|EIF4G1_uc003fnx.3_Silent_p.L1346L|FAM131A_uc003foc.3_5'Flank|FAM131A_uc003fod.2_5'Flank|FAM131A_uc003foe.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1541	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTTGCAGACCTGCTGCGGAT	0.602000														16			20		0	0	0.00278032	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680538	9680538	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:9680538C>T	uc010vvb.2	-	3	559	c.546G>A	c.(544-546)ggG>ggA	p.G182G	DHRS7C_uc010cof.3_Silent_p.G181G	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	182						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTCCAAACTTCCCTTGGATAT	0.413000														17			19		0	0	0.00229938	0	0
OR6B3	150681	broad.mit.edu	37	2	240984753	240984753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:240984753G>A	uc010zoe.2	-	0	737	c.737C>T	c.(736-738)aCc>aTc	p.T246I	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGTGACCACGGTGAGGTGAGA	0.577000														34			28		0	0	0.000720815	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264526	61264526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:61264526C>T	uc010xep.2	+	7	1300	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S	SERPINB13_uc002ljc.3_Missense_Mutation_p.P369S|SERPINB13_uc002ljd.3_Missense_Mutation_p.P233S|SERPINB13_uc010xeq.2_Missense_Mutation_p.P190S|SERPINB13_uc010xer.2_Missense_Mutation_p.P190S	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	369					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGCAATCATCCCTTCCTGTT	0.498000														4			41		0	0	0.000680045	0	0
FAM86C1	55199	broad.mit.edu	37	11	71502807	71502807	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:71502807T>G	uc009ysr.3	+	2	208	c.182T>G	c.(181-183)gTg>gGg	p.V61G	FAM86C1_uc001oqv.4_Intron|FAM86C1_uc001oqw.4_Intron|FAM86C1_uc009yss.3_Non-coding_Transcript|FAM86C1_uc010rqq.2_Intron	NM_001099653	NP_001093123	Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member C1 (FAM86C1), transcript variant 3, mRNA.	58										lung(1)	1						CCTGTGTGTGTGAAGCACCCG	0.532000														2			32		0	0	0.000692331	0	0
KCNB2	9312	broad.mit.edu	37	8	73849983	73849983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:73849983C>T	uc003xzb.3	+	2	2981	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	798					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTTTCTCTTCAAGAGAGAGG	0.552000														29			15		0	0	0.000566183	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606281	7606281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:7606281C>T	uc003mxr.3	+	7	883	c.824C>T	c.(823-825)tCa>tTa	p.S275L	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_Missense_Mutation_p.S27L	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	275					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAAGGCGATCAGCTTCAGTA	0.418000														44			28		0	0	0.00127121	0	0
DHRS7B	25979	broad.mit.edu	37	17	21081617	21081617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:21081617G>A	uc002gyo.3	+	2	315	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	91						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGCCCTAGAAGAGCTCATCAG	0.557000														36			29		0	0	0.00283554	0	0
PRKG2	5593	broad.mit.edu	37	4	82063963	82063963	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:82063963G>A	uc003hmh.2	-	9	1405	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	PRKG2_uc011ccf.1_Silent_p.F44F|PRKG2_uc011ccg.1_Silent_p.F44F|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	464	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAACTCTTCCGAACCCACCAA	0.423000														16			87		0	0	0.000781405	0	0
PHF3	23469	broad.mit.edu	37	6	64422811	64422811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:64422811C>T	uc003pep.1	+	14	5352	c.5327C>T	c.(5326-5328)cCt>cTt	p.P1776L	PHF3_uc003pen.2_Missense_Mutation_p.P1688L|PHF3_uc011dxs.1_Missense_Mutation_p.P1045L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1776					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCAGAATTTCCTTCTAAAAGC	0.428000														39			32		0	0	0.00178596	0	0
ABCC3	8714	broad.mit.edu	37	17	48735850	48735850	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:48735850T>C	uc002isl.3	+	5	747	c.667T>C	c.(667-669)Ttc>Ctc	p.F223L	ABCC3_uc002isk.4_Missense_Mutation_p.F223L	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	223					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTTCTGGTGGTTCACAAAGTG	0.592000														47			38		0	0	0.00195071	0	0
C4BPA	722	broad.mit.edu	37	1	207297568	207297568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:207297568G>A	uc001hfo.3	+	5	757	c.563G>A	c.(562-564)gGt>gAt	p.G188D		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	188	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.G188S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AGGCACAGCGGTGAAGAAAAT	0.478000														53			34		0	0	0.00283554	0	0
CDH4	1002	broad.mit.edu	37	20	60485628	60485628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:60485628C>T	uc002ybn.2	+	8	1427	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	CDH4_uc002ybr.2_Missense_Mutation_p.P410S|CDH4_uc002ybp.2_Missense_Mutation_p.P373S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	447	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGCACAGACCCCGTAACCAA	0.602000														14			12		0	0	0.00185496	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449830	105449830	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:105449830G>A	uc022cca.1	+	0	405	c.405G>A	c.(403-405)cgG>cgA	p.R135R	MUM1L1_uc004emg.2_Silent_p.R135R|MUM1L1_uc004emf.2_Silent_p.R135R	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	135										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAATACCGGAAGGATGAAG	0.418000														3			19		0	0	0.00229938	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068452	57068452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:57068452G>A	uc001njr.3	-	8	5347	c.5035C>T	c.(5035-5037)Cag>Tag	p.Q1679*	TNKS1BP1_uc001njq.3_Nonsense_Mutation_p.Q252*|TNKS1BP1_uc001njs.3_Nonsense_Mutation_p.Q1679*	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1679	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GACTCCTTCTGGCTCGACTTG	0.587000														1			37		0	0	0.00170553	0	0
FOXK2	3607	broad.mit.edu	37	17	80540626	80540626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:80540626C>T	uc002kfn.3	+	4	1090	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	FOXK2_uc002kfm.1_Missense_Mutation_p.R307C|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	307	DNA-binding; major groove.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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 activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GAATTCAATTCGCCACAATCT	0.388000														22			14		0	0	0.00244969	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540276	40540276	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:40540276G>A	uc002omu.3	-	4	2555	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	ZNF780B_uc002omv.3_Silent_p.F682F	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCCAAGTATGAATTTTCTGA	0.378000														25			17		0	0	0.00074312	0	0
JARID2	3720	broad.mit.edu	37	6	15511561	15511561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:15511561G>A	uc003nbj.3	+	12	3125	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	JARID2_uc011div.2_Missense_Mutation_p.E789K	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	961	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAACAAGCTGGAAGATGTGGT	0.572000														58			34		0	0	0.000814825	0	0
RBFOX1	54715	broad.mit.edu	37	16	7657328	7657328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:7657328G>A	uc002cys.2	+	9	1652	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	RBFOX1_uc010buf.1_Missense_Mutation_p.E222K|RBFOX1_uc002cyr.1_Missense_Mutation_p.E221K|RBFOX1_uc002cyt.2_Missense_Mutation_p.E222K|RBFOX1_uc010uxz.1_Missense_Mutation_p.E265K|RBFOX1_uc010uya.1_Missense_Mutation_p.E179K|RBFOX1_uc002cyv.1_Missense_Mutation_p.E222K|RBFOX1_uc010uyb.1_Missense_Mutation_p.E222K|RBFOX1_uc002cyw.2_Missense_Mutation_p.E242K|RBFOX1_uc002cyy.2_Missense_Mutation_p.E242K|RBFOX1_uc002cyx.2_Missense_Mutation_p.E242K|RBFOX1_uc010uyc.1_Missense_Mutation_p.E242K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	222					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTACAGTCCCGAATTCTATGC	0.353000														50			69		0	0	0.000781405	0	0
FZD2	2535	broad.mit.edu	37	17	42636370	42636370	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:42636370C>T	uc002igx.2	+	0	1559	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	438					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGTCGCTCTTCCGCATCC	0.632000														43			35		0	0	0.00111076	0	0
DIABLO	56616	broad.mit.edu	37	12	122693123	122693123	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:122693123G>A	uc010tab.2	-	7	1329	c.524_splice	c.e7-1	p.G175_splice	DIABLO_uc010taa.2_Splice_Site_p.G122_splice|DIABLO_uc010tac.2_Splice_Site|DIABLO_uc010tad.2_Splice_Site_p.G131_splice|VPS33A_uc001ucc.3_Splice_Site	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CCTGATCTGCGCCTGCCAAAA	0.592000														13			7		0	0	0.000157383	0	0
PAPPA	5069	broad.mit.edu	37	9	119158837	119158837	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:119158837G>T	uc004bjn.3	+	21	5207	c.4826G>T	c.(4825-4827)cGg>cTg	p.R1609L	PAPPA_uc011lxq.2_Missense_Mutation_p.R984L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGCTTGTCGGGACCCCCAG	0.517000														89			69		2.0493e-37	7.1368e-37	0.000781405	1	0
HOXA1	3198	broad.mit.edu	37	7	27135280	27135280	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:27135280C>T	uc003sye.3	-	0	346	c.252G>A	c.(250-252)ggG>ggA	p.G84G	HOXA1_uc003syd.3_Silent_p.G84G|HOXA1_uc022aao.1_Silent_p.G84G|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	84						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G84G(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCCCAGGTTCCCGGAAGTCT	0.612000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		21			52		0	0	0.000781405	0	0
IQGAP3	128239	broad.mit.edu	37	1	156521554	156521554	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:156521554G>A	uc001fpf.3	-	14	1752	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	IQGAP3_uc009wsb.1_Silent_p.L516L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	559					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCGACAGGGAGGCTGACAT	0.567000														22			23		0	0	0.000878237	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819252	12819252	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:12819252A>G	uc002gnr.4	+	4	638	c.311A>G	c.(310-312)aAg>aGg	p.K104R	ARHGAP44_uc010vvk.2_Missense_Mutation_p.K104R|ARHGAP44_uc010vvl.2_Missense_Mutation_p.K104R|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.K104R|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	104	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACGGAGGACAAGCTGGCTCAG	0.493000														14			13		0	0	0.00185496	0	0
NUP210L	91181	broad.mit.edu	37	1	154067551	154067551	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:154067551T>C	uc001fdw.3	-	14	2119	c.2047A>G	c.(2047-2049)Atc>Gtc	p.I683V	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.I683V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	683						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGCTCCAAGATCCATGGACGA	0.438000														34			29		0	0	0.00127121	0	0
CTLA4	1493	broad.mit.edu	37	2	204735604	204735604	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:204735604C>T	uc002vak.2	+	1	560	c.405C>T	c.(403-405)taC>taT	p.Y135Y	CTLA4_uc002val.2_Silent_p.Y135Y|CTLA4_uc010fty.2_Intron|CTLA4_uc010ftz.2_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	135	Ig-like V-type.				B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	AGCTCATGTACCCACCGCCAT	0.512000														29			10		0	0	0.000442599	0	0
ADH6	130	broad.mit.edu	37	4	100134848	100134848	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:100134848C>T	uc003huo.2	-	2	271	c.177G>A	c.(175-177)ttG>ttA	p.L59L	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Silent_p.L59L|ADH6_uc010ile.3_Silent_p.L59L	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	59					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACAAGAGGTCCAAGTGTTTAC	0.502000														40			31		0	0	0.001512	0	0
FKRP	79147	broad.mit.edu	37	19	47260078	47260078	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:47260078C>T	uc002pfn.2	+	3	1668	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	FKRP_uc002pfp.2_Silent_p.F457F|FKRP_uc021uwj.1_Silent_p.F457F	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	457						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TTGCCGGCTTCGTGGCGCAGG	0.652000														7			4		0	0	0.00116845	0	0
COL16A1	1307	broad.mit.edu	37	1	32124100	32124100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:32124100G>A	uc001btk.1	-	63	4374	c.4009C>T	c.(4009-4011)Cct>Tct	p.P1337S	COL16A1_uc001btj.1_Missense_Mutation_p.P1135S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1337	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGGGGCCAGGGTGTCCAGGG	0.602000														15			7		0	0	0.00198382	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013850	156013850	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:156013850G>A	uc001fna.3	-	5	1089	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	UBQLN4_uc010pgx.2_Silent_p.T335T	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	355						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GCACCTGGCTGGTCCCCGATC	0.667000														24			19		0	0	0.00188189	0	0
S100A16	140576	broad.mit.edu	37	1	153580502	153580502	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:153580502G>A	uc001fcc.2	-	1	259	c.126C>T	c.(124-126)ctC>ctT	p.L42L	S100A16_uc001fcd.1_Silent_p.L42L	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	Homo sapiens S100 calcium binding protein A16 (S100A16), mRNA.	42	EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCTTTCTGGAGCATCTCGC	0.542000														28			18		0	0	0.00121646	0	0
C7orf58	79974	broad.mit.edu	37	7	120739987	120739987	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:120739987A>G	uc003vjq.4	+	6	1204	c.757A>G	c.(757-759)Acg>Gcg	p.T253A	C7orf58_uc003vjr.1_Missense_Mutation_p.T253A|C7orf58_uc003vjs.4_Missense_Mutation_p.T253A|C7orf58_uc003vjt.4_Missense_Mutation_p.T33A|C7orf58_uc010lkk.2_Missense_Mutation_p.T33A	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	253						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TAGGAATGAAACGACAGTCCT	0.378000														22			37		0	0	0.00195071	0	0
KCNG4	93107	broad.mit.edu	37	16	84256351	84256351	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:84256351G>A	uc010voc.2	-	2	1153	c.1032C>T	c.(1030-1032)atC>atT	p.I344I		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	344						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCACGTAGAGGATGCGCAGCG	0.692000														8			4		0	0	0.00024832	0	0
KCTD19	146212	broad.mit.edu	37	16	67333465	67333465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:67333465G>A	uc002esu.2	-	5	838	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	KCTD19_uc002est.2_Missense_Mutation_p.P35S|KCTD19_uc010vjj.1_Missense_Mutation_p.P6S	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	263						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P263P(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CAGGTGGTCGGGGAACAGCCA	0.632000														36			35		0	0	0.00058488	0	0
AV1S4A1N1T	0	broad.mit.edu	37	14	22322349	22322349	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:22322349G>A	uc001wcc.3	+	3	500	c.301_splice	c.e3+1	p.A101_splice	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 414.																		ATGTATTAGAGGGTAGGTACG	0.433000														0			8		0	0	0.000274275	0	0
TCRB	0	broad.mit.edu	37	7	142120030	142120030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:142120030G>A	uc022anf.1	-	1	181	c.152C>T	c.(151-153)tCg>tTg	p.S51L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCATGACTCGAAATTGGATC	0.493000														21			42		0	0	0.0025221	0	0
CDH6	1004	broad.mit.edu	37	5	31323206	31323206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:31323206G>A	uc003jhe.2	+	11	2524	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E722K(4)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGGTTAAAGGAAAATGACAC	0.562000														41			14		0	0	0.00244969	0	0
NELL1	4745	broad.mit.edu	37	11	21250883	21250883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:21250883G>A	uc009yid.3	+	14	1669	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	NELL1_uc010rdp.2_Missense_Mutation_p.D238N|NELL1_uc001mqe.3_Missense_Mutation_p.D478N|NELL1_uc001mqf.3_Missense_Mutation_p.D478N|NELL1_uc010rdo.2_Missense_Mutation_p.D421N	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	478	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGAACACGATGAATGTGG	0.463000														4			33		0	0	0.000692331	0	0
TREM1	54210	broad.mit.edu	37	6	41248754	41248754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:41248754C>T	uc003oqf.2	-	2	608	c.544G>A	c.(544-546)Gat>Aat	p.D182N	TREM1_uc003oqg.2_Intron|TREM1_uc021yzj.1_Missense_Mutation_p.D182N	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	182					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	GTGGAGACATCGGCAGTTGAC	0.512000														33			23		0	0	0.00278032	0	0
ZNF616	90317	broad.mit.edu	37	19	52619037	52619037	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:52619037G>A	uc002pym.3	-	3	1663	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTTTCTCGCCGGTATGAATTC	0.388000														64			29		0	0	0.001512	0	0
TMEM44	93109	broad.mit.edu	37	3	194349132	194349132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:194349132C>T	uc010hzn.3	-	1	450	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	TMEM44_uc003fuf.3_Missense_Mutation_p.A82T|TMEM44_uc003fue.3_Missense_Mutation_p.A82T|TMEM44_uc011bsv.2_Missense_Mutation_p.A82T|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	82						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		AGCTGTCTGGCCAGAAGAGCC	0.597000														10			4		0	0	0.00116845	0	0
MORC2	22880	broad.mit.edu	37	22	31331235	31331235	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:31331235C>T	uc003aje.1	-	19	2990	c.1626_splice	c.e19+1	p.E542_splice		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	604							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGACTTCACCTCAGTGGAAG	0.517000														10			8		0	0	0.000442599	0	0
TSPAN13	27075	broad.mit.edu	37	7	16816728	16816729	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:16816728_16816729CC>TT	uc003stq.3	+	2	535_536	c.293_294CC>TT	c.(292-294)gcc>gTT	p.A98V		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	98						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCTTGTTTAGCCCTGAACCAGG	0.312000														52			52		0	0	6.4e-05	0	0
HTR7	3363	broad.mit.edu	37	10	92508762	92508762	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:92508762A>T	uc001kha.3	-	1	1372	c.1129T>A	c.(1129-1131)Tct>Act	p.S377T	HTR7_uc001kgz.3_Missense_Mutation_p.S377T|HTR7_uc001khb.3_Missense_Mutation_p.S377T	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	377					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TTAATGAGAGAGTTTGCATAG	0.527000														7			69		0	0	0.000781405	0	0
COL4A5	1287	broad.mit.edu	37	X	107850056	107850056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:107850056C>T	uc022ccg.1	+	28	2531	c.2329C>T	c.(2329-2331)Cgt>Tgt	p.R777C	COL4A5_uc004enz.1_Missense_Mutation_p.R777C|COL4A5_uc004eob.1_Missense_Mutation_p.R385C	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	777	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAAAGGTGATCGTGGTTTCCC	0.547000									Alport syndrome with Diffuse Leiomyomatosis					5			66		0	0	0.000781405	0	0
RARRES2	5919	broad.mit.edu	37	7	150037221	150037221	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:150037221T>A	uc003wha.3	-	2	364	c.247A>T	c.(247-249)Aag>Tag	p.K83*		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	83					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCGGGTTTCTTCCAGTCCCTC	0.572000														220			373		0	0	0.000781405	0	0
MYH2	4620	broad.mit.edu	37	17	10431131	10431131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10431131C>T	uc010coi.3	-	27	3933	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1269K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1269					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTCCTCTTCCTTTGATTTC	0.488000														54			45		0	0	0.000781405	0	0
MYO9A	4649	broad.mit.edu	37	15	72190181	72190181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:72190181C>T	uc002atl.4	-	24	5136	c.4663G>A	c.(4663-4665)Gag>Aag	p.E1555K	MYO9A_uc010biq.3_Missense_Mutation_p.E1175K|MYO9A_uc002atn.1_Missense_Mutation_p.E1536K|MYO9A_uc002atk.3_Missense_Mutation_p.E279K|MYO9A_uc002atm.1_Missense_Mutation_p.E279K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1555	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGGCCTCTCTACTCTTTGC	0.423000														22			24		0	0	0.000720815	0	0
PCDH15	65217	broad.mit.edu	37	10	55600246	55600246	+	Missense_Mutation	SNP	G	A	A	rs111033363	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:55600246G>A	uc010qhy.1	-	29	4227	c.3832C>T	c.(3832-3834)Cgc>Tgc	p.R1278C	PCDH15_uc010qhq.2_Missense_Mutation_p.R1278C|PCDH15_uc010qhr.2_Missense_Mutation_p.R1273C|PCDH15_uc021pqv.1_Missense_Mutation_p.R1273C|PCDH15_uc021pqw.1_Missense_Mutation_p.R1285C|PCDH15_uc010qht.2_Missense_Mutation_p.R1280C|PCDH15_uc021pqx.1_Missense_Mutation_p.R1273C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1273C|PCDH15_uc021pqz.1_Missense_Mutation_p.R1251C|PCDH15_uc010qhv.1_Missense_Mutation_p.R1273C|PCDH15_uc010qhw.1_Missense_Mutation_p.R1236C|PCDH15_uc010qhx.1_Missense_Mutation_p.R1202C|PCDH15_uc010qhz.1_Missense_Mutation_p.R1273C|PCDH15_uc010qia.1_Missense_Mutation_p.R1251C|PCDH15_uc001jju.1_Missense_Mutation_p.R1273C|PCDH15_uc010qib.1_Missense_Mutation_p.R1251C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1273					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAACATAGCGATCCAAGATC	0.408000										HNSCC(58;0.16)				0			10		0	0	0.000442599	0	0
CNGA2	1260	broad.mit.edu	37	X	150908112	150908112	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:150908112C>T	uc004fey.1	+	3	506	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	94					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTCATTCCTCGAGCGTT	0.537000														0			17		0	0	0.000958276	0	0
C1orf173	127254	broad.mit.edu	37	1	75037439	75037439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:75037439C>T	uc001dgg.3	-	13	4174	c.3955G>A	c.(3955-3957)Gac>Aac	p.D1319N		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1319	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCATGTCCCCGTCCCCT	0.557000														39			38		0	0	0.000781405	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432890	111432890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:111432890C>T	uc003dya.3	+	2	1351	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	PLCXD2_uc003dxz.3_Missense_Mutation_p.H261Y	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.H261Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGGCTCCTTCCATGTCTCCCA	0.557000														28			19		0	0	0.000958276	0	0
DMBX1	127343	broad.mit.edu	37	1	46977754	46977754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:46977754G>A	uc001cpx.3	+	3	752	c.737G>A	c.(736-738)gGg>gAg	p.G246E	DMBX1_uc001cpw.3_Missense_Mutation_p.G241E	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	246					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTGGCCCCAGGGGGTGGCCTC	0.627000														93			49		0	0	0.000781405	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049425	36049425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:36049425C>T	uc003jjz.2	-	3	541	c.409G>A	c.(409-411)Gag>Aag	p.E137K	UGT3A2_uc011cos.2_Missense_Mutation_p.E103K|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	137						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGAAGTTCTCATTCTTTAAG	0.363000														31			62		0	0	0.000781405	0	0
PKD1L1	168507	broad.mit.edu	37	7	47968881	47968882	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:47968881_47968882CC>AA	uc003tny.2	-	6	1013_1014	c.979_980GG>TT	c.(979-981)ggg>TTg	p.G327L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	327					cell-cell adhesion	integral to membrane		p.F326F(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAACTGTCCCCGAAATCCATC	0.510000														277			8		0	0	6.4e-05	0	0
PSKH2	85481	broad.mit.edu	37	8	87060806	87060806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:87060806G>A	uc011lfy.2	-	2	1043	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	348							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGGACTCTGAGAGTGGGGAGA	0.507000														39			38		0	0	0.00111076	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052914	33052914	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:33052914C>T	uc003ocu.2	+	2	668	c.552C>T	c.(550-552)atC>atT	p.I184I	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.I80I	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	184	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCTTCCAGATCCTGGTGATGC	0.562000														45			40		0	0	0.00128727	0	0
XRRA1	143570	broad.mit.edu	37	11	74570238	74570238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:74570238G>A	uc009yub.3	-	11	1443	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.3_Intron|XRRA1_uc001ovo.3_Intron|XRRA1_uc001ovp.4_Intron|XRRA1_uc001ovq.4_Intron|XRRA1_uc001ovr.2_Intron|XRRA1_uc001ovt.2_Missense_Mutation_p.P124L|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	371					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTCAGCTCTGGGAAGGGTGGG	0.517000														0			19		0	0	0.00121646	0	0
C16orf78	123970	broad.mit.edu	37	16	49430385	49430385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:49430385C>T	uc002efr.3	+	3	489	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	149								p.P149P(1)|p.P149T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CGGCCAAACCCATTCCGTCGA	0.498000														35			31		0	0	0.00058488	0	0
KCNB2	9312	broad.mit.edu	37	8	73848366	73848366	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:73848366G>A	uc003xzb.3	+	2	1364	c.776G>A	c.(775-777)tGg>tAg	p.W259*		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	259					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAAATAAATGGAAGTTCTTC	0.458000														43			42		0	0	0.00195071	0	0
CELA3B	23436	broad.mit.edu	37	1	22328198	22328198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:22328198C>T	uc001bfl.3	+	0	50	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	CELA3B_uc009vqf.3_Intron	NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	11					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TTCCCTCCTCCTTGTGGCCGT	0.547000														103			98		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744593	140744593	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:140744593C>T	uc003lju.2	+	0	696	c.696C>T	c.(694-696)gtC>gtT	p.V232V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.V232V	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	232	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTTACGGTCCTCGACGCAA	0.587000														6			20		0	0	0.00229938	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:100169975G>A	uc001pga.3	+	19	2971	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_uc001pfz.3_Missense_Mutation_p.E823K|CNTN5_uc021qpb.1_Missense_Mutation_p.E823K|CNTN5_uc021qpc.1_Missense_Mutation_p.E749K|CNTN5_uc010ruk.2_Missense_Mutation_p.E94K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000														3			43		0	0	0.00195071	0	0
LILRA4	23547	broad.mit.edu	37	19	54848870	54848870	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:54848870G>A	uc002qfj.3	-	4	810	c.753C>T	c.(751-753)atC>atT	p.I251I	LILRA4_uc002qfi.3_Silent_p.I185I	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	251	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GAGTGTATCTGATGTAGCCGA	0.662000														17			11		0	0	0.000978159	0	0
ABCB11	8647	broad.mit.edu	37	2	169792881	169792881	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:169792881G>A	uc002ueo.1	-	21	2799	c.2673C>T	c.(2671-2673)atC>atT	p.I891I	ABCB11_uc010zda.1_Silent_p.I333I|ABCB11_uc010zdb.1_Silent_p.I367I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	891	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.M890L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGAAGGCAATGATCATGGCCA	0.502000														53			33		0	0	0.000953801	0	0
KLHL32	114792	broad.mit.edu	37	6	97562260	97562260	+	Missense_Mutation	SNP	G	A	A	rs150244885		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:97562260G>A	uc010kcm.1	+	6	1701	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	KLHL32_uc003poy.3_Missense_Mutation_p.R410H|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.R374H|KLHL32_uc011eae.1_Missense_Mutation_p.R341H|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	410										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AATGAACTGCGCCAGGTTCTG	0.498000														26			20		0	0	0.00152264	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711283	155711283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:155711283C>T	uc002tyv.1	+	2	1159	c.964C>T	c.(964-966)Ctt>Ttt	p.L322F	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	322					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGATGAAGTTCTTTGGGGTCA	0.383000														52			26		0	0	0.00209593	0	0
TTN	7273	broad.mit.edu	37	2	179634970	179634970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179634970G>A	uc021vsy.1	-	35	8683	c.8458C>T	c.(8458-8460)Cat>Tat	p.H2820Y	TTN_uc021vsz.1_Missense_Mutation_p.H2774Y|TTN_uc021vta.1_Missense_Mutation_p.H2774Y|TTN_uc021vtb.1_Missense_Mutation_p.H2774Y|TTN_uc002unb.2_Missense_Mutation_p.H2820Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2820							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTGTCATGGGAAACACTA	0.413000														50			66		0	0	0.000781405	0	0
OR11G2	390439	broad.mit.edu	37	14	20666407	20666407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:20666407G>A	uc010tlb.2	+	0	913	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		atctaagaatgaagctggaaa	0.453000														8			54		0	0	0.000781405	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141416	41141416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:41141416C>T	uc002ici.1	+	2	728	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	239										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACATCAGTTCCCTGTCCACT	0.448000														25			17		0	0	0.00074312	0	0
AK310441	0	broad.mit.edu	37	1	148891619	148891619	+	RNA	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:148891619G>A	uc009wkv.1	+	8		c.921G>A								Homo sapiens cDNA, FLJ17483.																		GTTCCAAGAAGAAAACTGTCA	0.418000														106			15		0	0	0.000422831	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074054	8074054	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:8074054C>T	uc001qtr.3	-	9	1708	c.1446G>A	c.(1444-1446)gaG>gaA	p.E482E		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	482					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGCTGTTCATCTCCATGACGC	0.567000														202			53		0	0	0.000781405	0	0
GABRP	2568	broad.mit.edu	37	5	170222424	170222424	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:170222424C>T	uc003mau.3	+	4	651	c.453C>T	c.(451-453)gcC>gcT	p.A151A	GABRP_uc011dev.2_Silent_p.A151A	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	151						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTGTATGCCCTCAGGTACG	0.532000														1			24		0	0	0.00278032	0	0
LRRN2	10446	broad.mit.edu	37	1	204587039	204587039	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:204587039C>T	uc021phy.1	-	0	2082	c.2082G>A	c.(2080-2082)agG>agA	p.R694R	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.R694R|LRRN2_uc001hbf.1_Silent_p.R694R|LRRN2_uc009xbf.1_Silent_p.R694R|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	694					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGGCAGCTTCCTCCCTGGAT	0.582000														109			41		0	0	0.000781405	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730447	15730447	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:15730447G>A	uc002nbi.3	+	5	462	c.398_splice	c.e5-1	p.G133_splice	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	133					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCGTACTAGGGGATGGGCTCT	0.532000														11			15		0	0	0.00244969	0	0
SCN10A	6336	broad.mit.edu	37	3	38751082	38751082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:38751082C>T	uc003ciq.3	-	23	4168	c.4168G>A	c.(4168-4170)Gac>Aac	p.D1390N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1390					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TACACGTTGTCCTCCCACTTG	0.448000														19			16		0	0	0.00074312	0	0
CXXC11	285093	broad.mit.edu	37	2	242814966	242814966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:242814966C>T	uc010fzu.1	+	1	1282	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	420						integral to membrane											GTCAAGGGCTCCCTTGCCCTC	0.632000														15			12		0	0	0.00136819	0	0
CDSN	1041	broad.mit.edu	37	6	31084213	31084213	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:31084213G>A	uc003nsm.2	-	1	1235	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	393	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GAGAACTGGAGGGAGAGCAGG	0.642000														0			4		0	0	0.00024832	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035894	95035894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:95035894C>T	uc010avd.3	+	4	1631	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	SERPINA4_uc001ydk.3_Missense_Mutation_p.L416F|SERPINA4_uc001ydl.3_Missense_Mutation_p.L416F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	416					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGAGTGTCCTCTTTCTGGG	0.577000														3			35		0	0	0.00170553	0	0
ENTPD5	957	broad.mit.edu	37	14	74436806	74436806	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:74436806G>A	uc010tuo.2	-	14	1418	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ENTPD5_uc001xpi.3_Silent_p.F369F	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	369					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGCCTGAGGTGAAGTTTTCCA	0.448000														3			24		0	0	0.000720815	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463006	5463006	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:5463006T>C	uc003jdm.4	+	12	3781	c.3559T>C	c.(3559-3561)Tat>Cat	p.Y1187H		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1187										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTTAGGGGATTATAGTTCAGG	0.373000														20			3		0	0	0.00024832	0	0
CFHR5	81494	broad.mit.edu	37	1	196952084	196952084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:196952084C>T	uc001gts.4	+	1	256	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	43	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AACCCTTTTTCCCAAGTTCCT	0.348000														78			24		0	0	0.000720815	0	0
ZFP112	7771	broad.mit.edu	37	19	44833297	44833297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:44833297G>A	uc010xwy.2	-	4	1200	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	ZFP112_uc010ejj.3_Missense_Mutation_p.S344F|ZFP112_uc002ozc.4_Missense_Mutation_p.S338F|ZFP112_uc010xwz.2_Missense_Mutation_p.S343F	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GTTAAGAGGGGAACAGTGATT	0.383000														25			19		0	0	0.00152264	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:42080489G>A	uc002yyq.1	-	1	704	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	84	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGGAAGGGGAAAATTTGGA	0.498000														7			36		0	0	0.000692331	0	0
TET2	54790	broad.mit.edu	37	4	106156322	106156322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:106156322C>T	uc011cez.2	+	2	1691	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	TET2_uc003hxk.3_Missense_Mutation_p.P408L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.P408L|TET2_uc010ilp.2_Missense_Mutation_p.P408L|TET2_uc021xql.1_Missense_Mutation_p.P408L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	408			G -> R.		cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTCTTTCTCCCCCTCCTCCT	0.468000			"""Mis N, F"""		MDS									40			45		0	0	0.000781405	0	0
SPTLC3	55304	broad.mit.edu	37	20	13055077	13055077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:13055077C>T	uc002wod.1	+	3	828	c.539C>T	c.(538-540)tCt>tTt	p.S180F		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	180					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TATGATGAGTCTATGAGGACA	0.428000														55			50		0	0	0.000781405	0	0
FAM171A1	221061	broad.mit.edu	37	10	15296775	15296775	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:15296775G>A	uc001iob.3	-	3	529	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	174						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTCCGAAGGGGAGCTGGCGG	0.522000														2			19		0	0	0.00152264	0	0
MYH8	4626	broad.mit.edu	37	17	10312618	10312618	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10312618G>A	uc002gmm.2	-	15	1970	c.1875C>T	c.(1873-1875)tcC>tcT	p.S625S	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	625	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TAGCATACGTGGAAAAGAGAC	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					45			28		0	0	0.000814825	0	0
STOX1	219736	broad.mit.edu	37	10	70645591	70645591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:70645591C>T	uc001jos.2	+	2	2126	c.2039C>T	c.(2038-2040)cCt>cTt	p.P680L	STOX1_uc001joq.3_Missense_Mutation_p.P570L|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.P570L	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	680						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGCGTGAACCCTTTAAGACAA	0.413000														4			37		0	0	0.000814825	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858525	43858525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:43858525C>T	uc010skx.2	-	9	1378	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	460	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGACATTCCCCGTAACCAGTA	0.358000														22			27		0	0	0.000878237	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004826	20004826	+	Silent	SNP	G	A	A	rs17215766	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:20004826G>A	uc011kyq.2	-	15	1878	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	SLC18A1_uc003wzm.3_Silent_p.I469I|SLC18A1_uc011kyr.2_Intron|SLC18A1_uc003wzn.3_Silent_p.I437I|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	469					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GAGCATAGACGATGTTGATGA	0.512000														21			15		0	0	0.000422831	0	0
C3orf67	200844	broad.mit.edu	37	3	58849474	58849475	+	Missense_Mutation	DNP	TC	GT	GT	rs112633530		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:58849474_58849475TC>GT	uc003dkt.1	-	11	1436_1437	c.1027_1028GA>AC	c.(1027-1029)gag>ACg	p.E343T	C3orf67_uc003dks.1_Missense_Mutation_p.E158T|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.E158T|C3orf67_uc003dkw.3_Missense_Mutation_p.E238T	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	343										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGGGATTCCTCTGCCTGCTGG	0.515000														79			57		0	0	6.4e-05	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281564	145281564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:145281564C>T	uc001emn.4	+	3	864	c.494C>T	c.(493-495)tCc>tTc	p.S165F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.S165F|NOTCH2NL_uc001emo.2_Missense_Mutation_p.S165F|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	165	EGF-like 5; calcium-binding (Potential).				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.S165F(6)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGCCTGGTTCCTACCAGTGC	0.577000														795			76		0	0	0.000781405	0	0
CCDC57	284001	broad.mit.edu	37	17	80159682	80159682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:80159682G>A	uc002kdx.1	-	1	176	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	CCDC57_uc002kdz.1_Nonsense_Mutation_p.Q47*	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	47										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGTTTCCCCTGCGCCTCCTCC	0.667000														35			26		0	0	0.00178596	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165543	134165543	+	Silent	SNP	T	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:134165543T>G	uc004cal.2	+	0	463	c.159T>G	c.(157-159)ggT>ggG	p.G53G		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 3 (PPAPDC3), mRNA.	53						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CACCTGCTGGTGACGGGGCCA	0.677000														7			7		0	0	0.00198382	0	0
USH2A	7399	broad.mit.edu	37	1	216496995	216496995	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:216496995C>T	uc001hku.1	-	7	1758	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	USH2A_uc001hkv.3_Silent_p.L457L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	457	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCAGGTGTCAGGATGCTAA	0.363000										HNSCC(13;0.011)				79			31		0	0	0.000814825	0	0
GDF3	9573	broad.mit.edu	37	12	7848166	7848166	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:7848166T>G	uc001qte.3	-	0	195	c.159A>C	c.(157-159)aaA>aaC	p.K53N		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	53					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGGAAAATTTTCTTCAAGA	0.502000														24			23		0	0	0.00229938	0	0
MUC17	140453	broad.mit.edu	37	7	100683911	100683911	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:100683911G>T	uc003uxp.1	+	2	9267	c.9214G>T	c.(9214-9216)Gac>Tac	p.D3072Y	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3072	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACTCCAACAG	0.483000														126			261		3.24227e-129	1.13353e-128	0.000781405	1	0
CD72	971	broad.mit.edu	37	9	35610665	35610665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:35610665G>A	uc003zxb.2	-	7	1160	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CD72_uc010mkt.1_Missense_Mutation_p.L131F	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	346	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGTAGGGAAGAGAACTTCTA	0.448000														2			24		0	0	0.00229938	0	0
LOC728989	728989	broad.mit.edu	37	1	146496468	146496468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:146496468G>A	uc001epd.2	-	1	106	c.32C>T	c.(31-33)cCt>cTt	p.P11L						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		CCGGACTGGAGGGGACACAGC	0.522000														30			28		0	0	0.000878237	0	0
GPR98	84059	broad.mit.edu	37	5	89970009	89970009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:89970009G>A	uc003kju.3	+	22	5164	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1690					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGAAAAGGAAACGACTGA	0.423000														4			9		0	0	0.000673444	0	0
GPX6	257202	broad.mit.edu	37	6	28472261	28472261	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:28472261C>T	uc021yrx.1	-	4	524	c.474G>A	c.(472-474)ccG>ccA	p.P158P	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	158					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GATCAGAGGTCGGAGGGCAGG	0.443000														21			21		0	0	0.00121646	0	0
KLK11	11012	broad.mit.edu	37	19	51527553	51527553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:51527553G>A	uc002pvd.1	-	3	419	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	KLK11_uc002pvc.4_Missense_Mutation_p.H71Y|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Missense_Mutation_p.H96Y|KLK11_uc002pvf.1_Missense_Mutation_p.H71Y|KLK11_uc010eom.3_Missense_Mutation_p.S72L	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	103	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGCCCCAGGTGAACTATGTAG	0.592000														40			21		0	0	0.00188189	0	0
ADAM18	8749	broad.mit.edu	37	8	39495113	39495113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:39495113G>A	uc003xni.3	+	8	773	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E216K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	240	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTGGTCAAATGAAAACCAGAT	0.358000														23			27		0	0	0.000878237	0	0
KIF21A	55605	broad.mit.edu	37	12	39726502	39726502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:39726502G>A	uc001rly.3	-	19	3167	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Missense_Mutation_p.S233F|KIF21A_uc001rlx.3_Missense_Mutation_p.S903F|KIF21A_uc001rlz.3_Missense_Mutation_p.S880F|KIF21A_uc010skl.2_Missense_Mutation_p.S903F	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	916					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGCTGTCTTGGAAATAAACAC	0.408000														31			28		0	0	0.00127121	0	0
TNC	3371	broad.mit.edu	37	9	117853196	117853196	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:117853196C>T	uc004bjj.4	-	1	514	c.102G>A	c.(100-102)caG>caA	p.Q34Q	TNC_uc010mvf.3_Silent_p.Q34Q|TNC_uc022bmj.1_Silent_p.Q34Q	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	34					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCACCCCACTCTGTCGCTTGT	0.562000														27			21		0	0	0.00229938	0	0
CDH26	60437	broad.mit.edu	37	20	58587777	58587777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:58587777C>T	uc002ybe.3	+	17	2802	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_Missense_Mutation_p.P164S|CDH26_uc002ybi.3_Missense_Mutation_p.P123S	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTCAGGTGTTCCTTCCTAAAA	0.408000														24			22		0	0	0.00278032	0	0
NCOR1	9611	broad.mit.edu	37	17	15960834	15960834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:15960834C>T	uc002gpo.3	-	39	6655	c.6386G>A	c.(6385-6387)aGg>aAg	p.R2129K	NCOR1_uc002gpn.3_Missense_Mutation_p.R2026K|NCOR1_uc002gpl.3_Missense_Mutation_p.R144K|NCOR1_uc002gpm.3_Missense_Mutation_p.R649K|NCOR1_uc010vwb.2_Missense_Mutation_p.R713K|NCOR1_uc010coy.3_Missense_Mutation_p.R1037K|NCOR1_uc010vwc.2_Missense_Mutation_p.R939K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2129	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATACCTTCCCCTGGATTTGTC	0.378000														69			54		0	0	0.000781405	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192399	132192399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:132192399C>T	uc003vra.4	-	1	1283	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	PLXNA4_uc003vrc.2_Missense_Mutation_p.E352K|PLXNA4_uc003vrb.3_Missense_Mutation_p.E352K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	352	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGGCCGACTCATCCAGGGAT	0.577000														25			47		0	0	0.000781405	0	0
ADCY9	115	broad.mit.edu	37	16	4027616	4027616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:4027616C>T	uc002cvx.3	-	8	3234	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	899					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCGGCCGAGCCTGTGAACACT	0.652000														28			8		0	0	0.000274275	0	0
HERC2	8924	broad.mit.edu	37	15	28419673	28419674	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:28419673_28419674GG>AA	uc001zbj.3	-	64	10030_10031	c.9924_9925CC>TT	c.(9922-9927)ggccag>ggTTag	p.Q3309*		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3309					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G3308G(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGATCTTCTGGCCTTCTAAGC	0.599000														30			21		0	0	6.4e-05	0	0
ACSF3	197322	broad.mit.edu	37	16	89167527	89167527	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:89167527C>T	uc010cig.2	+	1	646	c.438C>T	c.(436-438)gtC>gtT	p.V146V	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Silent_p.V146V|ACSF3_uc021tmq.1_Silent_p.V146V|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	146					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCTCTGTGGTCCTTGCCAGCC	0.642000														19			30		0	0	0.00127121	0	0
SEZ6	124925	broad.mit.edu	37	17	27309029	27309030	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:27309029_27309030CC>TT	uc002hdp.2	-	1	277_278	c.83_84GG>AA	c.(82-84)ggg>gAA	p.G28E	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.G28E|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.G28E	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	28						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CTTGTCCTTTCCCCACGGTTGG	0.584000														13			10		0	0	6.4e-05	0	0
PSG11	5680	broad.mit.edu	37	19	43519492	43519492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:43519492G>A	uc002ovm.1	-	3	847	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.S125L|PSG11_uc002ovo.1_Missense_Mutation_p.S125L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGAGGTGACTGAAGGGAAAAT	0.468000														69			52		0	0	0.000781405	0	0
STAG1	10274	broad.mit.edu	37	3	136240063	136240063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:136240063G>A	uc003era.1	-	6	960	c.668C>T	c.(667-669)aCc>aTc	p.T223I	STAG1_uc003erb.1_Missense_Mutation_p.T223I|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_Missense_Mutation_p.T86I|STAG1_uc003ere.3_Missense_Mutation_p.T223I	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	223					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACCAGCCAGGGTACTTGTATG	0.323000														24			29		0	0	0.00106085	0	0
CSMD2	114784	broad.mit.edu	37	1	34102028	34102028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:34102028G>A	uc001bxm.1	-	29	5078	c.4901C>T	c.(4900-4902)tCg>tTg	p.S1634L	CSMD2_uc001bxn.1_Missense_Mutation_p.S1594L|CSMD2_uc001bxo.1_Missense_Mutation_p.S507L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1594	CUB 10.					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)				GCTCAGGGTCGAGGTGCCCTC	0.642000														8			9		0	0	0.000673444	0	0
DUSP26	78986	broad.mit.edu	37	8	33449605	33449605	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:33449605T>G	uc003xjp.3	-	3	895	c.562A>C	c.(562-564)Atc>Ctc	p.I188L	DUSP26_uc003xjq.3_Missense_Mutation_p.I188L	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	188	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TTGGGGATGATGCCTCGGTGG	0.647000														24			14		0	0	0.000422831	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862543	25862543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:25862543G>A	uc003nfk.4	-	2	331	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SLC17A3_uc003nfi.4_Missense_Mutation_p.S74F|SLC17A3_uc011djz.1_Missense_Mutation_p.S74F|SLC17A3_uc011dka.1_Missense_Mutation_p.S74F	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	74					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448000														38			31		0	0	0.00209593	0	0
COL3A1	1281	broad.mit.edu	37	2	189875410	189875410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:189875410C>T	uc002uqj.1	+	49	4165	c.4048C>T	c.(4048-4050)Ctt>Ttt	p.L1350F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1350	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGAAGATGTCCTTGATGTGCA	0.438000														51			46		0	0	0.000781405	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213851	42213851	+	Missense_Mutation	SNP	C	T	T	rs150911810	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:42213851C>T	uc002orl.3	+	1	438	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CEACAM5_uc010ehz.1_Missense_Mutation_p.S106F|CEACAM5_uc002orj.1_Missense_Mutation_p.S106F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	106	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCAATGCATCCCTGCTGATC	0.468000														99			53		0	0	0.000781405	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886063	70886063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:70886063G>A	uc003tvy.3	+	4	934	c.934G>A	c.(934-936)Gac>Aac	p.D312N	WBSCR17_uc003tvz.3_Missense_Mutation_p.D11N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	312						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D312D(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGACTGGTGGGACGCCGGAGA	0.592000														49			26		0	0	0.00106085	0	0
BCAS3	54828	broad.mit.edu	37	17	59152286	59152286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:59152286C>T	uc002iyv.4	+	20	2189	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S	BCAS3_uc002iyu.4_Missense_Mutation_p.P679S|BCAS3_uc002iyw.4_Missense_Mutation_p.P675S|BCAS3_uc002iyy.4_Missense_Mutation_p.P450S|BCAS3_uc002iyz.4_Missense_Mutation_p.P248S|BCAS3_uc002iza.4_Missense_Mutation_p.P233S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	694						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TATAGTGGTTCCCCCTGGAAG	0.428000														58			38		0	0	0.000953801	0	0
PDZD8	118987	broad.mit.edu	37	10	119044301	119044302	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:119044301_119044302GG>AA	uc001lde.1	-	4	2141_2142	c.1942_1943CC>TT	c.(1942-1944)cct>TTt	p.P648F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	648					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)		AAATTGCTTAGGTGCAGCTGCA	0.455000														8			34		0	0	6.4e-05	0	0
PRKD2	25865	broad.mit.edu	37	19	47197355	47197356	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:47197355_47197356GG>AA	uc002pfh.3	-	10	1694_1695	c.1352_1353CC>TT	c.(1351-1353)tcc>tTT	p.S451F	PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Missense_Mutation_p.S294F|PRKD2_uc002pfi.3_Missense_Mutation_p.S451F|PRKD2_uc002pfj.3_Missense_Mutation_p.S451F|PRKD2_uc010xye.2_Missense_Mutation_p.S451F|PRKD2_uc002pfk.3_Missense_Mutation_p.S294F	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	451	PH.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGTTCTGGGCGGACTCCACCGT	0.584000														32			20		0	0	6.4e-05	0	0
MLL2	8085	broad.mit.edu	37	19	36217228	36217228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:36217228C>T	uc021usv.1	+	13	3977	c.3977C>T	c.(3976-3978)cCc>cTc	p.P1326L	MLL2_uc021usu.1_Missense_Mutation_p.P140L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1499	Arg-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGCCTCTGCCCCAGGTGCACC	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				35			22		0	0	0.000878237	0	0
PKD2L1	9033	broad.mit.edu	37	10	102059380	102059380	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:102059380G>A	uc001kqx.1	-	2	828	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	PKD2L1_uc009xwm.1_Nonsense_Mutation_p.Q102*	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	149					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGATGGCCTGAAAGGAGACT	0.483000														2			39		0	0	0.00170553	0	0
PTPRN2	5799	broad.mit.edu	37	7	158109571	158109571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:158109571C>T	uc003wno.3	-	2	338	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E56K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E73K|PTPRN2_uc003wnr.3_Intron|PTPRN2_uc011kwa.2_Missense_Mutation_p.E96K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	73						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCGACACCTCGTAGCGGTAA	0.607000														10			31		0	0	0.00111076	0	0
BRAT1	221927	broad.mit.edu	37	7	2583254	2583254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:2583254G>A	uc003smi.3	-	4	1061	c.773C>T	c.(772-774)tCg>tTg	p.S258L	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.S83L|BRAT1_uc003smj.2_Missense_Mutation_p.S258L	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	258					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GTCCACGAACGAGTGTGCGGC	0.687000														37			54		0	0	0.000781405	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148944420	148944420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:148944420C>T	uc003ilf.3	+	18	1723	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	ARHGAP10_uc003ilg.3_Missense_Mutation_p.R224W|ARHGAP10_uc003ilh.3_Missense_Mutation_p.R156W|ARHGAP10_uc003ili.3_Missense_Mutation_p.R8W	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	575					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGATTTTTCGGACGCCGCC	0.488000														37			32		0	0	0.000692331	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239306319	239306320	+	Splice_Site	DNP	AG	GA	GA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:239306319_239306320AG>GA	uc002vye.3	+	16	2029	c.1910_splice	c.e16+1	p.R637_splice	TRAF3IP1_uc002vyf.3_Splice_Site_p.R571_splice	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	637	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCAGGAGCAGAGGTGGGGGGTA	0.639000														19			19		0	0	6.4e-05	0	0
ROS1	6098	broad.mit.edu	37	6	117622160	117622160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:117622160C>T	uc003pxp.1	-	41	6909	c.6710G>A	c.(6709-6711)gGa>gAa	p.G2237E	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2237					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G2237V(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTTATGACTCCACTGTTGTT	0.328000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									26			37		0	0	0.00195071	0	0
GPR112	139378	broad.mit.edu	37	X	135433683	135433683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:135433683G>A	uc004ezu.1	+	6	7096	c.6805G>A	c.(6805-6807)Gaa>Aaa	p.E2269K	GPR112_uc010nsb.1_Missense_Mutation_p.E2064K|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2269					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTTATAAATGAATTTACGGA	0.264000														1			50		0	0	0.000781405	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405373	125405373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:125405373G>A	uc010flu.3	+	12	2279	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E638K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	638	Fibrinogen C-terminal.				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)		CAACAATACAGAGCTGACCCG	0.547000														9			13		0	0	0.000422831	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83351247	83351247	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:83351247G>A	uc004eej.2	-	19	1962	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	RPS6KA6_uc011mqt.2_Silent_p.F642F|RPS6KA6_uc011mqu.2_Silent_p.F539F	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	642	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CACTCAAAGAGAATTTTCCAT	0.348000														2			37		0	0	0.00148497	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398923	90398923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:90398923C>T	uc021opq.1	+	0	296	c.296C>T	c.(295-297)tCc>tTc	p.S99F	LRRC8D_uc001dnm.3_Missense_Mutation_p.S99F|LRRC8D_uc001dnn.3_Missense_Mutation_p.S99F	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	99						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AACGACATTTCCTTTGGGACA	0.498000														4			10		0	0	0.000673444	0	0
ARAP2	116984	broad.mit.edu	37	4	36069787	36069787	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:36069787C>T	uc003gsq.2	-	32	5195	c.4857G>A	c.(4855-4857)aaG>aaA	p.K1619K	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1619					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTTATCGTCCTTGTGCTCCA	0.512000														69			51		0	0	0.000781405	0	0
OTOGL	283310	broad.mit.edu	37	12	80749695	80749695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:80749695G>A	uc001szd.3	+	45	5752	c.5746G>A	c.(5746-5748)Gat>Aat	p.D1916N	OTOGL_uc021rba.1_5'Flank|OTOGL_uc009zsg.2_5'Flank	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGGCATCATTGATAAATGGAC	0.398000														124			108		0	0	0.000781405	0	0
MAG	4099	broad.mit.edu	37	19	35801484	35801484	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:35801484C>T	uc002nyy.2	+	8	1752	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	MAG_uc002nyx.2_Silent_p.G518G|MAG_uc010eds.2_Silent_p.G493G|MAG_uc002nyz.2_Silent_p.G518G	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	518					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCTGTGGGCGCCGTGGTCG	0.587000														21			21		0	0	0.000878237	0	0
ACD	65057	broad.mit.edu	37	16	67694229	67694229	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:67694229G>A	uc002etq.4	-	0	490	c.153C>T	c.(151-153)ctC>ctT	p.L51L	ACD_uc002etp.4_Silent_p.L51L|ACD_uc002etr.4_Silent_p.L51L|ACD_uc010vjt.1_Silent_p.L41L|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGCCGGAGGAGGAGGCCCC	0.751000														2			6		0	0	0.00116845	0	0
CDC25B	994	broad.mit.edu	37	20	3779075	3779075	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:3779075C>T	uc002wjn.3	+	2	1123	c.345C>T	c.(343-345)tcC>tcT	p.S115S	CDC25B_uc010zqk.2_Silent_p.S51S|CDC25B_uc010zql.2_Silent_p.S37S|CDC25B_uc010zqm.2_Silent_p.S51S|CDC25B_uc002wjl.3_Silent_p.S3S|CDC25B_uc002wjm.3_Silent_p.S3S|CDC25B_uc021waa.1_Silent_p.S3S|CDC25B_uc002wjo.3_Silent_p.S101S|CDC25B_uc002wjp.3_Silent_p.S115S|CDC25B_uc002wjq.3_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	115					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCATGGATTCCCCCAGCCCTA	0.478000														68			50		0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141754626	141754626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:141754626C>T	uc003vwy.3	+	26	3286	c.3232C>T	c.(3232-3234)Cct>Tct	p.P1078S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1078	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCCAGCACCCCTGAGGGTCA	0.448000														64			117		0	0	0.000781405	0	0
AUTS2	26053	broad.mit.edu	37	7	69364456	69364456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:69364456G>A	uc003tvw.4	+	1	1229	c.494G>A	c.(493-495)aGa>aAa	p.R165K	AUTS2_uc003tvv.4_Missense_Mutation_p.R165K|AUTS2_uc003tvx.4_Missense_Mutation_p.R165K	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	165										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTTGGGAAGAGAAAGAAAATG	0.517000														38			64		0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141758123	141758123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:141758123C>T	uc003vwy.3	+	30	3868	c.3814C>T	c.(3814-3816)Cct>Tct	p.P1272S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1272	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCCCAGATCCCTTATGTACG	0.478000														92			153		0	0	0.000781405	0	0
PROM2	150696	broad.mit.edu	37	2	95947945	95947945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:95947945G>A	uc002suk.3	+	13	1832	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	PROM2_uc002suh.2_Missense_Mutation_p.D567N|PROM2_uc002sui.3_Missense_Mutation_p.D567N|PROM2_uc002suj.3_Missense_Mutation_p.D221N|PROM2_uc002sul.3_Missense_Mutation_p.D93N|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	567						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.Y566C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGACTCCTACGACCTGGAGGA	0.592000														13			10		0	0	0.00136819	0	0
CD163	9332	broad.mit.edu	37	12	7640469	7640469	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:7640469G>A	uc001qsz.3	-	6	1763	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	CD163_uc001qta.3_Silent_p.F545F|CD163_uc009zfw.2_Silent_p.F545F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	545	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTCACACTGGAATTCTTCAG	0.532000														34			29		0	0	0.00106085	0	0
OR1N2	138882	broad.mit.edu	37	9	125316283	125316283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:125316283C>T	uc011lyx.2	+	0	835	c.835C>T	c.(835-837)Cct>Tct	p.P279S		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTATTTACTTCCTCCATCAAC	0.463000														56			43		0	0	0.000680045	0	0
CIITA	4261	broad.mit.edu	37	16	10996615	10996615	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:10996615C>T	uc002daj.4	+	7	865	c.732C>T	c.(730-732)atC>atT	p.I244I	CIITA_uc002dai.4_Silent_p.I243I|CIITA_uc002dak.4_Silent_p.I194I|CIITA_uc002dag.2_Silent_p.I243I|CIITA_uc002dah.2_Silent_p.I195I|CIITA_uc010bup.1_Silent_p.I243I	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	243					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTGGCAAATCTCTGAGGCTG	0.587000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									36			30		0	0	0.001512	0	0
PTPRD	5789	broad.mit.edu	37	9	8341932	8341932	+	Silent	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:8341932A>G	uc003zkk.3	-	39	5451	c.4708T>C	c.(4708-4710)Tta>Cta	p.L1570L	PTPRD_uc003zkp.3_Silent_p.L1164L|PTPRD_uc003zkq.3_Silent_p.L1163L|PTPRD_uc003zkr.3_Silent_p.L1154L|PTPRD_uc003zks.3_Silent_p.L1163L|PTPRD_uc022bdj.1_Silent_p.L1160L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1570	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTCTTTCTAACATGGCATCT	0.378000										TSP Lung(15;0.13)				2			24		0	0	0.00278032	0	0
CDR2	1039	broad.mit.edu	37	16	22385600	22385600	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:22385600C>A	uc002dkn.3	-	0	339	c.31G>T	c.(31-33)Gag>Tag	p.E11*		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	11						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCCTTCATCTCAAACTCCTCT	0.736000														46			38		1.02591e-13	3.54529e-13	0.0025221	1	0
DNAJC18	202052	broad.mit.edu	37	5	138773084	138773084	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:138773084C>T	uc003len.3	-	1	284	c.204G>A	c.(202-204)gaG>gaA	p.E68E	DNAJC18_uc010jff.3_Silent_p.E68E	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	68					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAGCTGTTCCTCACTATACG	0.473000														1			19		0	0	0.000958276	0	0
NRXN1	9378	broad.mit.edu	37	2	50280423	50280423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:50280423C>T	uc021vhh.1	-	18	4945	c.4024G>A	c.(4024-4026)Gaa>Aaa	p.E1342K	NRXN1_uc010fbp.3_Missense_Mutation_p.E307K|NRXN1_uc002rxb.4_Missense_Mutation_p.E1044K|NRXN1_uc021vhg.1_Missense_Mutation_p.E1412K|NRXN1_uc021vhi.1_Missense_Mutation_p.E1408K|NRXN1_uc021vhj.1_Missense_Mutation_p.E1338K	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1342					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTAATGGGTTCTTTTGTCGGG	0.438000														73			39		0	0	0.00195071	0	0
VPS13D	55187	broad.mit.edu	37	1	12566992	12566992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:12566992G>A	uc001atv.3	+	68	13021	c.12880G>A	c.(12880-12882)Gat>Aat	p.D4294N	VPS13D_uc001atw.3_Missense_Mutation_p.D4269N|VPS13D_uc001atx.3_Missense_Mutation_p.D3481N|VPS13D_uc009vnl.3_Non-coding_Transcript|VPS13D_uc010obd.2_Missense_Mutation_p.D292N|SNORA59B_uc001atz.1_5'Flank|VPS13D_uc021ogj.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	4293					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)		AGACTACGTGGATCGAGAAGC	0.488000														34			31		0	0	0.001512	0	0
TXK	7294	broad.mit.edu	37	4	48116367	48116367	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:48116367C>T	uc003gxx.4	-	1	155	c.69G>A	c.(67-69)aaG>aaA	p.K23K	TXK_uc003gxy.1_Silent_p.K23K	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	23						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGACTTACCGCTTCTGCACTG	0.433000														21			23		0	0	0.00278032	0	0
CMYA5	202333	broad.mit.edu	37	5	79031658	79031658	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:79031658G>A	uc003kgc.3	+	1	7142	c.7070G>A	c.(7069-7071)tGg>tAg	p.W2357*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2357						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)		CCATCTAAATGGAATATTTCT	0.373000														5			15		0	0	0.00244969	0	0
UPK3B	80761	broad.mit.edu	37	7	76144447	76144447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:76144447C>T	uc003ufq.3	+	3	1067	c.842C>T	c.(841-843)cCc>cTc	p.P281L	UPK3B_uc003ufo.3_Missense_Mutation_p.P253S|UPK3B_uc010ldk.1_Missense_Mutation_p.P226L	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	281					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCACCACATCCCACCCAGAGA	0.706000														8			6		0	0	0.00116845	0	0
CEACAM1	634	broad.mit.edu	37	19	43031300	43031300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:43031300G>A	uc002otv.3	-	1	452	c.317C>T	c.(316-318)tCc>tTc	p.S106F	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.S106F|CEACAM1_uc002otw.3_Missense_Mutation_p.S106F|CEACAM1_uc002otx.3_Missense_Mutation_p.S106F|CEACAM1_uc002oty.3_Missense_Mutation_p.S106F|CEACAM1_uc002otz.3_Missense_Mutation_p.S106F|CEACAM1_uc010eik.3_Missense_Mutation_p.S106F|CEACAM1_uc002oua.3_Missense_Mutation_p.S106F|CEACAM1_uc002oub.3_Missense_Mutation_p.S106F|CEACAM1_uc002ouc.3_Missense_Mutation_p.S106F	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	106	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GATCAGCAGGGATGCATTGGG	0.478000														239			20		0	0	0.00278032	0	0
APOB	338	broad.mit.edu	37	2	21225528	21225528	+	Missense_Mutation	SNP	C	T	T	rs61743313	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:21225528C>T	uc002red.3	-	28	12894	c.12766G>A	c.(12766-12768)Gag>Aag	p.E4256K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4256					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCTTAACTCGAAAGGAAGT	0.378000														312			261		0	0	0.000781405	0	0
DPYS	1807	broad.mit.edu	37	8	105463604	105463604	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:105463604A>T	uc003yly.4	-	1	422	c.293T>A	c.(292-294)aTt>aAt	p.I98N		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	98					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAAATCAATAATCATGGTGGT	0.453000														27			25		0	0	0.00127121	0	0
AP2A1	160	broad.mit.edu	37	19	50303023	50303023	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:50303023C>T	uc002ppn.3	+	10	1483	c.1272_splice	c.e10+1	p.I424_splice	AP2A1_uc010enj.1_Splice_Site|AP2A1_uc002ppo.3_Splice_Site_p.I424_splice|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	424					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCGAGGAGATCGTGAGTGCTG	0.632000														9			8		0	0	0.000442599	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177402	39177402	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:39177402G>A	uc004abi.3	-	5	1079	c.840C>T	c.(838-840)ctC>ctT	p.L280L	CNTNAP3_uc004abj.3_Silent_p.L280L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.L280L|CNTNAP3_uc011lqs.1_Silent_p.L280L	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	280	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTGCGTGTCGAGGAGCTCGA	0.498000														6			42		0	0	0.00222228	0	0
EPPK1	83481	broad.mit.edu	37	8	144940344	144940344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144940344C>T	uc003zaa.1	-	0	7091	c.7078G>A	c.(7078-7080)Gac>Aac	p.D2360N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2360						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGGCCACGTCCACGGGCACG	0.692000														376			13		0	0	0.000422831	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67478594	67478594	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:67478594G>A	uc010vjo.1	-	3	541	c.441C>T	c.(439-441)atC>atT	p.I147I	ATP6V0D1_uc002ete.1_Silent_p.I106I|ATP6V0D1_uc010vjn.1_Silent_p.I29I	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	106					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCACGTTGTCGATCATGTAAC	0.612000														8			5		0	0	0.000602214	0	0
GFRAL	389400	broad.mit.edu	37	6	55192369	55192369	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:55192369T>G	uc003pcm.1	+	0	103	c.17T>G	c.(16-18)tTc>tGc	p.F6C		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	6						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGTTTATTTTCTTGGGTAAG	0.368000														51			41		0	0	0.000781405	0	0
LOC399753	399753	broad.mit.edu	37	10	49218371	49218371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:49218371G>A	uc001jgd.3	-	7	1927	c.1768C>T	c.(1768-1770)Cat>Tat	p.H590Y	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		CAGGCCAGATGGAGTGCCGTG	0.647000														39			28		0	0	0.000692331	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966957	7966957	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:7966957C>T	uc010sgh.2	-	9	1584	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	SLC2A14_uc001qtk.3_Silent_p.G506G|SLC2A14_uc001qtl.3_Silent_p.G483G|SLC2A14_uc001qtm.3_Silent_p.G483G|SLC2A14_uc010sgg.2_Silent_p.G397G|SLC2A14_uc001qtn.3_Silent_p.G506G|SLC2A14_uc001qto.3_Silent_p.G141G	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	506					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGCTGTTCATCCCCATGACGC	0.572000														77			19		0	0	0.000692331	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184692	72184692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:72184692C>T	uc002fcc.4	-	4	623	c.451G>A	c.(451-453)Gag>Aag	p.E151K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E151K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.E6K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	151										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTGTGTTCTCGTTGTGATTT	0.502000														53			35		0	0	0.00222228	0	0
YIPF1	54432	broad.mit.edu	37	1	54344369	54344369	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:54344369G>A	uc001cvu.3	-	4	593	c.222C>T	c.(220-222)tcC>tcT	p.S74S	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	74						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TCCAGAAGGGGGAGCTTTTCT	0.408000														39			16		0	0	0.000566183	0	0
HYDIN	54768	broad.mit.edu	37	16	70917856	70917856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:70917856G>A	uc002ezr.3	-	58	10094	c.9943C>T	c.(9943-9945)Ctt>Ttt	p.L3315F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3316										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGTGTAAAGAATGCCGGCA	0.527000														33			22		0	0	0.00106085	0	0
COL2A1	1280	broad.mit.edu	37	12	48379540	48379540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:48379540G>A	uc001rqu.3	-	24	1832	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P482S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	551	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTTCTCCAGGACGGCCAGGG	0.647000														13			16		0	0	0.000958276	0	0
ITIH3	3699	broad.mit.edu	37	3	52836375	52836375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:52836375C>T	uc003dfv.2	+	11	1445	c.1409C>T	c.(1408-1410)cCa>cTa	p.P470L	ITIH3_uc011bek.1_Missense_Mutation_p.P470L	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	470					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTGGCCAACCCACTGCTGACG	0.592000														22			11		0	0	0.000422831	0	0
GCOM1	145781	broad.mit.edu	37	15	57910309	57910309	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:57910309C>T	uc002aei.3	+	2	372	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	GCOM1_uc002aej.3_Nonsense_Mutation_p.Q81*|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Nonsense_Mutation_p.Q81*|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Nonsense_Mutation_p.Q81*	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	81					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGATCAGATCAAAATCAGCA	0.423000														23			19		0	0	0.000958276	0	0
BPI	671	broad.mit.edu	37	20	36953197	36953197	+	Nonsense_Mutation	SNP	C	T	T	rs150749170		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:36953197C>T	uc002xib.2	+	8	1029	c.967C>T	c.(967-969)Cga>Tga	p.R323*		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	323					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCCAAATTTCGACTGACAAC	0.512000														44			26		0	0	0.000814825	0	0
THEMIS	387357	broad.mit.edu	37	6	128135017	128135017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:128135017C>T	uc011ebt.2	-	3	918	c.769G>A	c.(769-771)Gat>Aat	p.D257N	THEMIS_uc010kfa.3_Missense_Mutation_p.D160N|THEMIS_uc021zfa.1_Missense_Mutation_p.D257N|THEMIS_uc010kfb.3_Missense_Mutation_p.D222N	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	257	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGTAAGAATCAGTGATGTCT	0.353000														80			57		0	0	0.000781405	0	0
DHRS9	10170	broad.mit.edu	37	2	169938290	169938290	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:169938290A>C	uc010zdc.2	+	1	491	c.379A>C	c.(379-381)Aca>Cca	p.T127P	DHRS9_uc002uep.3_Missense_Mutation_p.T67P|DHRS9_uc002ueq.3_Missense_Mutation_p.T67P|DHRS9_uc002uer.1_Missense_Mutation_p.T67P|DHRS9_uc010zdd.2_Missense_Mutation_p.T67P|DHRS9_uc010zde.2_Missense_Mutation_p.T67P	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	67					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATCAGGATCAACAGCTTTAAA	0.473000														44			33		0	0	0.00209593	0	0
C15orf32	145858	broad.mit.edu	37	15	93043589	93043589	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:93043589G>A	uc002brc.1	+	3	967	c.495_splice	c.e3-1	p.W165_splice	C15orf32_uc010bod.1_Splice_Site	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	165										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CCTTTTTAGGGAACATTTAAT	0.473000														56			40		0	0	0.00285205	0	0
MIR520G	574484	broad.mit.edu	37	19	54225433	54225433	+	RNA	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:54225433C>T	uc021vaj.1	+	0		c.14C>T								Homo sapiens microRNA 520g (MIR520G), microRNA.																		CATGCTGTGACCCTCTAGAGG	0.408000														64			34		0	0	0.000953801	0	0
DLG2	1740	broad.mit.edu	37	11	83170956	83170956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:83170956C>T	uc001paj.2	-	22	2821	c.2518G>A	c.(2518-2520)Gga>Aga	p.G840R	DLG2_uc001pai.2_Missense_Mutation_p.G719R|DLG2_uc010rsy.1_Missense_Mutation_p.G789R|DLG2_uc021qof.1_Missense_Mutation_p.G879R|DLG2_uc010rsz.1_Missense_Mutation_p.G836R|DLG2_uc010rta.1_Missense_Mutation_p.G822R|DLG2_uc001pak.2_Missense_Mutation_p.G945R|DLG2_uc010rsx.1_Missense_Mutation_p.G317R|DLG2_uc010rsw.1_Missense_Mutation_p.G304R	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	840	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAGTATCTCCTTGGACAATA	0.358000														3			41		0	0	0.00148497	0	0
POTEG	404785	broad.mit.edu	37	14	19553777	19553777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:19553777G>A	uc001vuz.1	+	0	413	c.361G>A	c.(361-363)Gga>Aga	p.G121R	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	121								p.W120L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCCCTTGGGGAGACTACGA	0.602000														360			52		0	0	0.000781405	0	0
NEGR1	257194	broad.mit.edu	37	1	72241933	72241933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:72241933C>T	uc001dfw.3	-	2	685	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_uc001dfv.3_Missense_Mutation_p.G25R|NEGR1_uc010oqs.2_Missense_Mutation_p.G153R	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	153	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane		p.E152D(1)		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)		ACGTTGGTTCCTTCATTGACG	0.388000														21			10		0	0	0.000673444	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260760	42260760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:42260760C>T	uc002orm.2	+	1	466	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	106	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCAATGCATCCCTGCTGATC	0.463000														262			18		0	0	0.00127121	0	0
KIAA1524	57650	broad.mit.edu	37	3	108279545	108279545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:108279545G>A	uc003dxb.4	-	13	2047	c.1778C>T	c.(1777-1779)cCt>cTt	p.P593L	KIAA1524_uc010hpv.1_3'UTR	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	593						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTCAATCCAGGAACACCATC	0.343000														86			67		0	0	0.000781405	0	0
TTLL2	83887	broad.mit.edu	37	6	167755012	167755012	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:167755012C>T	uc003qvs.1	+	2	1712	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	542					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCGTGTGTCCTGTCAGACCG	0.537000														44			31		0	0	0.0024448	0	0
ASTN2	23245	broad.mit.edu	37	9	119625875	119625875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:119625875G>A	uc004bjt.2	-	9	1975	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F	ASTN2_uc022bml.1_Missense_Mutation_p.S321F|ASTN2_uc022bmm.1_Missense_Mutation_p.S325F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	676						integral to membrane		p.S625Y(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACATCCCGAGGAATCCACCTG	0.607000														33			24		0	0	0.000720815	0	0
SSTR3	6753	broad.mit.edu	37	22	37602744	37602745	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:37602744_37602745CC>TT	uc003ara.3	-	1	1160_1161	c.1098_1099GG>AA	c.(1096-1101)aagggg>aaAAgg	p.G367R	SSTR3_uc003arb.3_Missense_Mutation_p.G367R|SSTR3_uc021wos.1_Missense_Mutation_p.G367R	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	367					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						ATCTCCTTCCCCTTGCCCCCCT	0.693000														13			14		0	0	6.4e-05	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs60608267	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(18)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000														34			5		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179495596C>T	uc021vsy.1	-	186	36610	c.36385G>A	c.(36385-36387)Gaa>Aaa	p.E12129K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5824K|TTN_uc021vta.1_Missense_Mutation_p.E5757K|TTN_uc021vtb.1_Missense_Mutation_p.E5632K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13056	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGAGATTTCGGTTTCAAAG	0.493000														47			50		0	0	0.000781405	0	0
EPB41L3	23136	broad.mit.edu	37	18	5395630	5395630	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:5395630G>C	uc002kmt.1	-	19	3136	c.3050C>G	c.(3049-3051)aCc>aGc	p.T1017S	EPB41L3_uc010wzh.1_Missense_Mutation_p.T848S|EPB41L3_uc002kmu.1_Missense_Mutation_p.T795S|EPB41L3_uc010dkq.1_Missense_Mutation_p.T686S|EPB41L3_uc002kms.1_Missense_Mutation_p.T252S|EPB41L3_uc010wze.1_Missense_Mutation_p.T322S|EPB41L3_uc010wzf.1_Missense_Mutation_p.T314S|EPB41L3_uc010wzg.1_Missense_Mutation_p.T289S|EPB41L3_uc010dkr.2_Missense_Mutation_p.T409S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1017	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.T1016T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CGTAGTGGTGGTGGTACTGGT	0.537000														11			78		0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55540733	55540733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:55540733G>A	uc003xsd.1	+	3	4439	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1431					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1431K(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTCAGGATGAAAATGCATA	0.373000														27			12		0	0	0.00244969	0	0
RELN	5649	broad.mit.edu	37	7	103191669	103191669	+	Silent	SNP	C	T	T	rs116750302	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:103191669C>T	uc022ajr.1	-	40	6307	c.6147G>A	c.(6145-6147)gcG>gcA	p.A2049A	RELN_uc022ajq.1_Silent_p.A2049A|RELN_uc010liz.3_Silent_p.A2049A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2049					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGCCAGGTCGCCCCGAAGT	0.547000														16			33		0	0	0.00170553	0	0
IFT140	9742	broad.mit.edu	37	16	1634239	1634239	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:1634239G>A	uc002cmb.3	-	10	1700	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	IFT140_uc002clz.3_Silent_p.I97I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	446										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACACTCCACTGATGTGCATGT	0.627000														11			19		0	0	0.00152264	0	0
PRDM16	63976	broad.mit.edu	37	1	3350340	3350340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:3350340G>A	uc001akf.3	+	16	3878	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K	PRDM16_uc001ake.3_Missense_Mutation_p.E1247K|PRDM16_uc009vlh.3_Missense_Mutation_p.E966K|PRDM16_uc001akc.3_Missense_Mutation_p.E1246K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1266	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCACGTCGGAGTCTGGAGC	0.642000			T	EVI1	"""MDS, AML"""									48			45		0	0	0.000781405	0	0
PRDM9	56979	broad.mit.edu	37	5	23509604	23509604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:23509604C>T	uc003jgo.3	+	2	277	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	32	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S32T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGACATTTCCATATACTTC	0.413000										HNSCC(3;0.000094)				183			68		0	0	0.000781405	0	0
CERKL	375298	broad.mit.edu	37	2	182409513	182409513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:182409513C>T	uc002unx.3	-	11	1458	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.G427R|CERKL_uc010zfm.2_Missense_Mutation_p.G409R|CERKL_uc002unz.3_Missense_Mutation_p.G175R|CERKL_uc002uoa.3_Missense_Mutation_p.G358R|CERKL_uc002uob.3_Missense_Mutation_p.G175R|CERKL_uc002uoc.3_Missense_Mutation_p.G314R|CERKL_uc021vth.1_Missense_Mutation_p.G222R|CERKL_uc021vti.1_Missense_Mutation_p.G175R|CERKL_uc021vtj.1_Missense_Mutation_p.G130R|CERKL_uc021vtk.1_Missense_Mutation_p.G175R|CERKL_uc021vtl.1_Missense_Mutation_p.G130R|CERKL_uc021vtm.1_Missense_Mutation_p.G222R|CERKL_uc002uod.2_Missense_Mutation_p.G222R|CERKL_uc002unw.3_Missense_Mutation_p.G23R	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	453					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCCATACTTCCATTATTTAAT	0.284000														21			11		0	0	0.00136819	0	0
NAV3	89795	broad.mit.edu	37	12	78573376	78573376	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:78573376G>C	uc001syp.3	+	28	5604	c.5431G>C	c.(5431-5433)Gaa>Caa	p.E1811Q	NAV3_uc001syo.3_Missense_Mutation_p.E1789Q|NAV3_uc010sub.2_Missense_Mutation_p.E1268Q|NAV3_uc009zsf.3_Missense_Mutation_p.E620Q	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1811						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1810L(1)|p.E1789K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGAGAAAAGGAATTAAAATT	0.483000										HNSCC(70;0.22)				46			33		0	0	0.00058488	0	0
OR4N2	390429	broad.mit.edu	37	14	20296087	20296087	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:20296087G>A	uc010tkv.2	+	0	480	c.480G>A	c.(478-480)gtG>gtA	p.V160V		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATCCAGGTGGTCCTCATCC	0.532000														78			58		0	0	0.000781405	0	0
NEFH	4744	broad.mit.edu	37	22	29885119	29885119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:29885119G>A	uc003afo.3	+	3	1561	c.1490G>A	c.(1489-1491)gGa>gAa	p.G497E	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	497	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						gcagaagggggagaagaagAA	0.542000														17			11		0	0	0.000673444	0	0
LOC440563	440563	broad.mit.edu	37	1	13183507	13183507	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:13183507C>T	uc010obg.2	-	1	609	c.366G>A	c.(364-366)ggG>ggA	p.G122G		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	122						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										AACTGTACATCCCATCATAAT	0.522000														73			14		0	0	0.00074312	0	0
FGF12	2257	broad.mit.edu	37	3	191861816	191861816	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:191861816C>T	uc003fsx.3	-	4	1540	c.714G>A	c.(712-714)gtG>gtA	p.V238V	FGF12_uc003fsy.3_Silent_p.V176V	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	238				TPTMNGGKVVNQDST -> HHHDGGKL (in Ref. 2; AAB18786).	JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AATCTTGATTCACAACTTTGC	0.443000														83			65		0	0	0.000781405	0	0
CAPN13	92291	broad.mit.edu	37	2	30964797	30964797	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:30964797T>A	uc021vfn.1	-	13	1545	c.1513A>T	c.(1513-1515)Att>Ttt	p.I505F	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.I501F|CAPN13_uc002rno.3_Missense_Mutation_p.I59F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	505					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CTGTTGAAAATGCTTTGTTGG	0.527000														26			22		0	0	0.000586117	0	0
SORCS2	57537	broad.mit.edu	37	4	7705995	7705995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:7705995G>A	uc003gkb.4	+	13	1852	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SORCS2_uc011bwi.2_Missense_Mutation_p.E446K	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	618						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCAGGGGACGAGACGCTGGT	0.657000														6			5		0	0	0.00116845	0	0
KLHL30	377007	broad.mit.edu	37	2	239057733	239057733	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:239057733C>T	uc002vxr.2	+	6	1532	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	475										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCTCTACCTCATTGGGGACA	0.657000														16			15		0	0	0.00074312	0	0
COL1A2	1278	broad.mit.edu	37	7	94054461	94054461	+	Silent	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:94054461T>C	uc003ung.1	+	41	3177	c.2706T>C	c.(2704-2706)ccT>ccC	p.P902P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	902					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTGCCGGCCCTCCTGGGGCCC	0.532000										HNSCC(75;0.22)				39			40		0	0	0.000781405	0	0
ACTN4	81	broad.mit.edu	37	19	39215191	39215191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:39215191C>T	uc002oja.2	+	15	2115	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ACTN4_uc021uug.1_Nonsense_Mutation_p.Q447*	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	666					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCTGGATCCAGACCAAGAT	0.662000														38			23		0	0	0.00127121	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	A	A	rs140332483		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:55846490G>A	uc001sgz.1	+	0	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000														73			46		0	0	0.000781405	0	0
ILDR1	286676	broad.mit.edu	37	3	121712468	121712468	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:121712468G>A	uc003ees.3	-	6	1331	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	ILDR1_uc003eeq.3_Silent_p.F344F|ILDR1_uc003eer.3_Silent_p.F332F|ILDR1_uc010hrg.3_Silent_p.F287F	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	376						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)		GCTCCTGGTGGAAATCAGGGT	0.602000														12			33		0	0	0.000692331	0	0
MGST1	4257	broad.mit.edu	37	12	16510602	16510602	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:16510602C>T	uc001rdh.3	+	2	333	c.190C>T	c.(190-192)Cga>Tga	p.R64*	MGST1_uc001rdf.3_Nonsense_Mutation_p.R64*|MGST1_uc001rdg.3_Nonsense_Mutation_p.R64*|MGST1_uc009zih.1_Non-coding_Transcript|MGST1_uc001rdi.3_Nonsense_Mutation_p.R64*	NM_145791	NP_665735	P10620	MGST1_HUMAN	Homo sapiens microsomal glutathione S-transferase 1 (MGST1), transcript variant 1c, mRNA.	64					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	GAAGTATCTTCGAACAGATGA	0.358000														15			7		0	0	0.000157383	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665929	8665929	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:8665929C>T	uc002mkj.1	-	5	967	c.693G>A	c.(691-693)ctG>ctA	p.L231L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	231					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCGATCGCTTCAGGCCTGGCT	0.637000														31			33		0	0	0.000814825	0	0
ZNF208	7757	broad.mit.edu	37	19	22156318	22156318	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:22156318G>A	uc021urr.1	-	3	1667	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.E506E(1)		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)				AGGACCAGTTGAAAGCTTTGC	0.388000														36			10		0	0	0.00185496	0	0
EPPK1	83481	broad.mit.edu	37	8	144940451	144940451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144940451G>A	uc003zaa.1	-	0	6984	c.6971C>T	c.(6970-6972)gCc>gTc	p.A2324V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2324						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCTGCATGGCCTGGAAGAG	0.697000														266			13		0	0	0.000566183	0	0
SOGA3	387104	broad.mit.edu	37	6	127796803	127796803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:127796803G>A	uc003qbd.3	-	5	3233	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	790						integral to membrane		p.R790C(1)									GTGAGGCAGCGGATGTTGCGC	0.701000														21			21		0	0	0.00229938	0	0
MAPK13	5603	broad.mit.edu	37	6	36107085	36107085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:36107085G>A	uc003ols.3	+	11	1131	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	345					Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CATCTACAAGGAGATTGTGAA	0.567000														35			29		0	0	0.001512	0	0
BAZ2B	29994	broad.mit.edu	37	2	160268984	160268984	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:160268984T>C	uc002uao.3	-	13	2944	c.2539A>G	c.(2539-2541)Aga>Gga	p.R847G	BAZ2B_uc002uap.3_Missense_Mutation_p.R811G|BAZ2B_uc002uaq.1_Missense_Mutation_p.R677G|BAZ2B_uc002uar.1_Missense_Mutation_p.R420G	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	847	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGGTGGTCTTCCTCTACGA	0.418000														18			15		0	0	0.00244969	0	0
ZNF160	90338	broad.mit.edu	37	19	53572698	53572698	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:53572698A>T	uc010eqk.3	-	6	1505	c.1089T>A	c.(1087-1089)caT>caA	p.H363Q	ZNF160_uc002qaq.4_Missense_Mutation_p.H363Q|ZNF160_uc002qar.4_Missense_Mutation_p.H363Q	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	363					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCTCCAGTATGAATTAACT	0.388000														40			45		0	0	0.00222228	0	0
ACP2	53	broad.mit.edu	37	11	47269227	47269227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:47269227G>A	uc001nei.3	-	2	379	c.262C>T	c.(262-264)Cac>Tac	p.H88Y	ACP2_uc010rhe.2_Missense_Mutation_p.H60Y|ACP2_uc009ylj.3_Missense_Mutation_p.H16Y|ACP2_uc010rhf.2_Missense_Mutation_p.H56Y|ACP2_uc010rhg.2_Missense_Mutation_p.H88Y|ACP2_uc010rhh.2_5'UTR|ACP2_uc009ylk.2_Missense_Mutation_p.H88Y|ACP2_uc010rhi.1_5'UTR|ACP2_uc010rhj.1_Missense_Mutation_p.H88Y|NR1H3_uc010rhk.2_5'Flank|NR1H3_uc009yll.2_5'Flank|NR1H3_uc001nek.3_5'Flank	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	88						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						AGGAAGCCGTGATAGCGCTGC	0.587000														4			50		0	0	0.000781405	0	0
PRKDC	5591	broad.mit.edu	37	8	48740752	48740752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:48740752G>A	uc003xqi.3	-	62	8608	c.8551C>T	c.(8551-8553)Cca>Tca	p.P2851S	PRKDC_uc003xqj.3_Missense_Mutation_p.P2851S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2852	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACAAAGGGTGGAAAGAAAGAG	0.363000								Non-homologous end-joining						28			16		0	0	0.000566183	0	0
FAM83H	286077	broad.mit.edu	37	8	144812588	144812588	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144812588G>A	uc003yzk.3	-	1	234	c.165C>T	c.(163-165)ttC>ttT	p.F55F	FAM83H_uc022bch.1_Silent_p.F55F	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	55					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGCACAGGAAGTCTGGTG	0.622000														35			28		0	0	0.00127121	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835842	12835842	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:12835842C>T	uc001aui.3	+	1	471	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	148										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGGTGATCCTAGACCTTT	0.547000														55			49		0	0	0.000781405	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000														36			4		0	0	0.00116845	0	0
FSTL4	23105	broad.mit.edu	37	5	132535121	132535121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:132535121G>A	uc003kyn.1	-	15	2413	c.2195C>T	c.(2194-2196)tCg>tTg	p.S732L	FSTL4_uc003kym.1_Missense_Mutation_p.S381L	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	732						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGATGCCCGAGTTTATTTG	0.572000														2			25		0	0	0.00127121	0	0
DKK1	22943	broad.mit.edu	37	10	54076090	54076091	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:54076090_54076091GG>AA	uc001jjr.3	+	2	596_597	c.442_443GG>AA	c.(442-444)gga>AAa	p.G148K	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	148					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TCATTTCCGAGGAGAAATTGAG	0.396000														0			23		0	0	6.4e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82457228	82457228	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:82457228C>T	uc003uhx.2	-	16	14593	c.14304G>A	c.(14302-14304)tgG>tgA	p.W4768*	PCLO_uc003uhv.2_Nonsense_Mutation_p.W4768*|PCLO_uc003uht.1_Nonsense_Mutation_p.W210*|PCLO_uc003uhu.1_Nonsense_Mutation_p.W189*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTTTGATTCCACTCAGGAT	0.333000														18			20		0	0	0.00278032	0	0
HECW2	57520	broad.mit.edu	37	2	197298137	197298137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:197298137G>A	uc002utm.1	-	1	194	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	4					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCCCGGGCTGAACTAGCCAT	0.512000														21			14		0	0	0.000308642	0	0
SCN10A	6336	broad.mit.edu	37	3	38798227	38798227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:38798227C>T	uc003ciq.3	-	8	1228	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	410					sensory perception	voltage-gated sodium channel complex		p.E410Q(2)|p.D409Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTTCAATTTCATCAGTGGTT	0.498000														63			70		0	0	0.000781405	0	0
ZNF616	90317	broad.mit.edu	37	19	52619486	52619486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:52619486G>A	uc002pym.3	-	3	1214	c.931C>T	c.(931-933)Cat>Tat	p.H311Y	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTCTAAGATGGACACGCTGA	0.408000														49			23		0	0	0.00047179	0	0
ADAD1	132612	broad.mit.edu	37	4	123350868	123350868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:123350868C>T	uc003ieo.3	+	12	1937	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	ADAD1_uc003iep.3_Missense_Mutation_p.P558S|ADAD1_uc003ieq.3_Missense_Mutation_p.P551S	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	569	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTGAAATCTCCCTGCATAGA	0.333000														54			31		0	0	0.0024448	0	0
SYTL5	94122	broad.mit.edu	37	X	37979702	37979702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:37979702C>T	uc004ddx.3	+	13	2110	c.1754C>T	c.(1753-1755)cCa>cTa	p.P585L	SYTL5_uc004ddu.3_Missense_Mutation_p.P563L|SYTL5_uc004ddv.3_Missense_Mutation_p.P563L	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	563	C2 2.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTGATGCTTCCACCAGAACAA	0.433000														9			54		0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38690646	38690646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:38690646G>A	uc021yzh.1	+	1	170	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCTCTACGGAAGAGGCTGC	0.602000														14			8		0	0	0.000274275	0	0
CACNA1S	779	broad.mit.edu	37	1	201079333	201079333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:201079333G>A	uc001gvv.3	-	1	444	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	73					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCGGCATGGGCAGGTACACG	0.602000														90			43		0	0	0.000781405	0	0
ASUN	55726	broad.mit.edu	37	12	27067474	27067475	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:27067474_27067475GG>AA	uc001rhk.4	-	11	1822_1823	c.1285_1286CC>TT	c.(1285-1287)cct>TTt	p.P429F	ASUN_uc001rhj.4_Intron|ASUN_uc010sjk.2_Missense_Mutation_p.P328F	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	429					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GTCTAGAAAAGGAGTTAATCTG	0.347000														19			12		0	0	6.4e-05	0	0
OR52B2	255725	broad.mit.edu	37	11	6191110	6191110	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:6191110G>A	uc010qzy.2	-	0	447	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGATGACGGCCAGAGCAA	0.517000														3			23		0	0	0.00229938	0	0
ATR	545	broad.mit.edu	37	3	142215206	142215206	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:142215206G>A	uc003eux.4	-	33	6017	c.5895C>T	c.(5893-5895)tcC>tcT	p.S1965S		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1965	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCATTACCTTGGACCAGAGCC	0.363000								Other conserved DNA damage response genes						37			19		0	0	0.000958276	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84488747	84488747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:84488747G>A	uc002bjz.4	+	5	772	c.548G>A	c.(547-549)gGa>gAa	p.G183E	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.G183E|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G183E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	183						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTACTGGATGGAACTCGTTGC	0.532000														25			18		0	0	0.00074312	0	0
PASD1	139135	broad.mit.edu	37	X	150791487	150791487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:150791487G>A	uc004fev.4	+	6	829	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	166						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGAGGATCGGCTTTATCTT	0.502000														8			62		0	0	0.000781405	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032286	9032286	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:9032286G>A	uc003brf.1	-	20	3472	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S	SRGAP3_uc003brg.1_Silent_p.S908S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	932					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGTGCCCTTCGGAGAGCGCCT	0.652000			T	RAF1	pilocytic astrocytoma									11			5		0	0	0.000602214	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21955617	21955617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:21955617G>A	uc001uoa.2	-	10	1211	c.1013C>T	c.(1012-1014)tCt>tTt	p.S338F	ZDHHC20_uc001uod.3_Non-coding_Transcript|ZDHHC20_uc001uoc.3_Non-coding_Transcript|ZDHHC20_uc001uoe.3_Non-coding_Transcript|ZDHHC20_uc010tcs.2_Missense_Mutation_p.S276F	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN	Homo sapiens zinc finger, DHHC-type containing 20 (ZDHHC20), mRNA.	339						integral to membrane	acyltransferase activity|zinc ion binding	p.E338D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		CAGCCACTGAGATTCACTGTC	0.393000														21			7		0	0	0.000274275	0	0
HIPK1	204851	broad.mit.edu	37	1	114515766	114515766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:114515766C>T	uc001eem.3	+	15	3426	c.3265C>T	c.(3265-3267)Ccg>Tcg	p.P1089S	HIPK1_uc001een.3_Missense_Mutation_p.P1089S|HIPK1_uc001eeo.3_Missense_Mutation_p.P715S|HIPK1_uc001eep.3_Missense_Mutation_p.P695S|HIPK1_uc001eeq.3_Missense_Mutation_p.P381S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	1089	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATGGCAGCCCGCTACACTC	0.647000														43			31		0	0	0.00283554	0	0
LGALS12	85329	broad.mit.edu	37	11	63276333	63276333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:63276333C>T	uc001nxc.2	+	2	652	c.311C>T	c.(310-312)aCc>aTc	p.T104I	LGALS12_uc001nxa.2_Missense_Mutation_p.T103I|LGALS12_uc001nxb.2_Missense_Mutation_p.T103I|LGALS12_uc001nxd.2_Missense_Mutation_p.T42I|LGALS12_uc001nxe.2_Missense_Mutation_p.T42I|LGALS12_uc009yot.2_Missense_Mutation_p.T63I	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	103	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TTCCATACCACCAAGCCCCAT	0.622000														5			50		0	0	0.000781405	0	0
C14orf43	91748	broad.mit.edu	37	14	74196579	74196579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:74196579G>A	uc010tud.1	-	2	2106	c.1859C>T	c.(1858-1860)gCc>gTc	p.A620V	C14orf43_uc001xos.3_5'Flank|C14orf43_uc001xot.3_Missense_Mutation_p.A620V|C14orf43_uc001xou.3_Missense_Mutation_p.A620V|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GACGGGAGGGGCGATGAAAGT	0.632000														3			20		0	0	0.00278032	0	0
FILIP1	27145	broad.mit.edu	37	6	76022865	76022865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:76022865C>T	uc010kbe.3	-	5	3222	c.2692G>A	c.(2692-2694)Ggg>Agg	p.G898R	FILIP1_uc003phy.1_Missense_Mutation_p.G895R|FILIP1_uc003phz.3_Missense_Mutation_p.G796R|FILIP1_uc003pia.3_Missense_Mutation_p.G895R|FILIP1_uc003pib.1_Missense_Mutation_p.G647R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	895										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGGGTGCCCTGGACTGGAA	0.532000														60			39		0	0	0.00128727	0	0
ZNF786	136051	broad.mit.edu	37	7	148768085	148768085	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:148768085G>A	uc003wfh.2	-	3	1916	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	ZNF786_uc011kuk.1_Silent_p.F556F|ZNF786_uc003wfi.2_Silent_p.F507F	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	593					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)			CTGGGCACTGGAAGGGTCTCT	0.647000														7			21		0	0	0.00188189	0	0
INADL	10207	broad.mit.edu	37	1	62235087	62235087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:62235087G>A	uc001dab.3	+	4	631	c.517G>A	c.(517-519)Gca>Aca	p.A173T	INADL_uc009waf.1_Missense_Mutation_p.A173T|INADL_uc001daa.2_Missense_Mutation_p.A173T|INADL_uc001dad.3_5'Flank	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	173	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGGAGTGTAGCAGACAGGTG	0.398000														73			50		0	0	0.000781405	0	0
RNF165	494470	broad.mit.edu	37	18	44030303	44030303	+	Silent	SNP	C	T	T	rs146872731		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:44030303C>T	uc002lcb.1	+	4	711	c.660C>T	c.(658-660)ttC>ttT	p.F220F	RNF165_uc002lby.1_Silent_p.F153F|RNF165_uc010dnn.1_Silent_p.F16F	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	220							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AGCTTCACTTCCTTGCTCTCC	0.517000														1			27		0	0	0.001512	0	0
CCDC80	151887	broad.mit.edu	37	3	112356885	112356885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:112356885C>T	uc003dzf.3	-	1	2086	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	CCDC80_uc011bhv.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.3_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	623										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AAGGAGTCTTCGTTTGCCTTC	0.463000														74			69		0	0	0.000781405	0	0
MICALL2	79778	broad.mit.edu	37	7	1474304	1474304	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:1474304G>A	uc003skj.4	-	16	2790	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	MICALL2_uc003ski.4_Missense_Mutation_p.P367S	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	881						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCTTCCTCTGGAGGCCTAGGG	0.617000														32			55		0	0	0.000781405	0	0
SEC24A	10802	broad.mit.edu	37	5	134002605	134002605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:134002605C>T	uc003kzs.3	+	2	950	c.658C>T	c.(658-660)Cca>Tca	p.P220S	SEC24A_uc021ydr.1_Missense_Mutation_p.P220S|SEC24A_uc011cxu.2_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	220	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCCACCCCCAGTGAGGGC	0.522000														5			35		0	0	0.000953801	0	0
TTN	7273	broad.mit.edu	37	2	179650817	179650817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179650817C>T	uc021vsy.1	-	13	2353	c.2128G>A	c.(2128-2130)Gac>Aac	p.D710N	TTN_uc021vsz.1_Missense_Mutation_p.D664N|TTN_uc021vta.1_Missense_Mutation_p.D664N|TTN_uc021vtb.1_Missense_Mutation_p.D664N|TTN_uc002unb.2_Missense_Mutation_p.D710N|TTN_uc010frg.1_Missense_Mutation_p.D292N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	710							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGGCCTGGTCTACTGCAGCA	0.493000														20			23		0	0	0.00047179	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213290686	213290686	+	Silent	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:213290686T>C	uc010ptr.2	+	4	565	c.406T>C	c.(406-408)Tta>Cta	p.L136L	RPS6KC1_uc001hkd.3_Silent_p.L124L|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_5'UTR|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_Intron	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	136					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAGTTCTGAATTAATTGGTCC	0.328000														94			55		0	0	0.000781405	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37447441	37447441	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:37447441G>A	uc021ppc.1	+	15	1759	c.1660_splice	c.e15-1	p.A554_splice	ANKRD30A_uc001iza.1_Splice_Site_p.A554_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	610						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						AACCCATTTAGGCTACCTGCG	0.284000														13			61		0	0	0.000781405	0	0
ZNF155	7711	broad.mit.edu	37	19	44500877	44500877	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:44500877T>C	uc010xwt.1	+	5	1085	c.901T>C	c.(901-903)Tgt>Cgt	p.C301R	ZNF155_uc002oxy.1_Missense_Mutation_p.C290R|ZNF155_uc002oxz.1_Missense_Mutation_p.C290R	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	290						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S301*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACCATTCAAATGTGATATATG	0.393000														47			22		0	0	0.00188189	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895621	24895621	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:24895621G>A	uc001upj.3	+	3	778	c.717G>A	c.(715-717)ggG>ggA	p.G239G	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	239	C1q.					collagen	hormone activity	p.A238A(1)		endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CAGCAGCGGGGAAATTCACGT	0.418000														89			54		0	0	0.000781405	0	0
SETD1A	9739	broad.mit.edu	37	16	30976141	30976141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:30976141C>T	uc002ead.1	+	6	1764	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	360	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ctcTCAGTTTCGTAGTTCTGA	0.587000														99			67		0	0	0.000781405	0	0
CD200R1	131450	broad.mit.edu	37	3	112647745	112647745	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:112647745C>T	uc003dzj.1	-	4	920	c.687G>A	c.(685-687)tgG>tgA	p.W229*	CD200R1_uc003dzk.1_Nonsense_Mutation_p.W206*|CD200R1_uc011bhx.1_Nonsense_Mutation_p.W184*	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	206					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGTGGACCTCCCAGTGGCATG	0.498000														22			20		0	0	0.00047179	0	0
PTPRC	5788	broad.mit.edu	37	1	198665951	198665951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:198665951G>A	uc001gur.1	+	3	385	c.205G>A	c.(205-207)Gag>Aag	p.E69K	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Missense_Mutation_p.E71K|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Missense_Mutation_p.E112K|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	69					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGACTTCTCAGAGACCACAAC	0.458000														101			38		0	0	0.00148497	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13927880	13927880	+	RNA	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:13927880G>A	uc002god.1	+	0		c.66G>A								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		TTCAGGAACGGAGGGAGTGAG	0.557000														25			18		0	0	0.00152264	0	0
AARS	16	broad.mit.edu	37	16	70302194	70302194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:70302194C>T	uc002eyn.1	-	7	1161	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	AARS_uc010vlu.1_Missense_Mutation_p.D181N	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	351					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ACGACAACATCCACTAACGTA	0.502000														19			19		0	0	0.000958276	0	0
CUX2	23316	broad.mit.edu	37	12	111746297	111746297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:111746297C>T	uc001tsa.2	+	13	1379	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	409						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGAAATTCCTTCTGGAGAA	0.617000														4			10		0	0	0.00136819	0	0
CGNL1	84952	broad.mit.edu	37	15	57744419	57744419	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:57744419G>A	uc010bfw.3	+	6	2179	c.1986G>A	c.(1984-1986)gtG>gtA	p.V662V	CGNL1_uc002aeg.3_Silent_p.V662V	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	662						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACGAAAAGGTGGAGGAGAACT	0.483000														25			15		0	0	0.000308642	0	0
MBTPS1	8720	broad.mit.edu	37	16	84100115	84100115	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:84100115A>G	uc002fhi.3	-	16	2834	c.2332T>C	c.(2332-2334)Ttc>Ctc	p.F778L	MBTPS1_uc002fhh.3_Missense_Mutation_p.F282L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	778					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCAGGGTGAACTCCCCTTCA	0.537000														16			13		0	0	0.000422831	0	0
ABCA13	154664	broad.mit.edu	37	7	48315402	48315402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:48315402G>A	uc003toq.2	+	16	6163	c.6139G>A	c.(6139-6141)Gaa>Aaa	p.E2047K	ABCA13_uc010kyr.2_Missense_Mutation_p.E1550K|ABCA13_uc022acp.1_Missense_Mutation_p.E546K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2047					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						AAGTTTTATTGAAAAAAGTGA	0.358000														11			24		0	0	0.000878237	0	0
FCGBP	8857	broad.mit.edu	37	19	40398010	40398010	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:40398010G>A	uc002omp.4	-	13	6965	c.6957C>T	c.(6955-6957)gcC>gcT	p.A2319A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2319						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)			GGGCCCCAGCGGCCTGACAGG	0.652000														86			20		0	0	0.00058488	0	0
NOD2	64127	broad.mit.edu	37	16	50744939	50744939	+	Missense_Mutation	SNP	C	T	T	rs145293873		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:50744939C>T	uc002egm.1	+	3	1222	c.1117C>T	c.(1117-1119)Cgt>Tgt	p.R373C	NOD2_uc021tia.1_Missense_Mutation_p.R205C|NOD2_uc010cbk.1_Missense_Mutation_p.R346C|NOD2_uc002egl.1_Missense_Mutation_p.R151C|NOD2_uc010cbl.1_Missense_Mutation_p.R151C|NOD2_uc010cbm.1_Missense_Mutation_p.R151C|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	373	NACHT.		R -> C (associated with Crohn disease).		JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.R373H(1)|p.R373R(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCACCCTGACCGTGTCCTGTT	0.542000														33			22		0	0	0.00047179	0	0
ZNF83	55769	broad.mit.edu	37	19	53116288	53116288	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:53116288C>T	uc002pzu.4	-	1	2774	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	ZNF83_uc002pzv.4_Silent_p.K510K|ZNF83_uc010eps.3_Silent_p.K482K|ZNF83_uc010ept.3_Silent_p.K510K|ZNF83_uc010epu.3_Silent_p.K510K|ZNF83_uc010epw.3_Silent_p.K510K|ZNF83_uc010epv.3_Silent_p.K510K|ZNF83_uc010epx.3_Silent_p.K482K|ZNF83_uc010epy.3_Silent_p.K510K|ZNF83_uc010epz.3_Silent_p.K482K|ZNF83_uc010eqb.2_Silent_p.K482K|ZNF83_uc021uyx.1_Silent_p.K510K	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	510						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTTAGATTTCTTTCCGGCAT	0.358000														24			22		0	0	0.00047179	0	0
MYO1G	64005	broad.mit.edu	37	7	45016598	45016598	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:45016598G>A	uc003tmh.2	-	1	312	c.168C>T	c.(166-168)ccC>ccT	p.P56P	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	56	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCCCATACAGGGGCAGCTCCT	0.622000														23			31		0	0	0.000814825	0	0
IGLL1	3543	broad.mit.edu	37	22	23915600	23915600	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:23915600G>A	uc002zxd.3	-	2	613	c.495C>T	c.(493-495)ccC>ccT	p.P165P	IGLL1_uc002zxe.3_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	165	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TCTGTTTGGAGGGCGTGGTCA	0.587000														46			60		0	0	0.000781405	0	0
C16orf79	283870	broad.mit.edu	37	16	2259370	2259370	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:2259370G>T	uc010bsh.3	-	4	1011	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	MLST8_uc002cpc.3_3'UTR|MLST8_uc010uvx.2_3'UTR|MLST8_uc002cpd.3_3'UTR|MLST8_uc002cpb.3_3'UTR|MLST8_uc002coz.3_3'UTR|MLST8_uc002cpe.3_3'UTR|MLST8_uc002cpf.3_3'UTR|MLST8_uc002cph.3_Non-coding_Transcript|C16orf79_uc002cpi.2_Missense_Mutation_p.P227Q	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	259						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						GGCTCAGTCTGGGAGGTAATA	0.627000														22			28		2.80507e-11	9.67507e-11	0.0024448	1	0
PLCG2	5336	broad.mit.edu	37	16	81962173	81962173	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:81962173A>C	uc002fgt.3	+	23	2703	c.2525A>C	c.(2524-2526)gAc>gCc	p.D842A		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	842					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATTATTGAAGACAATCCCTTA	0.418000														59			31		0	0	0.000953801	0	0
CORO2B	10391	broad.mit.edu	37	15	69006963	69006963	+	Silent	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:69006963C>T	uc002arj.4	+	6	1125	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CORO2B_uc021spj.1_Silent_p.F272F|CORO2B_uc010bic.3_Silent_p.F272F|CORO2B_uc002ark.3_Silent_p.F44F	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	277					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGTTCCCCTTCTATGATGCTG	0.602000														74			50		0	0	0.000781405	0	0
TRIM24	8805	broad.mit.edu	37	7	138239496	138239496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:138239496C>T	uc003vuc.3	+	8	1530	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM24_uc003vub.3_Missense_Mutation_p.P439S|TRIM24_uc022amn.1_Missense_Mutation_p.P397S	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	439					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TAAGCAGAATCCTGTCGTGGA	0.418000														50			90		0	0	0.000781405	0	0
SLC25A21	89874	broad.mit.edu	37	14	37203731	37203731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:37203731G>A	uc001wtz.2	-	3	561	c.251C>T	c.(250-252)aCc>aTc	p.T84I	SLC25A21_uc021rsf.1_Missense_Mutation_p.T84I	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	84					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	p.T84>?(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TCTTTTTGGGGTTTCAGCCAA	0.393000														2			5		0	0	0.00198382	0	0
WDR49	151790	broad.mit.edu	37	3	167246977	167246977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:167246977C>T	uc003fev.1	-	9	1517	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	WDR49_uc003feu.1_Missense_Mutation_p.D230N|WDR49_uc011bpd.1_Missense_Mutation_p.D469N|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	405										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTATATATATCCCAAAATCTG	0.383000														27			18		0	0	0.000958276	0	0
MYH6	4624	broad.mit.edu	37	14	23857130	23857130	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:23857130G>A	uc001wjv.3	-	30	4433	c.4362C>T	c.(4360-4362)atC>atT	p.I1454I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1454					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTCGGCCAGGATCTGCCCGG	0.627000														1			13		0	0	0.00244969	0	0
OR1B1	347169	broad.mit.edu	37	9	125391601	125391601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:125391601C>T	uc011lyz.2	-	0	214	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGCCCCATGTCTATCACAGAG	0.532000														16			18		0	0	0.000958276	0	0
PION	54103	broad.mit.edu	37	7	77006657	77006657	+	Silent	SNP	G	A	A	rs138204887	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:77006657G>A	uc003ugf.3	-	8	706	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	209					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCCCAAACGAAATCCTCAG	0.303000														191			77		0	0	0.000781405	0	0
PLGLA	285189	broad.mit.edu	37	2	107007411	107007411	+	RNA	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:107007411G>A	uc002tdp.3	+	2		c.260G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		ACAGAGGGACGATGTCCAAAA	0.448000														20			18		0	0	0.00278032	0	0
OR5H1	26341	broad.mit.edu	37	3	97852162	97852162	+	Silent	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:97852162G>A	uc011bgt.2	+	0	621	c.621G>A	c.(619-621)caG>caA	p.Q207Q		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTCAATTCAGGTATTCAGCA	0.313000														29			19		0	0	0.000958276	0	0
NUF2	83540	broad.mit.edu	37	1	163307861	163307861	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:163307861T>A	uc001gcq.1	+	6	787	c.487T>A	c.(487-489)Tta>Ata	p.L163I	NUF2_uc001gcr.1_Missense_Mutation_p.L163I	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	163	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CCAGGAGGCATTAATGAAACT	0.338000														32			29		0	0	0.0024448	0	0
TPH2	121278	broad.mit.edu	37	12	72388322	72388322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:72388322G>A	uc009zrw.1	+	7	1186	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TPH2_uc001swy.2_Missense_Mutation_p.E259K	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	349					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCATCAGATGAAGATGTTCA	0.413000														36			29		0	0	0.00127121	0	0
CENPL	91687	broad.mit.edu	37	1	173772132	173772133	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:173772132_173772133delAC	uc001gjg.4	-	5	1672_1673	c.1069_1070delGT	c.(1069-1071)gtafs	p.V357fs	CENPL_uc001gje.4_Frame_Shift_Del_p.V311fs|CENPL_uc001gjf.4_Frame_Shift_Del_p.V311fs	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	311					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TGCTGAAGCTACAGATGTTGAA	0.307													---	39	---	---	18	---					
ANKRD23	200539	broad.mit.edu	37	2	97505794	97505794	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:97505794delC	uc002sxa.3	-	6	692	c.663delG	c.(661-663)cggfs	p.R221fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Del_p.R179fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	221						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						AGTCGGGGTGCCGGGTGCGCA	0.647													---	4	---	---	2	---					
GRB14	2888	broad.mit.edu	37	2	165365287	165365288	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:165365287_165365288insT	uc002ucl.3	-	6	1432_1433	c.891_892insA	c.(889-894)aaacatfs	p.K297fs	GRB14_uc010zcv.2_Frame_Shift_Ins_p.K210fs	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	297	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K297fs*23(4)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371													---	121	---	---	8	---					
NCKAP1	10787	broad.mit.edu	37	2	183817137	183817152	+	Frame_Shift_Del	DEL	AGTTCAGCAACTTGTG	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:183817137_183817152delAGTTCAGCAACTTGTG	uc002upc.3	-	22	2984_2999	c.2582_2597delCACAAGTTGCTGAACT	c.(2581-2598)tcacaagttgctgaacttfs	p.S861fs	NCKAP1_uc002upb.3_Frame_Shift_Del_p.S867fs	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	861					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATTACCTTAAGTTCAGCAACTTGTGATGAAATATG	0.296													---	81	---	---	12	---					
CRMP1	1400	broad.mit.edu	37	4	5837637	5837641	+	Splice_Site	DEL	CTTAC	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:5837637_5837641delCTTAC	uc003gis.3	-	11	1712	c.1623_splice	c.e11+1	p.S541_splice	CRMP1_uc003giq.3_Splice_Site_p.S427_splice|CRMP1_uc003gir.3_Splice_Site_p.S422_splice	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	427					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.?(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TAGGCCAGGACTTACCGACTTGTGA	0.449													---	62	---	---	35	---					
WFS1	7466	broad.mit.edu	37	4	6302505	6302507	+	In_Frame_Del	DEL	TCT	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:6302505_6302507delTCT	uc003giy.3	+	7	1149_1151	c.983_985delTCT	c.(982-987)atcttc>atc	p.F331del	WFS1_uc003gix.3_In_Frame_Del_p.F331del|WFS1_uc003giz.3_In_Frame_Del_p.F149del	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	331					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AACGCGCTCATCTTCTTCTTCAT	0.542													---	472	---	---	136	---					
KIAA1211	57482	broad.mit.edu	37	4	57182826	57182828	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:57182826_57182828delCTT	uc003hbk.2	+	7	3549_3551	c.3158_3160delCTT	c.(3157-3162)ccttct>cct	p.S1054del	KIAA1211_uc010iha.2_In_Frame_Del_p.S1047del|KIAA1211_uc011bzz.1_In_Frame_Del_p.S964del|KIAA1211_uc003hbm.1_In_Frame_Del_p.S940del	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1054								p.P1053H(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAGAGAAACCTTCTCAAACACC	0.596													---	25	---	---	14	---					
CAMK2D	817	broad.mit.edu	37	4	114435031	114435033	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:114435031_114435033delCTC	uc003ibi.3	-	10	1715_1717	c.856_858delGAG	c.(856-858)gagdel	p.E286del	CAMK2D_uc003ibj.3_In_Frame_Del_p.E286del|CAMK2D_uc003ibk.3_In_Frame_Del_p.E286del|CAMK2D_uc003ibo.4_In_Frame_Del_p.E286del|CAMK2D_uc003ibm.2_In_Frame_Del_p.E286del|CAMK2D_uc003ibn.2_In_Frame_Del_p.E286del|CAMK2D_uc003ibl.2_In_Frame_Del_p.E286del	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	286	Autoinhibitory domain (By similarity).				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGTCTACAGTCTCCTGTCTGTGC	0.325													---	27	---	---	18	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:140052285delT	uc003lgt.3	-	2	393	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(2)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													---	5	---	---	3	---					
SYNCRIP	10492	broad.mit.edu	37	6	86324551	86324553	+	In_Frame_Del	DEL	CAC	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:86324551_86324553delCAC	uc003pla.2	-	10	2334_2336	c.1793_1795delGTG	c.(1792-1797)ggtgat>gat	p.G598del	SYNCRIP_uc003pku.3_Intron|SYNCRIP_uc003pkv.3_Intron|SYNCRIP_uc003pkw.3_Intron|SYNCRIP_uc003pkx.3_Intron|SYNCRIP_uc003pky.3_Intron|SYNCRIP_uc003pkz.2_In_Frame_Del_p.G563del	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	598					CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCAGAATGATCACCACCTTGGAG	0.478													---	60	---	---	39	---					
MCPH1	79648	broad.mit.edu	37	8	6302515	6302516	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:6302515_6302516insT	uc003wqi.3	+	7	1348_1349	c.1272_1273insT	c.(1270-1275)aggtatfs	p.R424fs	MCPH1_uc003wqh.3_Frame_Shift_Ins_p.R424fs|MCPH1_uc011kwl.2_Frame_Shift_Ins_p.R376fs	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	424						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TTAAGGAAAGGTATTCAGAGAA	0.465													---	54	---	---	42	---					
PTEN	5728	broad.mit.edu	37	10	89690811	89690812	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:89690811_89690812delAA	uc001kfb.3	+	3	1250_1251	c.218_219delAA	c.(217-219)gaafs	p.E73fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	73	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.E73fs*25(2)|p.Y27fs*1(2)|p.E73fs*4(2)|p.E73V(2)|p.Y27_N212>Y(2)|p.E73*(1)|p.A72A(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTGTGCTGAAAGACATTATG	0.307		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	7	---	---	18	---					
C14orf49	161176	broad.mit.edu	37	14	95923537	95923537	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:95923537delT	uc001yei.4	-	3	781	c.766delA	c.(766-768)acgfs	p.T256fs	C14orf49_uc010avi.3_Frame_Shift_Del_p.T256fs|C14orf49_uc001yej.1_Frame_Shift_Del_p.T256fs	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	256					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AGGCGCTGCGTGATGGGCAGC	0.582													---	12	---	---	26	---					
KIAA0556	23247	broad.mit.edu	37	16	27751863	27751863	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:27751863delG	uc002dow.3	+	14	2269	c.2245delG	c.(2245-2247)gggfs	p.G749fs		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	749								p.P748P(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGAGCCACCCGGGAAAACCCC	0.572													---	62	---	---	43	---					
CDH19	28513	broad.mit.edu	37	18	64221643	64221645	+	Splice_Site	DEL	TGT	-	-	rs141895623		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:64221643_64221645delTGT	uc002lkc.1	-	4	748	c.610_splice	c.e4+1	p.G204_splice	CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Splice_Site_p.G204_splice|CDH19_uc002lkd.3_Splice_Site_p.G204_splice	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CACAAATACCTGTTGTTGGTTCA	0.389													---	6	---	---	28	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	-	-	rs13056859	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	uc003asz.4	+	2	1161_1181	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding	p.N258_A264delNPSAPAA(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													---	8	---	---	4	---					
SYTL5	94122	broad.mit.edu	37	X	37965921	37965923	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:37965921_37965923delCTT	uc004ddx.3	+	10	1653_1655	c.1297_1299delCTT	c.(1297-1299)cttdel	p.L434del	SYTL5_uc004ddu.3_In_Frame_Del_p.L412del|SYTL5_uc004ddv.3_In_Frame_Del_p.L412del	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	412	C2 1.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGTGAAATCCTTCTCCATATCA	0.429													---	39	---	---	8	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	-	-	rs72445954		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:38079976_38079978delGCA	uc004ddy.2	-	0	200_202	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_uc011mki.2_In_Frame_Del_p.L23del|SRPX_uc004ddz.2_In_Frame_Del_p.L23del|SRPX_uc011mkh.2_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	2	---	---	4	---