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
UNC13C	440279	broad.mit.edu	37	15	54307357	54307357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:54307357C>T	uc021smr.1	+	0	2257	c.2257C>T	c.(2257-2259)Caa>Taa	p.Q753*	UNC13C_uc021sms.1_Nonsense_Mutation_p.Q753*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	753					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)		ATACCAAAATCAAAACCAGTT	0.423000														7			6		0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420583	37420583	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:37420583C>T	uc011amu.2	+	1	563	c.387C>T	c.(385-387)tcC>tcT	p.S129S	MPST_uc003aqi.1_Silent_p.S109S|MPST_uc003aqm.3_Silent_p.S109S|MPST_uc003aql.3_Silent_p.S109S|MPST_uc003aqj.3_Silent_p.S109S	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GCCTCTACTCCGCCCCGCGCG	0.716000														5			3		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595501	82595501	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82595501C>T	uc003uhx.2	-	3	3892	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	PCLO_uc003uhv.2_Silent_p.E1201E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1140					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						CTTTGTCTTTCTCTAGTTTAC	0.348000														46			44		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303977	151303977	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:151303977G>A	uc022cgz.1	-	0	116	c.116C>T	c.(115-117)tCa>tTa	p.S39L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.S39L|MAGEA10_uc004ffm.2_Missense_Mutation_p.S39L|MAGEA10_uc004ffl.3_Missense_Mutation_p.S39L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	39										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGATGATGAAGCATCCTC	0.557000														10			21		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022822	76022822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:76022822G>A	uc010kbe.3	-	5	3265	c.2735C>T	c.(2734-2736)cCc>cTc	p.P912L	FILIP1_uc003phy.1_Missense_Mutation_p.P909L|FILIP1_uc003phz.3_Missense_Mutation_p.P810L|FILIP1_uc003pia.3_Missense_Mutation_p.P909L|FILIP1_uc003pib.1_Missense_Mutation_p.P661L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	909										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						AATATGCAGGGGCTGGCCCTG	0.522000														80			28		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180908	19180908	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:19180908C>T	uc001bba.1	-	2	1057	c.1056G>A	c.(1054-1056)agG>agA	p.R352R		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	352					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCTGGCTGGTCCTGCTGAGGG	0.632000														18			11		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111753534	111753534	+	Missense_Mutation	SNP	C	T	T	rs150734728	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:111753534C>T	uc010yxk.1	+	13	1458	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	ACOXL_uc021vmm.1_Missense_Mutation_p.R265C|ACOXL_uc021vmn.1_Missense_Mutation_p.R235C	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	442					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTGAAATTTCGTGAAAGGGT	0.368000														88			71		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791100	95791100	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:95791100G>A	uc001kjk.3	+	1	931	c.297G>A	c.(295-297)gcG>gcA	p.A99A	PLCE1_uc010qnx.2_Silent_p.A99A	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	99					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGATTCTGCGAAAAACCTTA	0.388000														44			23		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:55933851C>T	uc003pcs.3	-	21	2316	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_uc010jzz.3_Missense_Mutation_p.G80E|COL21A1_uc011dxg.2_Missense_Mutation_p.G80E|COL21A1_uc011dxh.2_Missense_Mutation_p.G80E|COL21A1_uc003pcr.3_Missense_Mutation_p.E53K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000														14			3		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57441839	57441839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:57441839G>A	uc001smw.4	-	2	404	c.164C>T	c.(163-165)cCc>cTc	p.P55L	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.P55L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	55	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCCATAGATGGGAAGCTGTTG	0.507000														46			18		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62197555	62197555	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:62197555T>C	uc002yfm.2	-	8	3512	c.2620A>G	c.(2620-2622)Act>Gct	p.T874A	PRIC285_uc002yfl.1_Missense_Mutation_p.T305A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	874					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGTGCACAGTGCTGAGCACC	0.701000														13			3		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019064	14019064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:14019064G>A	uc001rbt.2	-	1	258	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	27					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCTGAGAACGAGCTCTGCTG	0.582000														26			24		0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169673786	169673786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:169673786C>T	uc010pls.2	-	2	657	c.548G>A	c.(547-549)gGa>gAa	p.G183E	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.G243E|SELL_uc001ggl.2_Missense_Mutation_p.G243E	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	230	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAAGTTTGTTCCTTCAGAGCA	0.498000														7			3		0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34956603	34956603	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:34956603C>T	uc002hnd.3	+	6	968	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	MRM1_uc002hne.3_5'Flank|MRM1_uc002hnf.3_5'Flank	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.	252						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TGGAGACATCCAGATGAGGCC	0.612000														31			21		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61566075	61566075	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:61566075G>A	uc002jau.2	+	15	2406	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	ACE_uc010wpj.2_Missense_Mutation_p.R217Q|ACE_uc010ddv.2_Missense_Mutation_p.R18Q|ACE_uc002jav.2_Missense_Mutation_p.R217Q|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.R101Q	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	791	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGGGCTGGCGAGACAAGGCG	0.562000														112			39		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70513779	70513779	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:70513779A>G	uc001joo.3	+	10	1408	c.1289A>G	c.(1288-1290)gAa>gGa	p.E430G	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Missense_Mutation_p.E235G|CCAR1_uc009xpx.1_Missense_Mutation_p.E404G|CCAR1_uc001jon.1_Missense_Mutation_p.E376G|CCAR1_uc010qiz.1_Missense_Mutation_p.E415G|CCAR1_uc010qja.1_Missense_Mutation_p.E415G|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	430					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAGTCCTTAGAAAAAAATATG	0.383000														51			36		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954876	30954876	+	Silent	SNP	C	T	T	rs41288669	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:30954876C>T	uc003nsh.2	+	1	1175	c.924C>T	c.(922-924)acC>acT	p.T308T	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.T292T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	308	28 X 15 AA approximate tandem repeats.|Ser-rich.			T -> V (in Ref. 3; AAQ88781 and 4; CAQ08321).		integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGTACGACCTCCAGTGGGG	0.607000														371			155		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882614	51882614	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:51882614C>T	uc001rys.1	+	17	2596	c.2418C>T	c.(2416-2418)gtC>gtT	p.V806V	SLC4A8_uc001rym.3_Silent_p.V753V|SLC4A8_uc001ryn.3_Silent_p.V753V|SLC4A8_uc001ryo.2_Silent_p.V753V|SLC4A8_uc010snj.2_Silent_p.V833V|SLC4A8_uc001ryr.3_Silent_p.V806V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	806					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCACAGCCGTCATTATTAACA	0.433000														50			25		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572463	41572463	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:41572463C>T	uc003azl.4	+	29	5387	c.4992C>T	c.(4990-4992)gaC>gaT	p.D1664D		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1664	Binding region for E1A adenovirus.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAGCCAGGACCGCTTTGTCT	0.582000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					68			55		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227876987	227876987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:227876987C>T	uc021vxr.1	-	43	4344	c.4243G>A	c.(4243-4245)Ggc>Agc	p.G1415S	COL4A4_uc021vxs.1_Missense_Mutation_p.G1412S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1415	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCCTCCTGCCATCCAGCCCA	0.562000														33			16		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679654	53679654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:53679654G>A	uc002ehp.3	-	16	2630	c.2566C>T	c.(2566-2568)Ctt>Ttt	p.L856F	RPGRIP1L_uc002eho.4_Missense_Mutation_p.L856F|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.L856F|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.L856F|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.L856F	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	856	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTGACTTAAGGTATCGATCC	0.388000														90			51		0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161143521	161143521	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:161143521G>A	uc002ubo.3	-	6	1159	c.715C>T	c.(715-717)Cct>Tct	p.P239S	RBMS1_uc002ubn.3_Missense_Mutation_p.P239S|RBMS1_uc002ubi.4_Missense_Mutation_p.P239S|RBMS1_uc002ubm.3_Missense_Mutation_p.P206S|RBMS1_uc002ubp.3_Missense_Mutation_p.P239S|RBMS1_uc010fox.2_Missense_Mutation_p.P239S	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	239					DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CTTCCATTAGGGATGTATTTG	0.443000														156			44		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65236380	65236380	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:65236380C>T	uc001xht.3	-	26	5916	c.5865G>A	c.(5863-5865)cgG>cgA	p.R1955R	SPTB_uc001xhr.3_Silent_p.R1955R|SPTB_uc001xhs.3_Silent_p.R1955R|SPTB_uc001xhu.3_Silent_p.R1955R|SPTB_uc010aqi.3_Silent_p.R616R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1955					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R1955W(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGTTCTTGCTCCGGGTTTCAA	0.587000														107			48		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037718	220037718	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:220037718G>A	uc002vju.4	-	7	975	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Missense_Mutation_p.R275C	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	275					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						AGGAGGCAACGGGAGGTCAGT	0.617000														96			32		0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94918597	94918597	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:94918597G>A	uc001pfk.1	-	4	807	c.585C>T	c.(583-585)gtC>gtT	p.V195V	SESN3_uc010rug.1_Silent_p.V56V|SESN3_uc001pfl.3_Silent_p.V195V	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	195					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GTGCCAGGAGGACCACAGCAT	0.383000														26			55		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128887561	128887561	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:128887561G>A	uc003kvb.1	+	6	1315	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	439	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCTAGGAAAGATTTCTGTGT	0.289000														27			6		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98073360	98073360	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:98073360C>T	uc011bgv.2	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATCTCTGCATCCTTTTGACTG	0.343000														33			16		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447069	22447069	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:22447069G>A	uc010tmm.2	+	1	242	c.50G>A	c.(49-51)gGa>gAa	p.G17E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		GTTGCAGGAGGAACCAGAGCC	0.453000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			64		0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20824282	20824282	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:20824282T>C	uc003suz.3	-	1	1245	c.1154A>G	c.(1153-1155)tAc>tGc	p.Y385C	SP8_uc003suy.3_Missense_Mutation_p.Y367C|SP8_uc022aak.1_Missense_Mutation_p.Y367C	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Homo sapiens Sp8 transcription factor (SP8), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGTCTTGCCGTACACCTTGCC	0.697000														51			11		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123471920	123471920	+	Silent	SNP	G	A	A	rs147908575	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:123471920G>A	uc001uej.1	-	21	3520	c.3321C>T	c.(3319-3321)ttC>ttT	p.F1107F	PITPNM2_uc001uek.1_Silent_p.F1101F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	1107					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGAAGACCACGAACTCTGTGC	0.647000														21			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063915	9063915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:9063915G>A	uc002mkp.3	-	2	23735	c.23531C>T	c.(23530-23532)tCa>tTa	p.S7844L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7846	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGGTGCCTGAGCTGGTCCC	0.562000														21			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22712561	22712561	+	RNA	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:22712561G>A	uc021wml.1	+	43		c.4972G>A								Parts of antibodies, mostly variable regions.																		CCGGTCCGAGGATGAGGCTGA	0.592000														154			164		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799392	5799392	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:5799392A>T	uc010qzn.2	-	0	506	c.473T>A	c.(472-474)tTc>tAc	p.F158Y	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F158F(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACCCCTCAGGAAGGTGGCAAG	0.483000														86			44		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201180	132201180	+	Silent	SNP	G	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:132201180G>C	uc002tst.2	-	0	1288	c.822C>G	c.(820-822)ctC>ctG	p.L274L						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		ACAAGGGTTGGAGGGCTTCGC	0.587000														13			13		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684090	6684090	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:6684090C>T	uc010vtg.2	+	1	1023	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	301										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGGCCCGAATCCTCTTGCAGG	0.527000														24			20		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825720	20825720	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:20825720T>A	uc002zsl.2	-	2	467	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	KLHL22_uc011ahr.2_Intron	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	104	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAATGTAGGATTTGGCACATA	0.507000														99			95		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70866849	70866849	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:70866849C>T	uc002ezr.3	-	79	13949	c.13798G>A	c.(13798-13800)Gag>Aag	p.E4600K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4601										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)				CAAAGGCTCTCCTTTCCCACC	0.498000														20			17		0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7124308	7124308	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:7124308C>T	uc002gev.3	+	5	559	c.408C>T	c.(406-408)ctC>ctT	p.L136L	DLG4_uc002get.4_5'Flank|DLG4_uc010vto.2_5'Flank|ACADVL_uc010vtp.2_Silent_p.L146L|ACADVL_uc010vtq.1_Silent_p.L182L|ACADVL_uc002gew.3_Silent_p.L114L|ACADVL_uc002gex.3_Silent_p.L60L	NM_000018	NP_000009	P49748	ACADV_HUMAN	Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	136	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGCAGGGCCTCAAGGAGCTGG	0.612000														40			33		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18875593	18875593	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:18875593G>A	uc003sui.3	+	19	2698	c.2657G>A	c.(2656-2658)gGa>gAa	p.G886E	HDAC9_uc003sue.3_Missense_Mutation_p.G883E|HDAC9_uc003suh.3_Missense_Mutation_p.G883E|HDAC9_uc003suj.3_Missense_Mutation_p.G842E|HDAC9_uc003suk.3_Missense_Mutation_p.G131E	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	883	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCCCATGGGAGATGTTGAG	0.443000														6			7		0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52402951	52402951	+	Silent	SNP	C	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:52402951C>A	uc003joz.3	-	2	468	c.54G>T	c.(52-54)ccG>ccT	p.P18P	MOCS2_uc011cqf.2_Missense_Mutation_p.V81F|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GGGGGGATAACGGCAATTTCG	0.433000														82			105		1.8369e-69	1.88777e-69	1	1	0
TACR3	6870	broad.mit.edu	37	4	104640625	104640625	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:104640625G>A	uc003hxe.1	-	0	349	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	70						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTGGCCCAGGGCTGGGAGGGC	0.652000														75			26		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986902	141986902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:141986902C>T	uc002tvj.1	-	5	1672	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	234					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GTATGAATTTCATTTCCATTG	0.294000										TSP Lung(27;0.18)				14			14		0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56359780	56359780	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:56359780T>A	uc001sir.3	-	0	679	c.16A>T	c.(16-18)Aaa>Taa	p.K6*	CDK2_uc001sit.4_5'Flank|CDK2_uc001siu.4_5'Flank|CDK2_uc010spy.2_5'Flank|PMEL_uc001siq.3_Nonsense_Mutation_p.K6*|PMEL_uc010spx.2_Nonsense_Mutation_p.K6*|PMEL_uc001sip.3_Nonsense_Mutation_p.K6*	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	6					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGCATCTTTTTAGCACCAGA	0.498000														153			95		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23417851	23417851	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:23417851G>A	uc001bgk.2	-	3	3454	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	LUZP1_uc010odv.1_Silent_p.S968S|LUZP1_uc001bgl.3_Silent_p.S968S|LUZP1_uc001bgm.1_Silent_p.S968S	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	968						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CAAAAAGGCAGGACCTGGGCT	0.542000														28			10		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	A	A	rs3917742	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:169578921G>A	uc001ggi.4	-	7	1219	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_uc001ggh.3_Missense_Mutation_p.S220L|SELP_uc009wvr.3_Missense_Mutation_p.S385L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000														47			15		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936725	151936725	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:151936725G>T	uc003qol.3	+	9	1947	c.1858G>T	c.(1858-1860)Gaa>Taa	p.E620*		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	620																	GGAGAATAAAGAAAGGGCCAG	0.413000														58			31		6.50621e-10	6.62523e-10	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620708	7620708	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:7620708C>T	uc003bqm.2	+	7	2389	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.I705I|GRM7_uc003bql.2_Silent_p.I705I|GRM7_uc003bqn.1_Silent_p.I288I|GRM7_uc010hch.1_Silent_p.I216I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	705					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AACTGGCAATCACTTCCAGTT	0.418000														39			14		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524853	112524853	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:112524853G>A	uc001ebu.1	-	1	976	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	KCND3_uc001ebv.1_Missense_Mutation_p.R166C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	166						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGGTCTGGCGGAAGCTGAGC	0.607000														25			12		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6222267	6222267	+	Splice_Site	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:6222267A>C	uc003mwv.3	-	8	1235	c.1112_splice	c.e8+1	p.W371_splice	F13A1_uc011dib.2_Splice_Site_p.W308_splice	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	371					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)	CAAACTCACCACACTGAATCC	0.378000														57			31		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730175	141730175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:141730175C>T	uc003vwy.3	+	10	1289	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	412	Maltase.				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)	GTTCAGCATGCTGATATTGAT	0.338000														18			22		0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13004396	13004396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:13004396C>T	uc002mvq.3	+	5	511	c.434C>T	c.(433-435)tCc>tTc	p.S145F	GCDH_uc010xms.2_Missense_Mutation_p.S112F|GCDH_uc002mvp.3_Missense_Mutation_p.S145F|GCDH_uc010xmt.2_5'UTR|GCDH_uc010xmu.2_Missense_Mutation_p.S101F	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	145					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AGTGTCCAGTCCTCCCTCGTC	0.632000														105			56		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:146829338G>A	uc003weu.2	+	8	1600	c.1084_splice	c.e8-1	p.G362_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)				82			53		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777767	3777767	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:3777767G>A	uc002cvv.3	-	30	7485	c.7281C>T	c.(7279-7281)gtC>gtT	p.V2427V	CREBBP_uc002cvw.3_Silent_p.V2389V	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2427					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							135			80		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91456430	91456430	+	Silent	SNP	G	A	A	rs143087998		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:91456430G>A	uc004efk.2	+	2	3935	c.3090G>A	c.(3088-3090)gaG>gaA	p.E1030E	PCDH11X_uc004efl.2_Silent_p.E1030E|PCDH11X_uc010nmv.2_Silent_p.E1030E|PCDH11X_uc004efm.2_Silent_p.E1030E|PCDH11X_uc004efn.2_Silent_p.E1030E|PCDH11X_uc004efo.2_Intron	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1030					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAACTATGGAGATCTGGATTC	0.378000														7			33		0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96503652	96503652	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:96503652T>A	uc003kmz.3	-	7	1026	c.916A>T	c.(916-918)Aca>Tca	p.T306S	RIOK2_uc003kna.3_Missense_Mutation_p.T306S	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	306	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATTTCCTTTGTGTAGCCACTG	0.388000														46			75		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626771	108626771	+	Silent	SNP	G	A	A	rs141187628		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:108626771G>A	uc002tdv.3	+	8	1473	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	SLC5A7_uc010ywm.2_Silent_p.T152T|SLC5A7_uc010fjj.3_Silent_p.T399T|SLC5A7_uc010ywn.2_Silent_p.T286T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	399					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTTGCTGACGAAAACTGTGT	0.463000														50			46		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480299	206480299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:206480299C>T	uc002var.2	+	22	3587	c.3380C>T	c.(3379-3381)cCc>cTc	p.P1127L	PARD3B_uc002vao.2_Missense_Mutation_p.P1026L|PARD3B_uc002vap.2_Missense_Mutation_p.P1065L|PARD3B_uc002vaq.2_Missense_Mutation_p.P1058L	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1127					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGAGCTATCCCCGCCCCACA	0.602000														59			25		0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19956080	19956080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:19956080G>A	uc002zqu.3	+	5	886	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	COMT_uc011ahd.2_Missense_Mutation_p.G213R|COMT_uc002zqx.3_Missense_Mutation_p.G163R	NM_000754	NP_009294	P21964	COMT_HUMAN	Homo sapiens catechol-O-methyltransferase (COMT), transcript variant 1, mRNA.	213					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	GCTGCGGAAGGGGACAGTGCT	0.622000														45			39		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152474902	152474902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:152474902C>T	uc021vrb.1	-	68	10263	c.10234G>A	c.(10234-10236)Gaa>Aaa	p.E3412K	NEB_uc002txu.3_Missense_Mutation_p.E3655K|NEB_uc021vrc.1_Missense_Mutation_p.E3655K|NEB_uc010fnx.3_Missense_Mutation_p.E3400K|NEB_uc021vrd.1_Missense_Mutation_p.E3412K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3412					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAAGTAATTCTCCAGCTCTC	0.443000														61			25		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46490500	46490500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:46490500C>T	uc003cpq.3	-	8	1307	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	LTF_uc003fzr.3_Missense_Mutation_p.E312K|LTF_uc010hjh.3_Missense_Mutation_p.E356K|LTF_uc003cpr.3_Missense_Mutation_p.E343K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	356					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCAGCCACTTCCTCCTCACCT	0.662000														41			18		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51464851	51464852	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:51464851_51464852GG>AA	uc001jio.3	-	6	1730_1731	c.1604_1605CC>TT	c.(1603-1605)tcc>tTT	p.S535F	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	535	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTCCCTCGTGGACTTTTCTGT	0.554000														70			33		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84269879	84269879	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84269879A>G	uc021zcf.1	-	26	2605	c.2575T>C	c.(2575-2577)Ttt>Ctt	p.F859L	SNAP91_uc011dzd.2_Missense_Mutation_p.F357L|SNAP91_uc003pka.3_Missense_Mutation_p.F857L|SNAP91_uc011dze.2_Missense_Mutation_p.F857L|SNAP91_uc003pkc.3_Missense_Mutation_p.F829L|SNAP91_uc003pkd.3_Missense_Mutation_p.F552L|SNAP91_uc003pkb.3_Missense_Mutation_p.F768L	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	859	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGCTGTGCAAACATGACCGGC	0.537000														65			23		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098156	144098156	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:144098156C>T	uc022aoj.1	-	3	827	c.827G>A	c.(826-828)cGa>cAa	p.R276Q		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	276					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.R276Q(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTATAGGGTTCGTGTCTTTTT	0.542000														46			21		0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104852	44104852	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:44104852C>T	uc003tjs.3	-	0	335	c.277G>A	c.(277-279)Ggg>Agg	p.G93R		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	93					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GTGAGGCCCCCGTAATGCCGC	0.667000														44			37		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32339209	32339209	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:32339209G>C	uc001utt.3	+	3	426	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	RXFP2_uc010aba.3_Missense_Mutation_p.E119Q	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	119						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGACTGCAAAGAAACTGAATT	0.318000														108			7		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286558	240286558	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:240286558C>T	uc010pye.2	+	1	1920	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	FMN2_uc010pyd.2_Silent_p.I565I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	565					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	p.I708I(1)		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)			GCTCCCGGATCATTGCCATGG	0.498000														77			30		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145534130	145534130	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:145534130G>A	uc001eoa.3	+	13	1711	c.1635G>A	c.(1633-1635)caG>caA	p.Q545Q	ITGA10_uc010oyv.2_Silent_p.Q414Q|ITGA10_uc009wiw.3_Silent_p.Q402Q|ITGA10_uc010oyw.2_Silent_p.Q490Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	545					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.P544H(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCCCCCCAGGATGCTCGGT	0.562000														197			65		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886423	29886423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:29886423G>A	uc003afo.3	+	3	2865	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	938	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						AGCCAAGAAGGAACCAGATGA	0.522000														14			8		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961309	30961309	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:30961309G>C	uc002yno.1	-	10	1883	c.1419C>G	c.(1417-1419)gaC>gaG	p.D473E	GRIK1_uc002ynn.3_Missense_Mutation_p.D458E|GRIK1_uc011acs.2_Missense_Mutation_p.D473E|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.D316E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	473					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTTCAAATCTGTCATTTCCAT	0.363000														120			10		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300404	18300404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:18300404G>A	uc002zng.4	-	25	5376	c.5023C>T	c.(5023-5025)Ccg>Tcg	p.P1675S	MICAL3_uc011agl.2_Missense_Mutation_p.P1591S|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1675						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGACGGCGGGGAGAGGACC	0.657000														30			16		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475843	7475843	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:7475843C>T	uc001qsx.1	+	7	1139	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	380					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGATTTGTGCCAATCAGAAA	0.353000														16			9		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104747620	104747620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:104747620C>T	uc003vcm.3	+	20	3389	c.2855C>T	c.(2854-2856)tCt>tTt	p.S952F	MLL5_uc010ljc.3_Missense_Mutation_p.S952F|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.3_5'Flank|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	952					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	p.S952Y(2)		NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CAGAATATTTCTTCCCCAGAA	0.254000														54			53		0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84799080	84799080	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84799080C>T	uc003pkg.4	+	3	688	c.498C>T	c.(496-498)atC>atT	p.I166I	MRAP2_uc010kbo.3_Silent_p.I80I	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	166					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTTTGACATCCCCAACTTTG	0.502000														60			39		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115475	25115475	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:25115475C>T	uc003abd.1	-	20	3030	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	PIWIL3_uc011ajx.1_Silent_p.P753P|PIWIL3_uc010gut.1_Silent_p.P862P|PIWIL3_uc011ajy.1_Silent_p.P753P	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	871					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGAACGATTCGGTTCCTGGT	0.483000														74			86		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093927	1093927	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:1093927C>T	uc001lsx.1	+	31	5761	c.5734C>T	c.(5734-5736)Cct>Tct	p.P1912S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1988						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACCACGTCCCCTCCAGGTAA	0.647000														15			12		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215708	20215708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:20215708G>A	uc010tkt.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(3)|p.L40V(2)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGTCCTGGGAAACCTCTTG	0.398000														114			62		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248289	3248289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:3248289C>T	uc004crg.4	-	3	636	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	160						extracellular region				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)				GAGGAGATTTCCTTCCAAATG	0.468000														3			17		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60074182	60074182	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:60074182G>A	uc001xen.1	-	3	2003	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	RTN1_uc001xem.1_Silent_p.I178I|RTN1_uc001xek.2_Silent_p.I30I|RTN1_uc010apl.2_Silent_p.I15I	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	598	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCGTCTGCTTGATGTCCCGCC	0.612000														12			7		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882839	228882839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:228882839G>A	uc002vpq.2	-	6	2778	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P911S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P911S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	911						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GATTGAGCAGGAAGCAGCAGG	0.473000														88			74		0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113909269	113909269	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:113909269A>G	uc001tvj.1	-	0	609	c.35T>C	c.(34-36)aTc>aCc	p.I12T		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	12	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGGTCGAGGATGGGCCGCTC	0.667000														11			6		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877853	130877853	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:130877853T>C	uc010fmh.2	-	2	636	c.236A>G	c.(235-237)aAc>aGc	p.N79S		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	79						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCGCCCACGTTGCTCTTGCC	0.602000														141			45		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063248	175063248	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:175063248G>A	uc001gkl.1	+	6	1560	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	TNN_uc010pmx.1_Missense_Mutation_p.D483N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	483	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGCTGATGGGGACACCAAGGA	0.547000														41			18		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50055551	50055551	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:50055551C>T	uc003jon.4	+	4	441	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Missense_Mutation_p.H87Y|PARP8_uc003jop.3_Missense_Mutation_p.H87Y	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	87						intracellular	NAD+ ADP-ribosyltransferase activity	p.F86F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTAATTTTTCATAGAATAGC	0.254000														130			31		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61598783	61598783	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:61598783G>A	uc002yea.4	+	12	1426	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	SLC17A9_uc002ydz.4_Silent_p.G408G|SLC17A9_uc011aap.1_3'UTR	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	414					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCAACCTGGGGCTGTGCACCT	0.602000														100			157		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022649	18022649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:18022649G>A	uc021trm.1	+	0	754	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MYO15A_uc021trl.1_Missense_Mutation_p.E179K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	179	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTCGGGTGCCGAGATCCTGCG	0.726000														23			18		0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29105639	29105639	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:29105639C>T	uc003szv.3	-	10	1082	c.963_splice	c.e10+1	p.T321_splice	CPVL_uc003szw.3_Splice_Site_p.T321_splice|CPVL_uc003szx.3_Splice_Site_p.T321_splice	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	321					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGTCATTACCGTGCACCGCA	0.323000														58			57		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36629589	36629589	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:36629589G>A	uc003jkj.4	+	2	695	c.219G>A	c.(217-219)atG>atA	p.M73I	SLC1A3_uc011cox.2_Intron|SLC1A3_uc010iuy.3_Missense_Mutation_p.M73I	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	73					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATACAGAATGAGCTACCGGG	0.398000														109			27		0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514046	69514046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:69514046G>A	uc001opf.3	-	2	1097	c.635C>T	c.(634-636)cCc>cTc	p.P212L		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	212					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CTCAAAGCTGGGACTCCTCAC	0.597000														10			18		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748290	43748290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:43748290G>A	uc001zrs.3	-	11	2649	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	TP53BP1_uc010udp.2_Missense_Mutation_p.S834F|TP53BP1_uc001zrq.4_Missense_Mutation_p.S839F|TP53BP1_uc001zrr.4_Missense_Mutation_p.S839F|TP53BP1_uc010udq.1_Missense_Mutation_p.S839F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	834					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TAAAGGTAAGGAAGGCTGTGA	0.418000								Other conserved DNA damage response genes						65			53		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500305	179500305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179500305C>T	uc021vsy.1	-	175	34267	c.34042G>A	c.(34042-34044)Gaa>Aaa	p.E11348K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5043K|TTN_uc021vta.1_Missense_Mutation_p.E4976K|TTN_uc021vtb.1_Missense_Mutation_p.E4851K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12275	Glu-rich.|Pro-rich.						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)			TCATTTGGTTCCGCAGGGATT	0.388000														8			3		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086460	75086460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:75086460C>T	uc001dgg.3	-	7	1177	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G114R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	320										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						AGGTTTTCCCCACCACAGTGC	0.363000														96			32		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685728	248685728	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:248685728C>T	uc001ien.1	+	0	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGTACCTTCAACCGGCCAA	0.443000														57			68		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	720118	720118	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:720118C>T	uc001lqt.3	+	4	469	c.222C>T	c.(220-222)gcC>gcT	p.A74A	EPS8L2_uc010qwj.1_Silent_p.A74A|EPS8L2_uc001lqu.3_Silent_p.A74A|EPS8L2_uc010qwk.2_Silent_p.A74A|EPS8L2_uc001lqv.3_Silent_p.A29A|EPS8L2_uc001lqw.3_5'Flank|EPS8L2_uc001lqx.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	74	PID.					cytoplasm		p.A74T(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGACGACGCCATCCGGAAGC	0.612000														25			12		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109459056	109459056	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:109459056G>A	uc010agk.2	+	6	1393	c.771G>A	c.(769-771)aaG>aaA	p.K257K	MYO16_uc001vqt.1_Silent_p.K235K|MYO16_uc001vqu.1_Silent_p.K35K	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	235					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTGGCTACAAGGAGGTGGTGT	0.453000														59			25		0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221555	1221555	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:1221555C>T	uc001adt.1	+	6	1034	c.808C>T	c.(808-810)Ctc>Ttc	p.L270F	SCNN1D_uc001adu.1_Missense_Mutation_p.L106F|SCNN1D_uc001adw.2_Missense_Mutation_p.L172F|SCNN1D_uc001adv.2_Missense_Mutation_p.L106F|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGGGGCTCCTCTTTGAGCG	0.692000														8			6		0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65411104	65411104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:65411104G>A	uc002aol.3	-	4	1464	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	Homo sapiens programmed cell death 7 (PDCD7), mRNA.	470					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GGGGAGCGGGGGAAGGACCCA	0.502000														47			20		0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52937374	52937374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:52937374C>T	uc001wzs.3	-	14	1786	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	TXNDC16_uc010tqu.2_Missense_Mutation_p.R441K|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	446	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACAGTTTATTCTAGTAAGAAG	0.318000														49			26		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195487	124195487	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:124195487G>A	uc003ypv.3	+	1	2405	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	FAM83A_uc003ypw.3_Missense_Mutation_p.E131K|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.E131K|FAM83A_uc003ypy.3_Missense_Mutation_p.E131K|FAM83A_uc003ypz.3_Missense_Mutation_p.E131K	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	131										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCTGAAGGAAAAATCCAG	0.612000														107			32		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43687051	43687051	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:43687051C>T	uc003bdt.2	-	4	611	c.484_splice	c.e4+1	p.E162_splice	SCUBE1_uc003bdu.2_Splice_Site_p.E162_splice	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	162					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCTGTACTCACCATTGGAGCG	0.582000														10			9		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8592300	8592300	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:8592300T>G	uc002mkg.3	-	21	2534	c.2396A>C	c.(2395-2397)aAg>aCg	p.K799T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	799						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTCAGGTCCCTTCTTCACTTT	0.557000														22			17		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912014	150912014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:150912014G>A	uc004fey.1	+	6	1263	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	347					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)					CCCTGTAAAGGATGAGGAGTA	0.493000														15			56		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL									24			4		0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46394007	46394007	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:46394007G>A	uc002pdt.3	-	2	1161	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	358	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						CGCTCCTTGGGGCAATGATCA	0.692000														4			3		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56309927	56309927	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:56309927T>A	uc010rjl.2	-	0	807	c.807A>T	c.(805-807)gaA>gaT	p.E269D	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTATTTTAGATTCCTCAACAG	0.408000														36			27		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725137	106725137	+	RNA	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:106725137C>T	uc021ser.1	-	928		c.22341G>A								Parts of antibodies, mostly variable regions.																		CCGCTGATTTCCCCCCCATCG	0.587000														64			20		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672602	30672602	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:30672602G>A	uc003nrg.4	-	9	4798	c.4358C>T	c.(4357-4359)cCt>cTt	p.P1453L	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P1060L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1453	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGGAGCTCAGGGGCTGTGGG	0.567000								Other conserved DNA damage response genes						166			152		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174383	207174383	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:207174383G>A	uc002vbp.2	+	4	5381	c.5131G>A	c.(5131-5133)Gat>Aat	p.D1711N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1711							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCTGCAGTGGATTTTGGTGC	0.468000														18			12		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599700	136599700	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:136599700G>A	uc003qgx.1	-	3	572	c.319C>T	c.(319-321)Cga>Tga	p.R107*	BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R105*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R105*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R107*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	107					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAACGACCTCGTCTAGGACTC	0.478000														125			38		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346950	140346950	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140346950T>G	uc003lii.3	+	0	1204	c.599T>G	c.(598-600)cTg>cGg	p.L200R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.L200R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	200	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTAAGCCCCTGCAGGAGAAC	0.612000														3			14		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93762393	93762393	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:93762393C>T	uc001ybo.3	-	1	331	c.5G>A	c.(4-6)gGt>gAt	p.G2D	BTBD7_uc010aur.3_5'Flank|BTBD7_uc010two.2_5'Flank|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_5'Flank|BTBD7_uc001ybr.3_Missense_Mutation_p.G2D	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	2										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCATTAGCACCCATTTTCTT	0.448000														58			11		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117547	124117547	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:124117547C>T	uc003ehg.3	+	12	2296	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	KALRN_uc010hrv.1_Silent_p.D723D|KALRN_uc003ehf.1_Silent_p.D723D|KALRN_uc011bjy.1_Silent_p.D723D|KALRN_uc003ehh.1_Silent_p.D69D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	723					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCCACAGGGACTCGGCTGTGT	0.557000														187			83		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98709590	98709590	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:98709590A>T	uc002syo.3	+	1	299	c.35A>T	c.(34-36)gAg>gTg	p.E12V	VWA3B_uc010yvh.2_5'UTR|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.E12V|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	12										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCATCTCTGAGCAGCAGCTG	0.453000														27			35		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735237	55735237	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55735237G>A	uc010rit.2	-	0	703	c.703C>T	c.(703-705)Cac>Tac	p.H235Y		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACTATTAGGTGAGATGAGCAG	0.378000														16			15		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561243	147561243	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:147561243C>T	uc003ikv.3	+	1	761	c.513C>T	c.(511-513)caC>caT	p.H171H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	171	Poly-His.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGGGCACGcaccaccaccacc	0.672000														48			5		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379193	32379193	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:32379193A>C	uc002wzy.3	+	14	2455	c.2435A>C	c.(2434-2436)gAa>gCa	p.E812A	ZNF341_uc002wzx.3_Missense_Mutation_p.E805A|ZNF341_uc010geq.3_Missense_Mutation_p.E722A|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.E239A	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGGGCGCGGAAACTGAGCTG	0.706000														99			34		0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10804012	10804012	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:10804012C>T	uc021ylk.1	-	6	886	c.604G>A	c.(604-606)Ggg>Agg	p.G202R	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.G202R|MAK_uc021yll.1_Missense_Mutation_p.G202R|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	202	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCACTTGTCCCTGGGAAAAGT	0.378000														60			67		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413470	72413470	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:72413470C>T	uc003twk.2	+	10	2938	c.2938C>T	c.(2938-2940)Ccg>Tcg	p.P980S	POM121_uc003twj.3_Missense_Mutation_p.P715S|POM121_uc010lam.1_Missense_Mutation_p.P715S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	980	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGGGCAGCCACCGGGGGCCGC	0.657000														91			27		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114832644	114832645	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:114832644_114832645CC>TT	uc001tvo.3	-	5	1059_1060	c.564_565GG>AA	c.(562-567)gcggat>gcAAat	p.D189N	TBX5_uc001tvp.3_Missense_Mutation_p.D189N|TBX5_uc001tvq.3_Missense_Mutation_p.D139N|TBX5_uc010syv.2_Missense_Mutation_p.D189N	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	189					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTATTTTCATCCGCTTTCACGA	0.366000														176			82		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480812	57480812	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:57480812G>A	uc009vzx.1	-	11	1508	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	DAB1_uc001cyt.1_Silent_p.S394S|DAB1_uc001cyq.1_Silent_p.S394S|DAB1_uc001cyr.1_Silent_p.S310S|DAB1_uc009vzw.1_Silent_p.S378S|DAB1_uc001cys.1_Silent_p.S396S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	429					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTGACCTGGTGGAGTCACTCG	0.597000														68			43		0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165793867	165793867	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:165793867G>A	uc002ucw.2	-	5	773	c.442C>T	c.(442-444)Cca>Tca	p.P148S	SLC38A11_uc002ucu.2_Missense_Mutation_p.P126S|SLC38A11_uc002ucv.2_Missense_Mutation_p.P148S	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	148					amino acid transport|sodium ion transport	integral to membrane		p.G147W(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TACATGTGTGGACCCAGTGAA	0.358000														51			61		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84292059	84292059	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84292059G>A	uc021zcf.1	-	21	2061	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	SNAP91_uc011dzd.2_Silent_p.F180F|SNAP91_uc003pka.3_Silent_p.F675F|SNAP91_uc011dze.2_Silent_p.F675F|SNAP91_uc003pkc.3_Silent_p.F647F|SNAP91_uc003pkd.3_Silent_p.F370F|SNAP91_uc003pkb.3_Silent_p.F586F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	677					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAGGCGCCATGAAAGAACCCC	0.418000														10			4		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180163448	180163448	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:180163448C>T	uc001gnz.3	+	10	1464	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	QSOX1_uc001gny.3_Silent_p.S463S	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	463	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGCCTCCATGCACCGGG	0.622000														116			46		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421379	62421379	+	Silent	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:62421379A>C	uc002ygv.2	-	1	933	c.732T>G	c.(730-732)ccT>ccG	p.P244P	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTTGGCAGAAGGCAGCTCGC	0.567000														59			19		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474740	140474740	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140474740G>A	uc003lil.3	+	0	504	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	122	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A121V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGCGGAGCTACGGATTA	0.448000														9			57		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180031445	180031445	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:180031445C>T	uc001gnt.3	+	25	5736	c.5353C>T	c.(5353-5355)Cga>Tga	p.R1785*	CEP350_uc009wxl.2_Nonsense_Mutation_p.R1784*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1785						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAAAGATCCGACAGACCAC	0.383000														17			15		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349844	134349844	+	Silent	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:134349844G>T	uc003qem.1	-	1	1290	c.1119C>A	c.(1117-1119)acC>acA	p.T373T		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	373						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGCAGATATGGGTGAAGTTCA	0.468000														37			14		1.05317e-09	1.06918e-09	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47531996	47531996	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:47531996C>T	uc002zia.1	+	2	301	c.219C>T	c.(217-219)ttC>ttT	p.F73F	COL6A2_uc002zhz.1_Silent_p.F73F|COL6A2_uc002zhy.1_Silent_p.F73F	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	73	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGAAGCAGTTCGTGCCGCAGT	0.617000														49			31		0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153573856	153573856	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:153573856G>A	uc003imw.2	-	1	520	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	Homo sapiens transmembrane protein 154 (TMEM154), mRNA.	96						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATGTTGCAAGGAATACCACGG	0.318000														47			9		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254467	158254467	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:158254467A>C	uc003ipm.4	+	7	1576	c.1117A>C	c.(1117-1119)Att>Ctt	p.I373L	GRIA2_uc011cit.2_Missense_Mutation_p.I326L|GRIA2_uc003ipl.4_Missense_Mutation_p.I373L|GRIA2_uc003ipk.4_Missense_Mutation_p.I326L|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	373					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAACTATACAATTAACATCAT	0.383000														45			14		0	0	1	0	0
SPRED3	399473	broad.mit.edu	37	19	38882851	38882851	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:38882851G>A	uc002oim.3	+	3	351	c.347_splice	c.e3-1	p.G116_splice	SPRED3_uc002oil.1_Splice_Site_p.G116_splice	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	116					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCTGCCCCAGGCTCACTCAc	0.642000														7			10		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331808	100331808	+	RNA	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:100331808C>T	uc021sxl.1	-	1		c.1345G>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TCGGCCCATGCCAAGCAACCC	0.617000														43			80		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427387	5427388	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:5427387_5427388GG>AA	uc003soi.4	-	4	2416_2417	c.2067_2068CC>TT	c.(2065-2070)gcccgg>gcTTgg	p.R690W	TNRC18_uc010ksx.1_Missense_Mutation_p.R616W	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	690							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCTTCTGCCGGGCCACAGCCA	0.668000														70			32		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871203	35871203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:35871203G>A	uc003jjs.3	+	3	514	c.425G>A	c.(424-426)gGa>gAa	p.G142E	IL7R_uc011coo.2_Missense_Mutation_p.G142E|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	142	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E141E(1)		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)			TATCGGGAAGGAGCCAATGAC	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							80			28		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165655	51165655	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:51165655G>A	uc002psx.1	-	22	6072	c.6053C>T	c.(6052-6054)tCg>tTg	p.S2018L	SHANK1_uc002psw.1_Missense_Mutation_p.S1402L	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2018					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P2017H(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCAGGGACGAGGGCCTGGG	0.721000														6			8		0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27401036	27401036	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:27401036C>A	uc001iti.3	-	19	2402	c.2192G>T	c.(2191-2193)cGa>cTa	p.R731L	YME1L1_uc001itj.3_Missense_Mutation_p.R674L|YME1L1_uc010qdl.2_Missense_Mutation_p.R641L	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	731					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATGTTTTGCTCGTTCATATGA	0.383000														27			11		0.000151284	0.000152196	1	1	0
ROBO3	64221	broad.mit.edu	37	11	124742331	124742331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:124742331C>T	uc001qbc.3	+	7	1382	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	405	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCAGTGTCTCCAAGAGGCCA	0.612000														16			35		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	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					102			75		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73102459	73102459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:73102459G>A	uc003pga.3	+	30	4642	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E	RIMS1_uc011dyb.2_Missense_Mutation_p.G919E|RIMS1_uc003pgc.3_Missense_Mutation_p.G971E|RIMS1_uc010kaq.3_Missense_Mutation_p.G842E|RIMS1_uc011dyc.2_Missense_Mutation_p.G647E|RIMS1_uc010kar.3_Missense_Mutation_p.G590E|RIMS1_uc011dyd.2_Missense_Mutation_p.G656E|RIMS1_uc003pge.3_Missense_Mutation_p.G562E|RIMS1_uc003pgf.3_Missense_Mutation_p.G522E|RIMS1_uc003pgi.3_Missense_Mutation_p.G338E|RIMS1_uc003pgg.3_Missense_Mutation_p.G418E|RIMS1_uc003pgh.3_Missense_Mutation_p.G389E|RIMS1_uc003pgd.3_Missense_Mutation_p.G588E|RIMS1_uc011dye.2_Missense_Mutation_p.G328E|RIMS1_uc011dyf.2_Missense_Mutation_p.G146E|RIMS1_uc011dyg.2_Missense_Mutation_p.G49E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1522					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.G1522V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTCTTGATGGATTGGGACCA	0.408000														57			42		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645572	45645572	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:45645572T>A	uc001wwd.4	+	13	3714	c.3615T>A	c.(3613-3615)gaT>gaA	p.D1205E	FANCM_uc010anf.3_Missense_Mutation_p.D1179E|FANCM_uc001wwe.4_Missense_Mutation_p.D741E|FANCM_uc010ang.3_Missense_Mutation_p.D419E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1205					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATCTCGTGATCAGAGAGGTG	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					26			29		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898371	127898371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:127898371C>T	uc003qbh.3	+	0	53	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	14						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTAGTTGGTTCCTTTTCTGCT	0.512000														33			34		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247163358	247163358	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:247163358C>T	uc009xgu.3	-	1	207	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF695_uc001ica.3_Non-coding_Transcript|ZNF695_uc001icb.2_Non-coding_Transcript|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Missense_Mutation_p.D8N|ZNF695_uc001iby.3_Non-coding_Transcript|ZNF695_uc001icc.3_Missense_Mutation_p.D8N	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	8	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGAGCCACATCCCTGAATGCC	0.453000														31			30		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55087331	55087331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:55087331G>A	uc010ern.3	+	6	1479	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	LILRA1_uc002qgg.4_Missense_Mutation_p.G337E|LILRA1_uc002qgf.3_Missense_Mutation_p.G337E|LILRA1_uc010yfe.1_Missense_Mutation_p.G337E|LILRA1_uc010yff.1_Missense_Mutation_p.G325E|LILRA1_uc010ero.3_Missense_Mutation_p.G325E|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	339	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTAGCCCCAGGAAAGAACGTG	0.592000														33			25		0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155292770	155292770	+	Silent	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:155292770A>C	uc001fkj.2	+	1	1435	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1-AS1_uc001fkh.1_5'Flank|RUSC1-AS1_uc001fki.3_Intron|RUSC1_uc001fkk.2_Silent_p.P402P|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	402						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726000														12			5		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027004	38027004	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:38027004A>G	uc002hte.3	+	2	329	c.176A>G	c.(175-177)aAg>aGg	p.K59R	ZPBP2_uc002htf.3_Missense_Mutation_p.K37R	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	59					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGATTTTAAGCTTTCTAAA	0.279000														24			17		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73809297	73809297	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:73809297A>C	uc001ouu.2	-	15	2963	c.2736T>G	c.(2734-2736)gaT>gaG	p.D912E		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	912						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATCTTAGCATCTCTAGAGG	0.403000														44			24		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134346612	134346612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:134346612C>T	uc010hty.3	-	4	448	c.386G>A	c.(385-387)gGg>gAg	p.G129E	KY_uc011blw.2_Missense_Mutation_p.G129E|KY_uc011blx.2_Missense_Mutation_p.G108E|KY_uc003eqs.1_Missense_Mutation_p.G149E	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	129						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGCATCTTTCCCTCCAGGTTG	0.418000														20			12		0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103003164	103003164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:103003164C>T	uc003vbs.3	+	5	642	c.454C>T	c.(454-456)Cca>Tca	p.P152S	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|PSMC2_uc011klo.2_Missense_Mutation_p.P15S	NM_002803	NP_002794	P35998	PRS7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 2 (PSMC2), transcript variant 1, mRNA.	152					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCACATTCCATTGCCTCC	0.328000														109			75		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3429917	3429917	+	Splice_Site	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:3429917T>G	uc010qxs.1	+	11		c.1015_splice	c.e11-1		LOC650368_uc001lxy.2_Splice_Site					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		TTTTTGCAGGTGCTTTTCTCA	0.552000														24			18		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283290	152283290	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152283290C>T	uc001ezu.1	-	2	4108	c.4072G>A	c.(4072-4074)Gga>Aga	p.G1358R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1358	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGGGATCCATGTCTTTCT	0.547000									Ichthyosis					361			411		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74834230	74834230	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:74834230G>A	uc002smy.3	-	3	664	c.547C>T	c.(547-549)Cta>Tta	p.L183L	C2orf65_uc010ysa.2_Silent_p.L183L|C2orf65_uc002smz.2_Silent_p.L183L	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	183					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						ACGTGCTCTAGGATTCCCTTT	0.428000														65			19		0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544275	23544275	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:23544275G>A	uc002nre.3	-	3	1619	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Silent_p.S470S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	502						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAAGGGTTGAGGATTGCCTAA	0.368000														56			24		0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33319026	33319026	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:33319026C>T	uc002hik.2	+	6	1387	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	LIG3_uc002hij.3_Silent_p.L420L|LIG3_uc010cth.1_Silent_p.L429L	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	420					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAAACATGATCTGAAGATGAA	0.458000								Other BER factors						60			40		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838012	176838012	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:176838012G>A	uc001glc.3	-	21	3827	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F	ASTN1_uc001glb.1_Silent_p.F1205F|ASTN1_uc001gld.1_Silent_p.F1205F	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1213					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCGCCAGGTGAATTCCCCAA	0.473000														156			54		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83222287	83222287	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:83222287G>A	uc002bit.3	-	6	1310	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	CPEB1_uc002bir.3_Silent_p.F256F|CPEB1_uc002bis.3_Silent_p.F256F|CPEB1_uc010uod.2_Silent_p.F105F|CPEB1_uc002biq.3_Silent_p.F256F|CPEB1_uc010uoe.2_Silent_p.F334F|CPEB1_uc002biu.3_Silent_p.F358F|CPEB1_uc010uof.2_Silent_p.F256F|CPEB1_uc002biv.3_Silent_p.F331F|CPEB1_uc002bip.3_Silent_p.F105F	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	331	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAAAAACACGGAAGGTGTTAA	0.458000														24			51		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088638	86088638	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:86088638G>A	uc021rxf.1	+	0	780	c.780G>A	c.(778-780)caG>caA	p.Q260Q	FLRT2_uc001xvr.3_Silent_p.Q260Q|FLRT2_uc010atd.3_Silent_p.Q260Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	260					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCTATTTGCAGGACAACCAGA	0.488000														90			54		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4247874	4247874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:4247874G>A	uc002cvz.4	-	3	315	c.302C>T	c.(301-303)cCg>cTg	p.P101L	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	560	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AACACTCCACGGTCCCAGGAA	0.423000														39			34		0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99521204	99521204	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:99521204C>T	uc011kjd.2	-	1	804	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	268						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tttgtttttcctgggctaagc	0.423000														57			43		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058034	9058034	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:9058034C>T	uc002mkp.3	-	2	29616	c.29412G>A	c.(29410-29412)gaG>gaA	p.E9804E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9806	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGAATTTTCTCTGTATCTG	0.453000														33			23		0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	195069	195069	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:195069G>A	uc003jal.1	+	1	1174	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	382										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGCTGATCCTGGGCCTGAGCC	0.667000														22			5		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118635909	118635909	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:118635909A>G	uc001ehk.2	-	7	1111	c.1043T>C	c.(1042-1044)aTt>aCt	p.I348T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	348						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAAGCAGGCAATATTTTCAAA	0.363000														10			3		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108072074	108072074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:108072074G>A	uc004bcn.3	+	2	417	c.196G>A	c.(196-198)Gga>Aga	p.G66R		NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	66						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CGACAGCTATGGAAATATCTG	0.413000														43			32		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100497219	100497219	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:100497219C>T	uc003dun.3	-	26	2193	c.2108_splice	c.e26-1	p.G703_splice	ABI3BP_uc003duj.3_Splice_Site_p.G283_splice|ABI3BP_uc003duk.3_Splice_Site_p.G412_splice|ABI3BP_uc003dul.3_Splice_Site_p.G533_splice|ABI3BP_uc011bhd.2_Splice_Site_p.G657_splice|ABI3BP_uc003dum.3_Splice_Site_p.G114_splice	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	703	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGCGGCGAGTCCCTGGGATTG	0.398000														39			14		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954593	38954593	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:38954593C>T	uc002hvh.1	-	2	650	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	195	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.N194N(2)|p.G195R(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCGCCGTAATCCGTTGATGTC	0.498000														50			37		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015312	75015312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:75015312G>A	uc002ayp.4	-	1	249	c.127C>T	c.(127-129)Cca>Tca	p.P43S	CYP1A1_uc010bjy.3_Missense_Mutation_p.P43S|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.P43S|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Missense_Mutation_p.P43S	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	43					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CAGCCCCATGGCCCTGGTGGA	0.572000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					28			17		0	0	1	0	0
SPRR2A	6700	broad.mit.edu	37	1	153029049	153029049	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:153029049G>A	uc021ozr.1	-	0	163	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2A_uc001fbf.3_Non-coding_Transcript|SPRR2A_uc001fbd.3_Missense_Mutation_p.P55S	NM_005988	NP_005979	P35326	SPR2A_HUMAN	Homo sapiens small proline-rich protein 2A (SPRR2A), mRNA.	55					keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.542000														281			90		0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66844668	66844668	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:66844668C>T	uc002eqf.3	-	13	1119	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	NAE1_uc002eqe.3_Missense_Mutation_p.E342K|NAE1_uc002eqg.3_Missense_Mutation_p.E259K|NAE1_uc010cdv.3_Missense_Mutation_p.E351K	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	348					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTGCTTTTTCACGGTAACTA	0.358000														77			45		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173622	49173622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:49173622G>A	uc002pkb.3	-	1	718	c.622C>T	c.(622-624)Cct>Tct	p.P208S	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Missense_Mutation_p.P208S	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	208	Laminin EGF-like 1.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CGTAGGCAAGGGTGGGGGTGC	0.697000														0			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425166	179425166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179425166C>T	uc021vsy.1	-	274	78214	c.77989G>A	c.(77989-77991)Gaa>Aaa	p.E25997K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19692K|TTN_uc021vta.1_Missense_Mutation_p.E19625K|TTN_uc021vtb.1_Missense_Mutation_p.E19500K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26924	Fibronectin type-III 89.						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)			GTCATAGATTCTTTGGTCACA	0.428000														23			10		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756888	71756888	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:71756888C>A	uc003kce.1	-	1	622	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCTTGCCCCCAAAGTGTTCC	0.622000														114			204		8.94944e-101	9.21144e-101	1	1	0
KLK6	5653	broad.mit.edu	37	19	51470496	51470496	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:51470496C>T	uc002puh.3	-	1	218	c.153G>A	c.(151-153)tcG>tcA	p.S51S	KLK6_uc010eoj.3_Silent_p.S42S|KLK6_uc002pui.3_Silent_p.S42S|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_Intron|KLK6_uc002pul.3_Silent_p.S42S|KLK6_uc002pum.3_Intron	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	42	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCAAGTGGCCCGAGGTGTAGA	0.557000														67			29		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142234333	142234334	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:142234333_142234334GG>AA	uc003eux.4	-	24	4528_4529	c.4406_4407CC>TT	c.(4405-4407)acc>aTT	p.T1469I		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1469					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						CAGACCAATCGGTTGACTTCTG	0.327000								Other conserved DNA damage response genes						16			15		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39500170	39500170	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:39500170T>G	uc003thb.2	+	9	1570	c.1427T>G	c.(1426-1428)gTg>gGg	p.V476G	POU6F2_uc022acb.1_Missense_Mutation_p.V476G	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	476	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCGGGTGAGGTGGATGGGGTT	0.478000														33			21		0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53459651	53459651	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:53459651T>C	uc001sbt.2	-	10	1381	c.1294A>G	c.(1294-1296)Aaa>Gaa	p.K432E		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	432										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACTTTGACTTTCTCCCCGCAG	0.562000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			20		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157489	22157489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:22157489C>T	uc021urr.1	-	3	496	c.347G>A	c.(346-348)gGt>gAt	p.G116D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				ATTGGTATAACCAATTTTTAA	0.358000														45			23		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34549973	34549973	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:34549973G>A	uc001zhw.3	-	4	724	c.560C>T	c.(559-561)aCc>aTc	p.T187I	SLC12A6_uc001zhv.3_Missense_Mutation_p.T136I|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.T172I|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.T128I|SLC12A6_uc001zib.3_Missense_Mutation_p.T178I|SLC12A6_uc001zic.3_Missense_Mutation_p.T187I|SLC12A6_uc010bau.3_Missense_Mutation_p.T187I|SLC12A6_uc001zid.3_Missense_Mutation_p.T128I|SLC12A6_uc001zhu.3_Intron	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	187					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACCCATGAAGGTACCCATTTG	0.398000														20			10		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798741	55798741	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55798741C>T	uc010riw.2	+	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTGTATTTCCCATGTTTAA	0.348000														24			12		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75442084	75442084	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:75442084G>A	uc001sxg.1	-	3	2173	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	KCNC2_uc009zry.3_Silent_p.D543D|KCNC2_uc001sxe.3_Silent_p.D543D|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	543					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CTGTACTGTCGTCACCTGATA	0.493000														28			24		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373012	24373012	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:24373012C>T	uc002dmf.3	+	3	1978	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	259					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACCATCCCTTCCACTGACATC	0.592000														93			46		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657732	72657732	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:72657732G>A	uc003txs.1	-	12	2180	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ttcagggtgggaaagtgggcc	0.483000														176			138		0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118851424	118851424	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:118851424G>T	uc001pui.3	+	4	1061	c.836G>T	c.(835-837)tGc>tTc	p.C279F	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_Missense_Mutation_p.C110F	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	279					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		ATCCAACAGTGCATGAGCCAG	0.607000														5			10		0.010729	0.0107451	1	1	0
TIMP4	7079	broad.mit.edu	37	3	12195173	12195173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:12195173G>A	uc003bwo.3	-	4	1028	c.517C>T	c.(517-519)Cct>Tct	p.P173S	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	173							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CACTCGTTAGGGGCCGAGATG	0.507000														90			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414578	179414578	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179414578A>T	uc021vsy.1	-	286	84392	c.84167T>A	c.(84166-84168)gTt>gAt	p.V28056D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V21751D|TTN_uc021vta.1_Missense_Mutation_p.V21684D|TTN_uc021vtb.1_Missense_Mutation_p.V21559D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28983	Fibronectin type-III 104.						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)			TATTGGCCCAACTACTTTTCC	0.398000														38			36		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85447026	85447026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:85447026G>A	uc003pkl.1	-	7	1201	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	401					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H401Y(2)|p.F400L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCCCCAGATGGAAGGCAGGA	0.577000														40			38		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31529469	31529469	+	Splice_Site	SNP	G	C	C	rs5997883		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:31529469G>C	uc003aju.4	+	11	2501	c.2409_splice	c.e11+1	p.Q803_splice	INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Splice_Site_p.Q435_splice|INPP5J_uc003ajv.4_Splice_Site_p.Q436_splice|INPP5J_uc003ajs.4_Splice_Site_p.Q436_splice|INPP5J_uc011alk.2_Splice_Site_p.Q736_splice|INPP5J_uc010gwg.3_Splice_Site_p.Q368_splice	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	803	Required for ruffle localization (By similarity).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						ATACCTACCAGGTACTTAAAA	0.537000														26			24		0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777611	152777611	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152777611C>T	uc021ozi.1	-	0	344	c.344G>A	c.(343-345)gGa>gAa	p.G115E	LCE1C_uc001fap.1_Missense_Mutation_p.G115E	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	115	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCAGCCTCCAGAGTGCTG	0.657000														99			49		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158613207	158613207	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:158613207C>T	uc001fst.1	-	30	4546	c.4347G>A	c.(4345-4347)aaG>aaA	p.K1449K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1449					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	p.G1448W(1)|p.K1449*(1)		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)					GGTCAGTGATCTTCCCTTCCT	0.463000														68			19		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940839	21940839	+	Silent	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:21940839T>G	uc003svc.3	+	82	13570	c.13539T>G	c.(13537-13539)gtT>gtG	p.V4513V	CDCA7L_uc003sve.4_3'UTR|CDCA7L_uc010kuk.3_3'UTR|CDCA7L_uc010kul.3_3'UTR|CDCA7L_uc003svf.4_3'UTR	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4513					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAAATGGGTTCTGGCTGGAG	0.512000									Kartagener syndrome					57			36		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873586	2873586	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:2873586C>T	uc002lwp.1	+	1	183	c.96C>T	c.(94-96)gtC>gtT	p.V32V	ZNF556_uc002lwq.3_Silent_p.V32V	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGATGTCATGCTGGAGA	0.448000														93			36		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126667027	126667027	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:126667027G>A	uc003kuh.4	+	2	389	c.27G>A	c.(25-27)ctG>ctA	p.L9L	MEGF10_uc010jdc.1_Silent_p.L9L|MEGF10_uc010jdd.1_Silent_p.L9L|MEGF10_uc003kui.4_Silent_p.L9L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	9	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTCATGCCTGAGCTTTATTT	0.363000														162			47		0	0	1	0	0
DNAJC27	51277	broad.mit.edu	37	2	25179971	25179971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:25179971C>T	uc002rft.2	-	4	659	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	DNAJC27_uc010ykn.1_Missense_Mutation_p.G86R|DNAJC27_uc010eyg.2_Missense_Mutation_p.G157R|DNAJC27_uc002rfu.2_Non-coding_Transcript	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 27 (DNAJC27), transcript variant 1, mRNA.	157					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TACAGGAACCCTTTGCTTTCA	0.433000														47			33		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434151	72434151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:72434151C>T	uc004ebi.3	-	0	560	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	60					nucleosome assembly	chromatin assembly complex		p.G59V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCACCGTTTTCCCCTTCTTCC	0.582000														2			23		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275702	114275702	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:114275702C>T	uc003ibe.4	+	37	6028	c.5928C>T	c.(5926-5928)tcC>tcT	p.S1976S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.S1991S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1943					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACCTGTATCCCCCACTTCAA	0.483000														172			28		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69728368	69728368	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:69728368C>T	uc010kak.3	+	11	2360	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L	BAI3_uc003pev.4_Missense_Mutation_p.S695L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	695					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTCAGAATTCATACTTAATG	0.328000														61			26		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17033884	17033884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:17033884C>T	uc001azn.1	-	3	595	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ESPNP_uc010ocj.1_3'UTR					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		ACTTCCAGCTCCGCGCCGTTC	0.721000														7			5		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195506005	195506005	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:195506005A>C	uc021xjp.1	-	1	12602	c.12446T>G	c.(12445-12447)aTc>aGc	p.I4149S	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	916					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.I4149S(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGGGATGGTGACAGG	0.587000														2			2		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114484769	114484769	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:114484769T>A	uc004bfr.3	-	12	1994	c.1859A>T	c.(1858-1860)aAa>aTa	p.K620I	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.K581I|C9orf84_uc010mug.3_Missense_Mutation_p.K566I	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	620										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTGGCAAATTTCCAATTAGC	0.408000														28			38		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904239	88904239	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:88904239G>A	uc001xwq.3	+	11	1694	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	SPATA7_uc001xwr.3_Missense_Mutation_p.E393K|SPATA7_uc001xws.3_Missense_Mutation_p.E361K|SPATA7_uc001xwt.3_Missense_Mutation_p.E319K|SPATA7_uc001xwu.3_Missense_Mutation_p.E81K	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	425					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CACATCGGAGGAAAACTCGGT	0.353000														63			34		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168620526	168620526	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:168620526G>A	uc010jjg.3	-	3	790	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	SLIT3_uc003mab.3_Missense_Mutation_p.L124F|SLIT3_uc010jji.2_Missense_Mutation_p.L124F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	124					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTCTGGAAGGACTTGCAGC	0.473000														17			71		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108069	151108069	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:151108069G>A	uc001ewv.3	-	13	1767	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	SEMA6C_uc001ewu.3_Silent_p.A477A|SEMA6C_uc001eww.3_Silent_p.A437A	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	477	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCTCACCGGGCAGGGCTGT	0.602000														156			65		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396716	197396716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:197396716C>T	uc001gtz.3	+	6	2470	c.2261C>T	c.(2260-2262)gCt>gTt	p.A754V	CRB1_uc010poz.2_Missense_Mutation_p.A685V|CRB1_uc009wza.3_Missense_Mutation_p.A642V|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.A235V|CRB1_uc001gub.1_Missense_Mutation_p.A403V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	754	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A754D(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACTTCTAGCTTTGGAAAAC	0.438000														46			9		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231815	67231815	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:67231815C>T	uc002lkl.3	+	1	356	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	53	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGCTTATTTCAGAAACTTTC	0.408000														47			7		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71851101	71851101	+	Silent	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:71851101G>T	uc004ahe.3	+	12	2256	c.1938G>T	c.(1936-1938)ctG>ctT	p.L646L	TJP2_uc011lrs.2_Silent_p.L623L|TJP2_uc011lrt.1_Silent_p.L623L|TJP2_uc004ahd.3_Silent_p.L646L|TJP2_uc004ahf.3_Silent_p.L646L|TJP2_uc011lru.2_Silent_p.L650L|TJP2_uc011lrv.2_Silent_p.L677L	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	646	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCAACTGGCTGGCTGTGAGGA	0.522000														60			32		2.05212e-20	2.09926e-20	1	1	0
CYP4F11	57834	broad.mit.edu	37	19	16038055	16038055	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:16038055C>T	uc002nbu.2	-	4	528	c.492G>A	c.(490-492)atG>atA	p.M164I	CYP4F11_uc010eab.1_Missense_Mutation_p.M164I|CYP4F11_uc002nbt.2_Missense_Mutation_p.M164I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	164					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGAAAATCTTCATATAAGGCT	0.542000														37			25		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537435	31537435	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:31537435G>T	uc010dmi.3	-	7	1581	c.1283C>A	c.(1282-1284)cCa>cAa	p.P428Q	NOL4_uc010xbs.2_Missense_Mutation_p.P143Q|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.P354Q|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	428						nucleolus	RNA binding	p.P428Q(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTAGAGATTGGGACCATTCG	0.478000														27			13		7.93312e-07	8.01713e-07	1	1	0
AMPD2	271	broad.mit.edu	37	1	110163659	110163659	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:110163659C>T	uc009wfh.1	+	1	566	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Silent_p.L8L|AMPD2_uc010ovr.1_5'UTR|AMPD2_uc010ovs.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	8					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGGGCCTCTTCCGCCTGC	0.672000														38			16		0	0	1	0	0
HESX1	8820	broad.mit.edu	37	3	57232422	57232422	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:57232422G>A	uc003din.4	-	2	790	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	Homo sapiens HESX homeobox 1 (HESX1), mRNA.	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		AAATTACCTGGATTCTGTCTT	0.279000														22			8		0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15511107	15511107	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:15511107C>T	uc002naw.1	-	8	1147	c.1048_splice	c.e8+1	p.G350_splice	AKAP8L_uc002nax.1_Splice_Site|AKAP8L_uc010xoh.1_Splice_Site_p.G289_splice|AKAP8L_uc002nay.1_Silent_p.K349K	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	350						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAAACTCACCCTTCTCTGGAT	0.557000														43			36		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371229	84371229	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84371229C>T	uc021zcf.1	-	3	474	c.444G>A	c.(442-444)gtG>gtA	p.V148V	SNAP91_uc003pka.3_Silent_p.V148V|SNAP91_uc011dze.2_Silent_p.V148V|SNAP91_uc003pkc.3_Silent_p.V148V|SNAP91_uc003pkd.3_Silent_p.V148V|SNAP91_uc003pkb.3_Silent_p.V113V|SNAP91_uc011dzf.1_Silent_p.V29V	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	148					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.R147K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCCTTTCTTCACCCTGGCAA	0.338000														18			10		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436157	5436157	+	Missense_Mutation	SNP	G	A	A	rs149499697	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:5436157G>A	uc001ihy.3	-	3	702	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	TUBAL3_uc001ihz.3_Missense_Mutation_p.R182C	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	222					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCGAGTTTACGATGGCATATA	0.522000														42			21		0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029590	49029590	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:49029590C>T	uc004dmx.3	+	1	375	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_002668	NP_002659	Q04941	PLP2_HUMAN	Homo sapiens proteolipid protein 2 (colonic epithelium-enriched) (PLP2), mRNA.	71	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CATGTGTGACCTGCACACCAA	0.527000														8			27		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46311865	46311865	+	Missense_Mutation	SNP	C	T	T	rs147131391		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:46311865C>T	uc002xto.3	-	6	1267	c.937G>A	c.(937-939)Gta>Ata	p.V313I	SULF2_uc002xtr.3_Missense_Mutation_p.V313I|SULF2_uc002xtq.3_Missense_Mutation_p.V313I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	313					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCGGTGTATACGATGTACGTG	0.572000														103			23		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7013944	7013944	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:7013944G>A	uc002knm.3	-	22	3327	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	LAMA1_uc010wzj.2_Missense_Mutation_p.S554F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1078	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTAACCCAAGGAACACTGATC	0.592000														15			8		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465848	61465848	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:61465848G>A	uc002ljl.3	+	5	561	c.465G>A	c.(463-465)aaG>aaA	p.K155K	SERPINB7_uc002ljm.3_Silent_p.K155K|SERPINB7_uc010xet.2_Silent_p.K138K|SERPINB7_uc010dqg.3_Silent_p.K155K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	155					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.I154M(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCAAAATCAAGAACGTGATTG	0.338000														75			26		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926650	157926650	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:157926650C>T	uc003wno.3	-	8	1396	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	PTPRN2_uc003wnp.3_Silent_p.R408R|PTPRN2_uc003wnq.3_Silent_p.R425R|PTPRN2_uc003wnr.3_Silent_p.R387R|PTPRN2_uc011kwa.2_Silent_p.R448R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	425						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)		CGGACTTCTTCCTCTCCATGT	0.597000														14			75		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624818	154624818	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:154624818G>A	uc003inq.3	+	2	978	c.759G>A	c.(757-759)aaG>aaA	p.K253K	TLR2_uc003inr.3_Silent_p.K253K|TLR2_uc003ins.3_Silent_p.K253K|TLR2_uc021xtl.1_Silent_p.K253K	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	253					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TGATTAAAAAGTTTACATTTA	0.323000														17			10		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12921031	12921032	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:12921031_12921032GG>AA	uc002gnz.4	-	0	350_351	c.233_234CC>TT	c.(232-234)tcc>tTT	p.S78F	ELAC2_uc010vvp.2_Intron|ELAC2_uc010vvq.2_Missense_Mutation_p.S78F|ELAC2_uc010vvr.2_Missense_Mutation_p.S78F	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	78					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGTTGAACTCGGAGAAGACGTA	0.708000														25			15		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186571	37186571	+	RNA	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:37186571C>T	uc002hrd.1	+	0		c.413C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AGCAAGAGTTCCCAGCTGAGC	0.587000														1			4		0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556176	176556176	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:176556176C>T	uc003iuf.3	-	6	1521	c.717G>A	c.(715-717)tgG>tgA	p.W239*	GPM6A_uc011ckj.2_Nonsense_Mutation_p.W232*|GPM6A_uc003iug.3_Nonsense_Mutation_p.W239*|GPM6A_uc003iuh.3_Nonsense_Mutation_p.W228*	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	239						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCACATAGGCCCAGTTGGCAG	0.433000														50			5		0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211299265	211299265	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:211299265G>A	uc010zjh.2	-	9	1221	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	LANCL1_uc002ved.3_Silent_p.F382F|LANCL1_uc010fuq.3_Silent_p.F382F	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	382						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGTCAGCCAGGAAATATATTG	0.433000														45			33		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3664730	3664730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:3664730G>A	uc002fwo.4	-	4	499	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	134					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCTGGGGACGGAGGTCAGGG	0.562000														55			37		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968833	119968833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:119968833G>A	uc001txe.3	+	12	1981	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	506										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAGGATTTGGGAACTGTGCTC	0.502000														68			38		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23192830	23192830	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:23192830C>T	uc021wml.1	+	372		c.15126_splice	c.e372+2		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		CAGTGATGAGCCCACAGTGAC	0.537000														5			10		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215031	141215031	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:141215031C>T	uc002tvj.1	-	61	10786	c.9814_splice	c.e61+1	p.V3272_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3272					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		AGAATAATTACCATCAGGTTG	0.333000										TSP Lung(27;0.18)				86			31		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227912266	227912266	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:227912266C>T	uc021vxr.1	-	34	3316	c.3215_splice	c.e34-1	p.G1072_splice	COL4A4_uc021vxs.1_Splice_Site_p.G1072_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1072	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTGTTTCCTGAAAGGGAT	0.413000														27			7		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237850	38237850	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:38237850G>A	uc010abx.3	-	5	1626	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	TRPC4_uc010abv.3_Missense_Mutation_p.P44L|TRPC4_uc001uwt.3_Missense_Mutation_p.P464L|TRPC4_uc001uws.3_Missense_Mutation_p.P464L|TRPC4_uc010tey.2_Missense_Mutation_p.P464L|TRPC4_uc010abw.3_Missense_Mutation_p.P291L|TRPC4_uc010aby.3_Missense_Mutation_p.P464L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	464					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGATTCTCGTGGATTAAGGGC	0.418000														19			12		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39855359	39855359	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:39855359T>C	uc003oow.3	+	15	2190	c.2051T>C	c.(2050-2052)cTt>cCt	p.L684P	DAAM2_uc003oox.3_Missense_Mutation_p.L684P|AX747174_uc003ooz.1_5'Flank	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	684	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGCATCATCCTTCTTTCCAAG	0.562000														30			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518099	8518099	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:8518099G>A	uc003zkk.3	-	20	2035	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	PTPRD_uc003zkp.3_Missense_Mutation_p.S431L|PTPRD_uc003zkq.3_Missense_Mutation_p.S431L|PTPRD_uc003zkr.3_Missense_Mutation_p.S425L|PTPRD_uc003zks.3_Missense_Mutation_p.S421L|PTPRD_uc022bdj.1_Missense_Mutation_p.S428L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	431	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S431*(5)		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)		AATGGTGGTCGAACTCAACAT	0.502000										TSP Lung(15;0.13)				122			51		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73744598	73744598	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:73744598G>C	uc004ebt.2	+	2	1368	c.1202G>C	c.(1201-1203)gGa>gCa	p.G401A	SLC16A2_uc010nlr.1_Missense_Mutation_p.G76A	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	327						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TGGGCCTTCGGAATTGCTGCT	0.577000														12			42		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	T	T	rs111245273	by1000genomes	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552000														70			4		3.59834e-05	3.62547e-05	1	1	0
UROC1	131669	broad.mit.edu	37	3	126220114	126220114	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:126220114C>T	uc010hsi.2	-	10	1146	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	UROC1_uc003eiz.2_Silent_p.R304R	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	304					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTTTTTTTTCCTTGCTTCCC	0.582000														120			48		0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48658415	48658415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:48658415C>T	uc011bbo.2	-	1	340	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	114						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGATTGGGGCCCGCCGTTTC	0.632000														45			29		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3085306	3085306	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:3085306G>A	uc003bpc.3	+	22	3068	c.2729G>A	c.(2728-2730)tGg>tAg	p.W910*	CNTN4_uc021wsg.1_Nonsense_Mutation_p.W910*|CNTN4_uc003bpe.3_Nonsense_Mutation_p.W582*|CNTN4_uc003bpf.3_Nonsense_Mutation_p.W581*|CNTN4_uc003bpg.3_Nonsense_Mutation_p.W166*	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	910	Fibronectin type-III 4.				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			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)		AACATCATATGGAATTCATCA	0.358000														49			32		0	0	1	0	0
GLOD5	392465	broad.mit.edu	37	X	48631747	48631747	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:48631747G>A	uc011mmh.2	+	3	420	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_001080489	NP_001073958			Homo sapiens glyoxalase domain containing 5 (GLOD5), mRNA.											endometrium(1)|lung(2)	3						CCCTATTGAGGAGGGGCCAGT	0.453000														7			22		0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734552	16734552	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:16734552G>A	uc010vwr.1	-	3	909	c.467C>T	c.(466-468)gCc>gTc	p.A156V						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		GCCAGGTGCGGCATCCATCTC	0.592000														63			19		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158283932	158283932	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:158283932C>T	uc002tzj.1	-	6	549	c.477_splice	c.e6-1	p.T159_splice	CYTIP_uc010zcl.1_Splice_Site_p.T53_splice	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	159	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAGTCTCTATCCTGTTTTAAG	0.358000														11			8		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835827	50835827	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:50835827G>A	uc001jhz.2	+	6	1260	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V	CHAT_uc001jhv.1_Silent_p.V251V|CHAT_uc001jhx.1_Silent_p.V251V|CHAT_uc001jhy.1_Silent_p.V251V|CHAT_uc001jia.2_Silent_p.V287V|CHAT_uc010qgs.1_Silent_p.V251V	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	369					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CGGTCCTCGTGAAAGGTCAGC	0.612000														17			7		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088438	92088438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:92088438G>A	uc001pdj.4	+	0	3177	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1054	Cadherin 10.				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)				ATCTGTAAAGGAAAACTCACG	0.493000										TCGA Ovarian(4;0.039)				40			21		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600839	141600839	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:141600839G>A	uc010ioj.3	-	3	791	c.519C>T	c.(517-519)gtC>gtT	p.V173V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	173	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCTGACGGGGGACCTTCCCCT	0.423000														21			27		0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11606380	11606380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:11606380G>A	uc010hdx.1	-	2	792	c.386C>T	c.(385-387)tCc>tTc	p.S129F	VGLL4_uc003bwf.2_Missense_Mutation_p.S123F|VGLL4_uc003bwg.2_Missense_Mutation_p.S128F|VGLL4_uc010hdv.1_Missense_Mutation_p.S39F|VGLL4_uc010hdw.1_Missense_Mutation_p.S43F|VGLL4_uc011aun.1_Missense_Mutation_p.S64F	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GCTGGGGAGGGAGGTGTACAG	0.711000														27			24		0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26976114	26976114	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:26976114C>T	uc002yln.3	-	2	428	c.414G>A	c.(412-414)gtG>gtA	p.V138V	MRPL39_uc002ylo.3_Silent_p.V138V	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	Homo sapiens mitochondrial ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	138						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ATACCTTATTCACTTCTCCTG	0.358000														30			18		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108315580	108315580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:108315580C>T	uc003ymn.3	-	4	1292	c.824G>A	c.(823-825)gGa>gAa	p.G275E	ANGPT1_uc011lhv.2_Missense_Mutation_p.G75E|ANGPT1_uc003ymo.3_Missense_Mutation_p.G274E|ANGPT1_uc003ymp.4_Missense_Mutation_p.G74E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	275					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G275E(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTCTCTTTTTCCTCCCTTTAG	0.313000														51			31		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102219	102219	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrGL000209.1:102219G>A	uc021vdb.1	+	2	165	c.154G>A	c.(154-156)Gat>Aat	p.D52N	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.D52N	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	52	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										ATGTTGGTCAGATGTCATGTT	0.512000														22			51		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357863	38357863	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:38357863C>T	uc003cib.2	+	8	1654	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLC22A14_uc010hhc.1_Silent_p.I527I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	527						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGGAGCCATCTTGTCCCTGA	0.627000														66			50		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349627	100349627	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:100349627C>T	uc003uwj.3	+	13	2064	c.1899C>T	c.(1897-1899)ccC>ccT	p.P633P	ZAN_uc003uwk.3_Silent_p.P633P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	633	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACCCACCATTCCCT	0.502000														66			63		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867716	6867716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:6867716C>T	uc001met.1	+	0	803	c.803C>T	c.(802-804)tCt>tTt	p.S268F		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAAATAATTCTCCTGAGAGC	0.418000														107			63		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736882	113736882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:113736882G>A	uc002tio.1	+	2	209	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	IL36G_uc010fkr.1_Intron	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	47					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCAGTTCCACGAAGTGACAGT	0.493000														52			21		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222320320	222320320	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:222320320C>T	uc002vmq.3	-	7	1704	c.1662G>A	c.(1660-1662)tcG>tcA	p.S554S	EPHA4_uc002vmr.2_Silent_p.S554S|EPHA4_uc010zlm.1_Silent_p.S495S	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	554						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCACACTGCCCGAGACAGAGA	0.537000														56			17		0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89326027	89326027	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:89326027G>A	uc011cdi.2	+	9	1276	c.1093_splice	c.e9-1	p.D365_splice	HERC6_uc011cdj.2_Splice_Site_p.D365_splice|HERC6_uc011cdk.2_Intron|HERC6_uc011cdl.2_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	365					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTCCCTGAAGGATACTAGTT	0.453000														63			9		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396774	43396774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:43396774G>A	uc001cik.2	-	2	743	c.218C>T	c.(217-219)tCt>tTt	p.S73F		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	73					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GCCCCCAACAGAAAAGATGGC	0.587000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			26		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43508577	43508577	+	Silent	SNP	G	T	T	rs143575715		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:43508577G>T	uc001zrb.4	-	1	475	c.175C>A	c.(175-177)Cgg>Agg	p.R59R	EPB42_uc001zra.4_Silent_p.R29R|EPB42_uc010udm.2_Silent_p.R29R	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	29					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AAGAGGCGCCGGGAGCTGAGG	0.582000														30			17		5.26018e-13	5.36458e-13	1	1	0
SPANXN2	494119	broad.mit.edu	37	X	142795380	142795380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:142795380C>T	uc004fbz.3	-	1	1052	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	100										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTCTTCGTCCTCCTGT	0.532000														62			149		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	Missense_Mutation	SNP	T	C	C	rs144184696	by1000genomes	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:50466990T>C	uc001vdk.2	+	0	2446	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTCTGTCCACTGAGGGGTTTT	0.517000														86			4		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45768171	45768171	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:45768171C>T	uc003bgc.3	-	13	2111	c.2059_splice	c.e13-1	p.G687_splice	SMC1B_uc003bgd.3_Splice_Site_p.G687_splice|SMC1B_uc003bge.1_Splice_Site_p.G470_splice	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	687					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTTCATTAAACCCTAAAAGGA	0.318000														14			23		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039462	55039462	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55039462C>T	uc001sgj.3	-	2	189	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DCD_uc009znt.3_Missense_Mutation_p.E43K|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.E43K(2)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCTGCATTTTCCTTTTGAGCT	0.517000														52			25		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121431498	121431498	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:121431498G>A	uc001tzg.3	+	2	725	c.702G>A	c.(700-702)gaG>gaA	p.E234E	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.E234E|HNF1A_uc001tzf.3_Silent_p.E234E|HNF1A_uc010szn.2_Silent_p.E234E|HNF1A_uc021rfa.1_Silent_p.E234E|HNF1A_uc021rfb.1_Silent_p.E106E|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	234					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V233del(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCTAGTGGAGGAGTGCAATA	0.587000									Hepatic Adenoma, Familial Clustering of					34			17		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399219	67399219	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:67399219C>T	uc001omp.3	-	7	1103	c.1015G>A	c.(1015-1017)Ggg>Agg	p.G339R	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	339					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTTGGGATCCCTAGGTGGCTC	0.657000														1			3		0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	58996366	58996366	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:58996366G>A	uc001cyy.3	-	5	1135	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Silent_p.F349F	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	349					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCATACCTAGGAAATCCAACA	0.368000														31			17		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19285536	19285536	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:19285536C>T	uc002gvn.3	+	4	2306	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	MAPK7_uc002gvo.3_Silent_p.P501P|MAPK7_uc002gvq.3_Silent_p.P640P|MAPK7_uc002gvp.3_Silent_p.P640P|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	640	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCCCTGCACCCCACCCCACTG	0.711000														33			23		0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990243	990243	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:990243C>T	uc002lqm.1	+	3	502	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	159										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGACCCCTCCAGGATTCCG	0.731000														24			5		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324459	152324459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152324459G>A	uc001ezw.4	-	2	5876	c.5803C>T	c.(5803-5805)Cct>Tct	p.P1935S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1935							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)			CCATGACTAGGGTGGCCATGT	0.527000														262			102		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604206	189604206	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:189604206C>T	uc003fry.2	+	10	1462	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	TP63_uc003frz.2_Missense_Mutation_p.S458L|TP63_uc010hzc.1_Missense_Mutation_p.S458L|TP63_uc003fsc.2_Missense_Mutation_p.S364L|TP63_uc003fsd.2_Missense_Mutation_p.S364L|TP63_uc021xir.1_Missense_Mutation_p.S364L|TP63_uc010hzd.1_Missense_Mutation_p.S279L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	458					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCCATCTTCATATGGTAAC	0.473000										HNSCC(45;0.13)				44			28		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123987437	123987437	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:123987437G>T	uc001lfv.3	+	13	8170	c.7810G>T	c.(7810-7812)Gag>Tag	p.E2604*	TACC2_uc001lfw.3_Nonsense_Mutation_p.E750*|TACC2_uc009xzx.3_Nonsense_Mutation_p.E2559*|TACC2_uc010qtv.2_Nonsense_Mutation_p.E2608*|TACC2_uc001lfx.3_Nonsense_Mutation_p.E308*|TACC2_uc001lfy.3_Nonsense_Mutation_p.E304*|TACC2_uc001lfz.3_Nonsense_Mutation_p.E682*|TACC2_uc001lga.3_Nonsense_Mutation_p.E682*|TACC2_uc009xzy.3_Nonsense_Mutation_p.E694*|TACC2_uc001lgb.3_Nonsense_Mutation_p.E639*	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2604						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCTAACCAAGAGTCACACTT	0.537000														112			7		0.000442599	0.000443928	1	1	0
ZBTB4	57659	broad.mit.edu	37	17	7365457	7365457	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:7365457G>A	uc002ghc.4	-	3	3094	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	ZBTB4_uc002ghd.4_Silent_p.L948L	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L948F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGACCATGTTGAGAGCAACCG	0.602000														270			129		0	0	1	0	0
AX746964	0	broad.mit.edu	37	5	140242736	140242736	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140242736C>T	uc003lhy.1	-	0	489	c.240G>A	c.(238-240)tgG>tgA	p.W80*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		TGGTGAAGGACCACTGCGAGC	0.687000														4			27		0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017245	109017245	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:109017245C>T	uc010sxe.2	-	1	1064	c.887G>A	c.(886-888)aGa>aAa	p.R296K	SELPLG_uc001tni.3_Missense_Mutation_p.R280K|SELPLG_uc021rdm.1_Missense_Mutation_p.R270K|SELPLG_uc001tnh.3_Missense_Mutation_p.R270K	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	280					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GAACAGACCTCTTTTGGTAGT	0.572000														28			16		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:96180332G>A	uc001yfc.4	-	0	202	c.72C>T	c.(70-72)ttC>ttT	p.F24F	BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Silent_p.F24F	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	24					multicellular organismal development	endoplasmic reticulum|microsome		p.K23N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL									112			47		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76446418	76446418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:76446418G>A	uc010dhp.2	-	67	11083	c.10958C>T	c.(10957-10959)cCg>cTg	p.P3653L	DNAH17_uc002jvq.3_5'Flank|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCCGCAGCCGGGCGGTAGTT	0.522000														24			12		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80631503	80631503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:80631503G>A	uc003pja.4	-	3	699	c.380C>T	c.(379-381)gCt>gTt	p.A127V	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	127					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CCACCACAGAGCAGCAGCTAT	0.338000														23			20		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	56997930	56997930	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:56997930C>T	uc003pdm.1	+	5	739	c.515C>T	c.(514-516)cCt>cTt	p.P172L	ZNF451_uc003pdl.3_Missense_Mutation_p.P172L|ZNF451_uc003pdn.1_Missense_Mutation_p.P172L|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.P172L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTTTATGTCCTATAATGCAC	0.403000														71			52		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359173	145359173	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:145359173C>T	uc021oul.1	+	71	9148	c.9113C>T	c.(9112-9114)gCt>gTt	p.A3038V	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3038								p.L3037M(7)		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)		GTTGGCTTGGCTGTTGACATG	0.463000														647			17		0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957897	61957897	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:61957897G>A	uc002jcl.1	-	3	753	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron|GH2_uc002jcm.1_Intron	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGAAGGAAGAGAAGGAGAGGC	0.537000														51			36		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899812	129899812	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:129899812C>T	uc001lke.3	-	13	9610	c.9415G>A	c.(9415-9417)Gga>Aga	p.G3139R	MKI67_uc001lkf.3_Missense_Mutation_p.G2779R	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	3139					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCGGGCTCCATCATCTGGA	0.453000														81			43		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161962	41161962	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:41161962C>T	uc003jmk.2	-	10	1502	c.1292_splice	c.e10-1	p.G431_splice	C6_uc003jml.1_Splice_Site_p.G431_splice	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	431	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATAAATGAACCTGCAAGGTGT	0.393000														35			59		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360949	64360949	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:64360949C>T	uc001oam.1	+	2	1326	c.579C>T	c.(577-579)gcC>gcT	p.A193A	SLC22A12_uc009ypr.1_Silent_p.A193A|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.3_Silent_p.A11A	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	193					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.F192F(1)|p.A193D(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGCCTTCGCCCCTGCCTTCC	0.622000														58			35		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65629508	65629508	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:65629508G>A	uc001ofv.4	+	3	795	c.442G>A	c.(442-444)Gag>Aag	p.E148K	CFL1_uc001oft.3_5'Flank|MUS81_uc001ofx.4_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	148	Interaction with BLM.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCTCTACCGGGAGCACCTGGT	0.652000								Homologous recombination						6			6		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183350	13183350	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:13183350G>A	uc010obg.2	-	1	766	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	175						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TCTCCTTTCAGCTTTCCAGAC	0.463000														609			48		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326117	31326117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:31326117C>T	uc010dmg.1	+	11	6360	c.6305C>T	c.(6304-6306)tCc>tTc	p.S2102F	ASXL3_uc002kxq.2_Missense_Mutation_p.S1809F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAACAAGTTTCCTATGACCAG	0.413000														50			23		0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563194	51563195	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:51563194_51563195GG>AA	uc002pvn.3	-	2	438_439	c.395_396CC>TT	c.(394-396)tcc>tTT	p.S132F	KLK13_uc002pvl.3_Intron|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Intron|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Intron|KLK13_uc002pvq.3_Intron|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.S132F	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	132	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GCTGGACCGGGGACTGCAGCTC	0.609000														80			34		0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11736152	11736152	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:11736152G>A	uc001asp.3	-	5	790	c.378C>T	c.(376-378)ttC>ttT	p.F126F	MAD2L2_uc009vnc.3_Silent_p.F126F|MAD2L2_uc001asq.4_Silent_p.F126F	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 2 (yeast) (MAD2L2), transcript variant 2, mRNA.	126	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				DNA damage response, signal transduction resulting in transcription|cell division|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCAGGATGAAGGCCCGGA	0.607000								DNA polymerases (catalytic subunits)						46			20		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395399	29395399	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:29395399C>T	uc003nmg.3	-	0	111	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AGTTTCGTTTCCTGTGGAGAC	0.398000														44			37		0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6007048	6007048	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:6007048G>A	uc002meb.3	-	11	1646	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	RFX2_uc002mec.3_Silent_p.I434I|AX748210_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCACGTCGGGGATGAGAATCT	0.612000														40			24		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994505	140994505	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:140994505C>T	uc004fbt.3	+	3	1639	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P98S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	439							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGTTTTCCCCAGTCTCC	0.458000										HNSCC(15;0.026)				16			47		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108035866	108035866	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:108035866G>A	uc001tmk.1	+	14	3362	c.2841_splice	c.e14-1	p.R947_splice	BTBD11_uc001tmj.3_Splice_Site_p.R947_splice|BTBD11_uc001tml.1_Splice_Site_p.R484_splice|BTBD11_uc001tmm.1_Splice_Site_p.R26_splice	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	947	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTTGTTCAGGTTCAAAGCA	0.438000														73			23		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289403	160289403	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:160289403C>T	uc002uao.3	-	8	2170	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	BAZ2B_uc002uap.3_Missense_Mutation_p.E587K|BAZ2B_uc002uas.1_Missense_Mutation_p.E526K|BAZ2B_uc002uaq.1_Missense_Mutation_p.E517K|BAZ2B_uc002uar.1_Missense_Mutation_p.E162K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	589					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						CTGAATTGTTCCACTAAAGAT	0.398000														67			50		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937246	43937246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:43937246C>T	uc010yny.2	+	11	2167	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	PLEKHH2_uc002rte.3_Missense_Mutation_p.S695F|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S694F	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	695	Poly-Ser.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCATCTTCCAGTGATAAT	0.393000														54			20		0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20832950	20832950	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:20832950C>T	uc002kuc.2	+	7	1473	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	TMEM241_uc010xaq.2_Intron|CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Silent_p.P226P	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	491	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTGAAGCCCTCGGATCTCA	0.463000														38			14		0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442600	22442600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:22442600G>A	uc003xby.3	+	4	1175	c.386G>A	c.(385-387)aGc>aAc	p.S129N	PDLIM2_uc003xbx.2_Missense_Mutation_p.S379N|PDLIM2_uc003xca.3_Missense_Mutation_p.S129N|PDLIM2_uc003xcc.2_Missense_Mutation_p.S129N	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	129	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		ACCTCCCTCAGCCCGAGGGCC	0.617000														149			63		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919443	13919443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:13919443G>A	uc003jfd.2	-	6	859	c.817C>T	c.(817-819)Cag>Tag	p.Q273*	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	273	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)					TTCAGCAGCTGATTGTTTTCA	0.463000									Kartagener syndrome					33			224		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217107	150217107	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:150217107G>A	uc003whk.3	+	1	175	c.45G>A	c.(43-45)ggG>ggA	p.G15G	GIMAP7_uc022apu.1_Silent_p.G15G	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	15							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGTAGGGAAAACTGGAA	0.498000														67			62		0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624874	6624875	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:6624874_6624875AC>TT	uc003sqi.3	+	7	1082_1083	c.724_725AC>TT	c.(724-726)acg>TTg	p.T242L	ZDHHC4_uc003sql.3_Missense_Mutation_p.T242L|ZDHHC4_uc003sqj.3_Missense_Mutation_p.T242L|ZDHHC4_uc003sqh.3_Missense_Mutation_p.T242L	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	242						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGTTATGGACACGGTCTTTCTT	0.406000														49			31		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142627507	142627507	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:142627507C>T	uc003wby.1	-	1	427	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TRPV5_uc003wbz.3_Missense_Mutation_p.E55K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	55					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGTCATTTTCCTTGGATGCT	0.512000														126			78		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208523	138208523	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:138208523G>A	uc002tva.1	+	13	2975	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGAGAATTCGATCCAAATGG	0.413000														15			9		0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131671623	131671623	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:131671623C>T	uc003kwq.3	+	7	1539	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	458					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGGTCAGGAACATGGCGGTGG	0.527000														363			23		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51689707	51689707	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:51689707C>T	uc002aba.3	+	5	898	c.729C>T	c.(727-729)ccC>ccT	p.P243P	GLDN_uc002abb.3_Silent_p.P119P	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	243	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CACCTGGGCCCCCAGGCCCTC	0.642000														12			11		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874018	144874018	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:144874018G>A	uc021ouh.1	-	30	5241	c.4939C>T	c.(4939-4941)Cat>Tat	p.H1647Y	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.H1647Y|PDE4DIP_uc001elx.4_Missense_Mutation_p.H1603Y|PDE4DIP_uc001elv.4_Missense_Mutation_p.H654Y	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1647					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)		TGACTCGAATGATGGATGGAA	0.458000			T	PDGFRB	MPD									485			88		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54439916	54439916	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:54439916T>G	uc003hag.4	-	1	510	c.254A>C	c.(253-255)cAg>cCg	p.Q85P	PDGFRA_uc003haa.3_Intron|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	85						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTGCAGTGCTGCAGAACCAG	0.572000														26			3		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106082652	106082652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:106082652C>T	uc004emo.3	+	7	1483	c.1318C>T	c.(1318-1320)Cac>Tac	p.H440Y	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emn.3_Missense_Mutation_p.H440Y	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	440						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACAGTATTTCACCCTCAGAA	0.348000														9			34		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308966	248308966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:248308966G>A	uc010pze.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E173K(2)|p.R172W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGGGTCTCGGGAAATAGCCCA	0.428000														401			109		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760536	115760536	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:115760536C>T	uc011lwy.2	-	4	1243	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TTCTCAGATTCCATCAGTACT	0.358000														36			39		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888832	38888832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:38888832G>A	uc021wvy.1	-	25	4928	c.4729C>T	c.(4729-4731)Cct>Tct	p.P1577S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1577					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTATGCCAGGGAGGTGGCAG	0.438000														51			30		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762435	43762435	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:43762435G>A	uc002owd.4	-	4	1261	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	PSG9_uc002owe.4_Missense_Mutation_p.H295Y|PSG9_uc010xwm.2_Missense_Mutation_p.H295Y|PSG9_uc002owf.4_Missense_Mutation_p.H202Y|PSG9_uc002owg.2_Missense_Mutation_p.H295Y	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	388	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGCCCGCTATGATTTCTAGTA	0.443000														142			109		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905194	37905194	+	Silent	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:37905194T>C	uc002ogj.3	-	8	1370	c.438A>G	c.(436-438)gtA>gtG	p.V146V	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Silent_p.V122V	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGGAAATACATTTGCAA	0.323000														35			21		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259171	150259171	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:150259171C>T	uc001euj.3	+	4	1412	c.963C>T	c.(961-963)atC>atT	p.I321I	C1orf51_uc001euh.3_Silent_p.I321I|C1orf51_uc001eui.3_Silent_p.I233I	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	321										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCTGTCATCCCTGGTGAGC	0.552000														178			64		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786587	67786587	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:67786587C>T	uc003xwz.4	+	2	292	c.121C>T	c.(121-123)Cga>Tga	p.R41*	MCMDC2_uc003xwv.3_Nonsense_Mutation_p.R41*|MCMDC2_uc011lev.2_Nonsense_Mutation_p.R41*|MCMDC2_uc011lew.2_Intron|MCMDC2_uc011lex.2_Intron|MCMDC2_uc003xwy.4_Nonsense_Mutation_p.R41*	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	41					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TGCTGTCTATCGATTCAAAAT	0.303000														22			13		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766256	57766256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:57766256C>T	uc002yan.3	+	0	182	c.182C>T	c.(181-183)cCa>cTa	p.P61L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	61	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGCCCATCCCACTGTACCAC	0.701000														29			7		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116485450	116485450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:116485450G>A	uc002tle.3	+	7	668	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	DPP10_uc002tla.2_Missense_Mutation_p.R212Q|DPP10_uc002tlb.2_Missense_Mutation_p.R162Q|DPP10_uc002tlc.2_Missense_Mutation_p.R208Q|DPP10_uc002tlf.2_Missense_Mutation_p.R205Q	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	212					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.F216S(1)|p.F216>?(1)|p.F216L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGTTCATTGCGACTGACATCT	0.308000														14			13		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71906294	71906294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:71906294C>T	uc010fen.3	+	52	6133	c.5992C>T	c.(5992-5994)Ctt>Ttt	p.L1998F	DYSF_uc010fei.3_Missense_Mutation_p.L1976F|DYSF_uc010feh.3_Missense_Mutation_p.L1966F|DYSF_uc002sig.4_Missense_Mutation_p.L1945F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.L1990F|DYSF_uc010fee.3_Missense_Mutation_p.L1980F|DYSF_uc010fef.3_Missense_Mutation_p.L1997F|DYSF_uc002sie.3_Missense_Mutation_p.L1959F|DYSF_uc010feo.3_Missense_Mutation_p.L1991F|DYSF_uc010fej.3_Missense_Mutation_p.L1967F|DYSF_uc010fel.3_Missense_Mutation_p.L1946F|DYSF_uc010fem.3_Missense_Mutation_p.L1981F|DYSF_uc002sif.3_Missense_Mutation_p.L1960F|DYSF_uc010fek.3_Missense_Mutation_p.L1977F|DYSF_uc010yqy.2_Missense_Mutation_p.L840F|DYSF_uc010yqz.2_Missense_Mutation_p.L720F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1959						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTGTGTCCCTTTTTGAGCA	0.537000														36			18		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117827034	117827034	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:117827034G>A	uc004bjj.4	-	10	3791	c.3379C>T	c.(3379-3381)Cgg>Tgg	p.R1127W	TNC_uc010mvf.3_Missense_Mutation_p.R1127W|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1127	Fibronectin type-III 6.				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						TCCACAGCCCGAAGGCTGCCA	0.587000														77			62		0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91968462	91968462	+	RNA	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:91968462G>A	uc010fho.1	+	1		c.793G>A								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		AGTGCCTGGGGAGATCCGAGG	0.667000														12			3		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065883	35065883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:35065883C>T	uc003jjm.3	-	9	1736	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.D292N|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	393					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CACTGGGGGTCCCAGGTGTGG	0.507000														175			89		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99796914	99796914	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:99796914C>G	uc003utx.1	+	14	1652	c.1497C>G	c.(1495-1497)gaC>gaG	p.D499E	STAG3_uc010lgs.1_Missense_Mutation_p.D287E|STAG3_uc011kjk.1_Missense_Mutation_p.D441E|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	499					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTTAGTAGACAGTCTGTGGG	0.527000														163			38		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57424006	57424006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:57424006G>A	uc001smw.4	-	23	2819	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L	MYO1A_uc010sqz.2_Missense_Mutation_p.S698L|MYO1A_uc009zpd.3_Missense_Mutation_p.S860L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	860					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTGGGGATATGAAGCCTTCTT	0.552000														52			28		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15699595	15699595	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:15699595G>A	uc001rcv.2	+	12	2727	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	PTPRO_uc001rcw.2_Missense_Mutation_p.E753K|PTPRO_uc001rcx.2_5'UTR|PTPRO_uc001rcy.2_5'UTR|PTPRO_uc001rcz.2_5'UTR|PTPRO_uc001rda.2_5'UTR	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	753	Fibronectin type-III 8.			E -> K (in Ref. 1; CAA88425).		integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGATTTCTTTGAAGTTTTCTG	0.423000														31			19		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57209928	57209928	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:57209928C>G	uc001cym.4	-	9	1805	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	467										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCCAAAACCTCCAGATGCCCA	0.453000														18			9		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676217	62676217	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:62676217G>A	uc021ooc.1	+	4	2206	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	L1TD1_uc001dae.4_Missense_Mutation_p.E591K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	591										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GAAAACAGAAGAAAAGAAACA	0.358000														19			6		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267726	71267726	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:71267726G>A	uc001xmm.3	-	1	478	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_uc001xml.3_Missense_Mutation_p.R160C	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	160	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.R160H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGAAAGCACGATAGACCTTC	0.488000														74			57		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21115411	21115411	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:21115411C>T	uc001iqi.3	-	17	2231	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	612					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCACTCGTTCGATCTCTGGG	0.323000														88			33		0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113645372	113645372	+	Silent	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:113645372A>T	uc001tuu.3	-	1	772	c.600T>A	c.(598-600)acT>acA	p.T200T		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	Homo sapiens IQ motif containing D (IQCD), mRNA.	200										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCATGGGACTAGTGAGTAGTT	0.438000														57			25		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101031087	101031087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:101031087G>A	uc002bwa.3	-	5	827	c.256C>T	c.(256-258)Cga>Tga	p.R86*	CERS3_uc002bvz.3_Nonsense_Mutation_p.R75*|CERS3_uc002bwb.3_Nonsense_Mutation_p.R75*	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	75						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTAACCTTTCGAACTGTCTCT	0.308000														96			29		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560781	44560781	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:44560781C>T	uc002lcr.1	-	0	1208	c.855G>A	c.(853-855)ggG>ggA	p.G285G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	285					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGCTTGCCCCCCTTCCTTGT	0.607000														208			66		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100634	89100634	+	RNA	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:89100634A>T	uc010fhg.3	+	12		c.1074A>T			ANKRD36BP2_uc010fhh.3_Non-coding_Transcript|ANKRD36BP2_uc010fhi.1_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		TGATGCTCGCAACAAAGCTGA	0.383000														73			50		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5988911	5988911	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:5988911G>A	uc010qzu.2	-	0	814	c.814C>T	c.(814-816)Cct>Tct	p.P272S		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	272						integral to membrane|plasma membrane	olfactory receptor activity										ACATCCGGAGGAATTCTCTTC	0.517000														29			19		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915194	39915194	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:39915194C>T	uc010xuz.2	+	18	3746	c.3421C>T	c.(3421-3423)Cca>Tca	p.P1141S	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P1082S|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.P919S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1141	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACTCAGGTTCCAGCTACCAC	0.597000														32			19		0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693178	30693178	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:30693178C>T	uc003tbn.3	-	11	1379	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Silent_p.Q377Q|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Silent_p.Q214Q|CRHR2_uc003tbo.3_Silent_p.Q364Q|CRHR2_uc003tbp.3_Silent_p.Q405Q	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	378					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGATGGTCCTGCCAGCGGT	0.642000														194			126		0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26712202	26712202	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:26712202C>T	uc010crl.1	+	6	1599	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	SARM1_uc010waj.1_Non-coding_Transcript|SARM1_uc002hbe.1_Missense_Mutation_p.S57F	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	Homo sapiens sterile alpha and TIR motif containing 1 (SARM1), mRNA.	513	SAM 2.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGGACCGCTCCCTGCTGCAC	0.706000														6			4		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832690	131832690	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:131832690G>A	uc003vra.4	-	26	5062	c.4833C>T	c.(4831-4833)tcC>tcT	p.S1611S	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1611						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						TGGAGACGGTGGAGTTGTTCA	0.537000														109			108		0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47646800	47646800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:47646800G>A	uc002pgc.3	+	1	256	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	SAE1_uc002pgd.3_Missense_Mutation_p.E50K|SAE1_uc010ekx.3_Missense_Mutation_p.E50K|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_5'UTR|SAE1_uc002pge.3_5'UTR	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	50					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		ACTTGGGGCTGAAATTGCCAA	0.517000														68			41		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829989	61829989	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:61829989C>T	uc001jky.3	-	36	10988	c.10650G>A	c.(10648-10650)ggG>ggA	p.G3550G	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3550					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTCATCATCCCCTCGGTTAT	0.428000														35			13		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39409050	39409050	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:39409050G>A	uc003gua.3	+	0	578	c.481G>A	c.(481-483)Gat>Aat	p.D161N	KLB_uc011byj.2_Missense_Mutation_p.D161N	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	161	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCTTTTCCCCGATGGAATAGT	0.378000														39			31		0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49302952	49302952	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:49302952G>A	uc010emh.2	-	5	731	c.675C>T	c.(673-675)gtC>gtT	p.V225V	BCAT2_uc002pkq.4_Silent_p.V185V|BCAT2_uc002pks.3_Silent_p.V185V|BCAT2_uc002pkr.3_Silent_p.V225V|BCAT2_uc002pkt.3_Silent_p.V133V|BCAT2_uc010emi.2_Silent_p.V133V|BCAT2_uc002pku.1_Silent_p.V185V	NM_001190	NP_001181	O15382	BCAT2_HUMAN	Homo sapiens branched chain amino-acid transaminase 2, mitochondrial (BCAT2), nuclear gene encoding mitochondrial protein, transcript variant a, mRNA.	225						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	p.G224W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGTAGTTGCCGACCCCGCCCA	0.652000														8			9		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86817483	86817483	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:86817483C>T	uc003uih.3	+	12	1603	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	DMTF1_uc003uii.3_Missense_Mutation_p.S160F|DMTF1_uc003uij.3_Missense_Mutation_p.S160F|DMTF1_uc011khb.2_Missense_Mutation_p.S338F|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.S426F|DMTF1_uc003uin.3_Missense_Mutation_p.S160F	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	426	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AAATCAGGATCTGGAGTTCCA	0.408000														107			98		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50123853	50123853	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:50123853G>A	uc003jon.4	+	20	2235	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	PARP8_uc011cpz.2_Missense_Mutation_p.A577T|PARP8_uc003joo.3_Missense_Mutation_p.A685T|PARP8_uc003jop.3_Missense_Mutation_p.A643T	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	685	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAATTTTAGAGCTGCTAAAAA	0.398000														59			76		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976018	2976018	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:2976018G>A	uc022aqr.1	-	41	6723	c.6333C>T	c.(6331-6333)ttC>ttT	p.F2111F	CSMD1_uc011kwj.2_Silent_p.F1504F|CSMD1_uc010lrg.3_Silent_p.F180F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2112	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATAACACTCGAAAGATACTG	0.448000														156			49		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160006	160006	+	RNA	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrGL000192.1:160006C>T	uc010yih.1	-	11		c.2416G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				ttcttctcttcgtggtcctcc	0.637000														3			8		0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146463845	146463845	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:146463845G>A	uc003ikc.3	+	3	1186	c.770G>A	c.(769-771)aGa>aAa	p.R257K	SMAD1_uc003ikd.3_Missense_Mutation_p.R257K|SMAD1_uc010iov.3_Missense_Mutation_p.R257K|SMAD1_uc011cic.2_Intron	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	257					BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.R257K(2)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GAAATCAACAGAGGAGGTAAA	0.453000														33			48		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150727594	150727594	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:150727594G>A	uc001evn.3	-	3	543	c.282C>T	c.(280-282)tcC>tcT	p.S94S	CTSS_uc010pcj.2_Intron	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	94					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GAACTCTCAGGGAACTCATCA	0.413000														230			69		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098691	133098691	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:133098691C>T	uc003epi.3	+	3	406	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	TMEM108_uc003eph.3_Missense_Mutation_p.P46S|TMEM108_uc003epj.1_Missense_Mutation_p.P46S|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	46						integral to membrane		p.P46P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCAGGCACTCCCCCGGGAAC	0.587000														147			103		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24356778	24356778	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:24356778G>A	uc003xeb.3	+	16	1985	c.1872G>A	c.(1870-1872)atG>atA	p.M624I	ADAM7_uc003xec.3_Missense_Mutation_p.M396I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	624	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTCTAAACATGGAAAAGGTCT	0.323000														84			18		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380685	114380685	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:114380685C>T	uc001eds.3	-	12	1467	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	PTPN22_uc021orx.1_Missense_Mutation_p.R446Q|PTPN22_uc009wgq.3_Missense_Mutation_p.R391Q|PTPN22_uc021ory.1_Missense_Mutation_p.R422Q|PTPN22_uc010owo.2_Missense_Mutation_p.R202Q|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R446Q|PTPN22_uc009wgs.2_Missense_Mutation_p.R319Q|PTPN22_uc001edu.2_Missense_Mutation_p.R446Q	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	446					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		TGATTTGGTCCGTGTTATTGG	0.378000														45			23		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958182	40958182	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:40958182G>A	uc003jmh.3	+	10	1422	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	436	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGCCTCTGTGAAAAAACTAT	0.408000														19			26		0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72576216	72576216	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:72576216G>A	uc002jkz.2	-	3	539	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	170						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCCAGGAGGAACAGGAACA	0.582000														14			5		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187752	57187752	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:57187752C>T	uc010kzo.3	-	4	1641	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTC	0.433000														210			116		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741165	140741165	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140741165C>T	uc003ljs.2	+	0	1463	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.S488F|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	490	Cadherin 5.				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)			GGCCAAGTTTCCTACTCCATC	0.592000														7			51		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586482	121586482	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:121586482C>T	uc001leo.3	+	19	2805	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F	INPP5F_uc001lep.3_Silent_p.F253F	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	863							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGATGAATTCCTTACAAATT	0.413000														55			29		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503628	40503628	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:40503628T>C	uc002lav.3	-	3	508	c.335A>G	c.(334-336)aAg>aGg	p.K112R	RIT2_uc010dnf.3_Missense_Mutation_p.K112R	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	112					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTTTAAACTTGGCAGCCTC	0.517000														314			91		0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89389521	89389521	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:89389521T>A	uc003hrt.3	+	7	1235	c.1082T>A	c.(1081-1083)tTa>tAa	p.L361*	HERC5_uc011cdm.2_5'UTR	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	361					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAAAGGAGTTAATAATGATT	0.343000														27			42		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154349	22154349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:22154349G>A	uc021urr.1	-	3	3636	c.3487C>T	c.(3487-3489)Cat>Tat	p.H1163Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				TCTACAGTATGAATTTTCTTA	0.358000														20			15		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983817	1983817	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:1983817C>T	uc021qsx.1	-	17	2062	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	611						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGTTTCCCTATTGATC	0.473000														26			13		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594778	55594778	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55594778C>T	uc001nhy.1	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.502000										HNSCC(27;0.073)				183			96		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106617294	106617294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:106617294C>T	uc009yxn.1	-	6	2302	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	GUCY1A2_uc001pjg.1_Intron|GUCY1A2_uc010rvo.1_Intron	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	612	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTACCCAAATCCGTTTCACTT	0.423000														5			8		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	16965205	16965205	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:16965205C>A	uc004cxv.1	+	0	392	c.221C>A	c.(220-222)cCc>cAc	p.P74H	REPS2_uc004cxw.1_Missense_Mutation_p.P74H	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	74	Ala-rich.|EH 1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCCGCCGGCCCCGTGGCTGAC	0.781000														2			2		1	1	1	1	0
C17orf70	80233	broad.mit.edu	37	17	79517323	79517323	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:79517323C>T	uc002kaq.3	-	2	1270	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.L248L	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	399					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGCAGATGTTCAGGCTGGCTG	0.632000														102			72		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079811	29079811	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:29079811C>T	uc011dll.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ACCTGTTCATCATCATCCTGT	0.413000														175			144		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983435	28983435	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:28983435G>A	uc002kwr.2	+	10	1609	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	DSG4_uc002kwq.2_Missense_Mutation_p.D492N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	492	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATATCAATGATTATTGTCC	0.393000														17			12		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11645550	11645550	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:11645550G>A	uc002gne.3	+	29	6099	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	DNAH9_uc010coo.3_Missense_Mutation_p.E1305K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2011	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGGTGGCAGAAGGATTCAT	0.458000														82			48		0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123631465	123631465	+	Silent	SNP	G	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:123631465G>C	uc004bks.1	-	5	862	c.609C>G	c.(607-609)ccC>ccG	p.P203P	PHF19_uc011lyf.1_5'Flank|PHF19_uc004bkr.2_5'Flank	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTACTCTCCGGGCCCGCCGC	0.682000														11			3		0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505492	57505492	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:57505492T>G	uc001nlc.2	+	2	454	c.358T>G	c.(358-360)Tgc>Ggc	p.C120G	CTNND1_uc001nlf.2_Intron|TMX2_uc001nld.2_Missense_Mutation_p.C26G|TMX2_uc001nle.2_Intron|TMX2_uc021qji.1_Intron	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	120	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CATCACACTCTGCATAGGTGA	0.403000														57			34		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518184	8518184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:8518184G>A	uc003zkk.3	-	20	1950	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	PTPRD_uc003zkp.3_Missense_Mutation_p.P403S|PTPRD_uc003zkq.3_Missense_Mutation_p.P403S|PTPRD_uc003zkr.3_Missense_Mutation_p.P397S|PTPRD_uc003zks.3_Missense_Mutation_p.P393S|PTPRD_uc022bdj.1_Missense_Mutation_p.P400S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	403	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G402G(1)|p.G402W(1)		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)		TCGCTGGGAGGCCCCCGCCCA	0.537000										TSP Lung(15;0.13)				98			58		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672472	198672472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:198672472G>A	uc001gur.1	+	6	803	c.623G>A	c.(622-624)gGa>gAa	p.G208E	PTPRC_uc001gut.1_Missense_Mutation_p.G47E|PTPRC_uc009wze.1_Missense_Mutation_p.G96E|PTPRC_uc009wzf.1_Missense_Mutation_p.G96E|PTPRC_uc021pgy.1_Missense_Mutation_p.G162E|PTPRC_uc010ppg.1_Missense_Mutation_p.G144E|PTPRC_uc001guu.1_Missense_Mutation_p.G251E|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	208					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						AGCCCTTCTGGAAGCGCTGTC	0.438000														164			63		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117896389	117896389	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:117896389A>T	uc003pxu.3	-	3	855	c.601T>A	c.(601-603)Tat>Aat	p.Y201N	ROS1_uc003pxq.1_5'Flank|ROS1_uc003pxv.3_Missense_Mutation_p.Y193N	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		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)		CTCGCCCCATATACTTCAGCC	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									65			20		0	0	1	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982837	42982837	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:42982837C>T	uc003cmm.4	+	2	316	c.156C>T	c.(154-156)gcC>gcT	p.A52A	KRBOX1_uc003cmn.4_Silent_p.A51A	NM_001205272	NP_001192201	C9JBD0	KRBX1_HUMAN	Homo sapiens KRAB box domain containing 1 (KRBOX1), mRNA.	52	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			lung(2)	2						AGGCTGTGGCCTTTGTAGGTA	0.517000														11			6		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801485	185801485	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:185801485C>T	uc002uph.3	+	3	1956	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	454						intracellular	zinc ion binding	p.I453M(1)		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						CATCAATTTCCTATAGCTGTA	0.343000														36			36		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														185			50		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4943309	4943309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:4943309C>T	uc002cyd.1	-	13	1645	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	519					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCTGCCGGTCCAGGTCGCTG	0.662000														20			10		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160053	132160053	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:132160053G>A	uc011mvf.2	-	0	2248	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	USP26_uc010nrm.1_Silent_p.F732F	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	732					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F732F(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACACTTTTTGGAATCTTTCTG	0.398000														11			47		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083427	171083427	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:171083427G>A	uc001ghi.3	+	6	1219	c.1108G>A	c.(1108-1110)Ggc>Agc	p.G370S	FMO3_uc001ghh.3_Missense_Mutation_p.G370S|FMO3_uc010pmb.2_Missense_Mutation_p.G350S|FMO3_uc010pmc.2_Missense_Mutation_p.G307S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	370					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGTGATTGGCTTTGTCCA	0.443000														74			26		0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125280117	125280117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:125280117C>T	uc001qbu.3	+	7	928	c.614C>T	c.(613-615)tCc>tTc	p.S205F	PKNOX2_uc010saz.2_Missense_Mutation_p.S176F|PKNOX2_uc010sba.2_Missense_Mutation_p.S176F|PKNOX2_uc010sbb.2_Missense_Mutation_p.S141F|PKNOX2_uc001qbv.3_5'Flank	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	205						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TCCCCCAATTCCATGTCCGGA	0.572000														64			129		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737548	13737548	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:13737548C>T	uc003jfd.2	-	65	11310	c.11268G>A	c.(11266-11268)agG>agA	p.R3756R	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3756	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3756M(1)		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)					GTTCCTTCATCCTTCTTTTGT	0.373000									Kartagener syndrome					15			60		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89820092	89820092	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:89820092C>T	uc010bnp.1	+	12	1353	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	FANCI_uc002bnm.1_Silent_p.L421L|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Silent_p.L242L|FANCI_uc002bnq.1_5'Flank	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	421					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATGTAAGCTCGGAGCTAATA	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					151			39		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71762204	71762204	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:71762204C>T	uc010fen.3	+	14	1575	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	DYSF_uc010fei.3_Silent_p.I477I|DYSF_uc010feh.3_Silent_p.I446I|DYSF_uc002sig.4_Silent_p.I446I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I477I|DYSF_uc010fee.3_Silent_p.I446I|DYSF_uc010fef.3_Silent_p.I477I|DYSF_uc002sie.3_Silent_p.I446I|DYSF_uc010feo.3_Silent_p.I478I|DYSF_uc010fej.3_Silent_p.I447I|DYSF_uc010fel.3_Silent_p.I447I|DYSF_uc010fem.3_Silent_p.I447I|DYSF_uc002sif.3_Silent_p.I447I|DYSF_uc010fek.3_Silent_p.I478I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	446	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCAGAACATCACACTGCCTG	0.612000														31			33		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32754816	32754816	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:32754816A>T	uc010ezu.3	+	59	12153	c.12019A>T	c.(12019-12021)Aaa>Taa	p.K4007*	MIR558_uc021vfr.1_5'Flank	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4007					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTGACTGTTAAATTGGGATC	0.393000														23			29		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042770	193042770	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:193042770C>T	uc011bsq.2	-	13	1557	c.1557G>A	c.(1555-1557)caG>caA	p.Q519Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	519					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATGGCACAGCCTGGCCTGAGG	0.502000														55			26		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209968716	209968716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:209968716C>T	uc001hhq.2	-	4	731	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	IRF6_uc010psm.2_Missense_Mutation_p.E48K	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	143					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCATCTTCTTCATCCACATCA	0.532000										HNSCC(57;0.16)				65			78		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970033	123970033	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:123970033C>T	uc001lfv.3	+	8	6453	c.6093C>T	c.(6091-6093)gcC>gcT	p.A2031A	TACC2_uc001lfw.3_Silent_p.A177A|TACC2_uc009xzx.3_Silent_p.A1986A|TACC2_uc010qtv.2_Silent_p.A2035A|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Silent_p.A109A|TACC2_uc001lga.3_Silent_p.A109A|TACC2_uc009xzy.3_Silent_p.A109A|TACC2_uc001lgb.3_Silent_p.A66A|TACC2_uc010qtw.1_Silent_p.A126A	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2031						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCCGATAGCCAGCAGTGGGA	0.557000														38			12		0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30693789	30693790	+	Missense_Mutation	DNP	TC	AG	AG			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:30693789_30693790TC>AG	uc002ynk.3	+	1	431_432	c.188_189TC>AG	c.(187-189)atc>aAG	p.I63K	BACH1_uc002ynj.3_Missense_Mutation_p.I63K|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	63	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CACTCAAGAATCGTAGGCCAGG	0.475000														47			24		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955016	141955016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:141955016C>T	uc003vxb.3	-	2	615	c.295G>A	c.(295-297)Gat>Aat	p.D99N	PRSS58_uc003vxc.4_Missense_Mutation_p.D99N	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATGTCATGATCAATAGAAGTG	0.403000														175			87		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910511	38910511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:38910511G>A	uc021uub.1	-	5	866	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Nonsense_Mutation_p.Q218*|RASGRP4_uc021uua.1_Nonsense_Mutation_p.Q218*|RASGRP4_uc021uuc.1_Nonsense_Mutation_p.Q218*|RASGRP4_uc021uud.1_Nonsense_Mutation_p.Q218*|RASGRP4_uc021uue.1_Nonsense_Mutation_p.Q218*|RASGRP4_uc021uuf.1_Nonsense_Mutation_p.Q204*	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	218	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGATAGCCTGGAAGGACCGG	0.622000														10			3		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586245	82586245	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82586245C>T	uc003uhx.2	-	4	4313	c.4024G>A	c.(4024-4026)Gaa>Aaa	p.E1342K	PCLO_uc003uhv.2_Missense_Mutation_p.E1342K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1273					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						TTGTCATCTTCCTTTTCCTAA	0.413000														21			15		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19443892	19443892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:19443892G>A	uc001bbi.3	-	72	10650	c.10646C>T	c.(10645-10647)tCc>tTc	p.S3549F	UBR4_uc001bbj.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3549					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACTTTAATGGAAGACAGCTT	0.423000														77			46		0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160120471	160120471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:160120471C>T	uc003fdh.3	+	3	439	c.326C>T	c.(325-327)tCc>tTc	p.S109F	IFT80_uc003fda.3_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.S109F|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.S84F|SMC4_uc003fdj.3_Missense_Mutation_p.S109F|SMC4_uc010hwd.3_Missense_Mutation_p.S109F|MIR15B_uc011boz.1_5'Flank|MIR16-2_uc003fdk.3_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	109					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.F108V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCGCTTTTCCTGTATTATC	0.323000														57			32		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49207281	49207281	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:49207281C>T	uc001ngy.3	-	5	1027	c.766G>A	c.(766-768)Gga>Aga	p.G256R	FOLH1_uc009yly.3_Missense_Mutation_p.G241R|FOLH1_uc009ylz.3_Missense_Mutation_p.G241R|FOLH1_uc001ngz.3_Missense_Mutation_p.G256R|FOLH1_uc009yma.3_Intron	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	256					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGGATATTTCCACGCTGGACA	0.468000														54			22		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697177	17697177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:17697177C>T	uc002rcl.1	-	0	2530	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E827K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	836										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTTTTACTTCCTCTTTCAAA	0.299000														9			11		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48149423	48149423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:48149423G>A	uc002efc.1	-	12	2238	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	631	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTCCACGGCCGACAGGGGGTC	0.637000														51			51		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542157	55542157	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:55542157C>T	uc003xsd.1	+	3	5863	c.5715C>T	c.(5713-5715)gaC>gaT	p.D1905D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1905					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			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)			AGGAAGCTGACTCTTTGGATA	0.408000														83			128		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983992	97983992	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:97983992G>T	uc003dsi.1	+	0	864	c.864G>T	c.(862-864)atG>atT	p.M288I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCAAGATATGATGGAGTCTC	0.413000														26			16		1.1804e-14	1.20566e-14	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3328323	3328323	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:3328323C>T	uc001akf.3	+	8	1644	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	PRDM16_uc001ake.3_Missense_Mutation_p.S521F|PRDM16_uc009vlh.3_Missense_Mutation_p.S222F|PRDM16_uc001akc.3_Missense_Mutation_p.S521F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	521	Pro-rich.				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)		TTCCCTCCATCCTTGTACCCC	0.687000			T	EVI1	"""MDS, AML"""									127			75		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28473512	28473512	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:28473512C>T	uc021yrx.1	-	3	477	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	GPX6_uc010jrg.1_Intron	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	143					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)	TGTTCTTTTTCTCCATTCACA	0.463000														75			16		0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48851964	48851964	+	Splice_Site	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:48851964T>C	uc010igk.3	+	6	473	c.257_splice	c.e6-1	p.L86_splice	OCIAD1_uc011bzk.2_Splice_Site|OCIAD1_uc003gyo.3_Splice_Site_p.L81_splice|OCIAD1_uc003gyq.3_Splice_Site_p.L81_splice|OCIAD1_uc003gyp.3_Splice_Site_p.L81_splice|OCIAD1_uc003gyr.3_Splice_Site_p.L81_splice|OCIAD1_uc021xoc.1_Splice_Site_p.L81_splice	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	81	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TACAAATAAGTTGCTTGTATC	0.303000														29			10		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417738	57417738	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:57417738C>T	uc001cyp.3	-	4	716	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	C8B_uc010oon.2_Missense_Mutation_p.E155K|C8B_uc010ooo.2_Missense_Mutation_p.E165K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	217	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTGTAGCTTTCCACATTGTAG	0.552000														75			53		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55038833	55038833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:55038833G>A	uc003dhf.3	+	31	2782	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	CACNA2D3_uc003dhg.1_Missense_Mutation_p.E818K|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	912						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCCAACAAGGAAAGCAGCGA	0.458000														48			30		0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24761407	24761407	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:24761407C>T	uc001woj.2	-	5	906	c.637G>A	c.(637-639)Gat>Aat	p.D213N	HP08474_uc021rro.1_Intron|DHRS1_uc010aln.2_Non-coding_Transcript|DHRS1_uc001wok.3_Missense_Mutation_p.D213N	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA.	213						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AACACAGGATCCTGCAGGACC	0.577000														117			72		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9459570	9459570	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:9459570G>A	uc021wam.1	+	35	3514	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	PLCB4_uc010gbx.3_Silent_p.A1166A|PLCB4_uc021wal.1_Silent_p.A1154A|PLCB4_uc002wnh.3_Silent_p.A1001A	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	500					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGTTATAGGCGAAGGAGATGC	0.458000														30			17		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901700	23901700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:23901700G>A	uc001wjx.3	-	5	624	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	173	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATCAGGATGGACTGGTTTTC	0.587000														85			33		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113351887	113351887	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:113351887C>T	uc003ian.4	+	10	1411	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	ALPK1_uc003iap.4_Missense_Mutation_p.S395F|ALPK1_uc011cfx.2_Missense_Mutation_p.S317F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.S223F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	395							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCAGCACTTCCTCCAGAAGT	0.478000														41			70		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117660637	117660637	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:117660637G>A	uc001twn.2	-	26	4671	c.3960C>T	c.(3958-3960)ttC>ttT	p.F1320F	NOS1_uc021ren.1_Silent_p.F950F|NOS1_uc021reo.1_Silent_p.F950F|NOS1_uc001twm.2_Silent_p.F1286F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1286					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E1320K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCGGCACCCGAAGACCAGGA	0.582000														62			36		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024244	20024244	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:20024244G>A	uc001umd.3	-	13	1156	c.945C>T	c.(943-945)atC>atT	p.I315I	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Silent_p.I204I|TPTE2_uc001ume.3_Silent_p.I238I|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	315	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAATCGCTACGATGTTTTCAA	0.313000														29			13		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103573072	103573072	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:103573072C>T	uc003ykt.2	+	1	821	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	238	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CCGTGTTATCCCTGTGGAAGC	0.547000														71			100		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271592	164271592	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:164271592T>A	uc003iqn.3	+	3	349	c.167T>A	c.(166-168)tTt>tAt	p.F56Y	NPY5R_uc021xtw.1_Missense_Mutation_p.F56Y	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	56					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTTCTTGGCTTTATGGGGAAT	0.383000														49			85		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321450	52321450	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:52321450C>T	uc003xqu.4	-	16	2835	c.2734G>A	c.(2734-2736)Gac>Aac	p.D912N	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	912					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACCGAAGGGTCTCTGAGAGCC	0.587000														21			26		0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100511292	100511292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:100511292G>A	uc001vok.3	+	2	458	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	CLYBL_uc010tix.2_Missense_Mutation_p.E143K|CLYBL_uc010tiy.2_Missense_Mutation_p.E143K	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	143					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAGTCCTGAAGAAATCCAGTG	0.512000														18			10		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561737	135561737	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:135561737C>T	uc003lbn.2	-	8	2469	c.2247G>A	c.(2245-2247)ctG>ctA	p.L749L	TRPC7_uc010jef.2_Silent_p.L685L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.L300L|TRPC7_uc010jeh.2_Silent_p.L688L|TRPC7_uc010jei.2_Silent_p.L633L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	749					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTGGAATTCAGCATGCCCA	0.433000														12			12		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936175	209936175	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:209936175G>C	uc001hho.3	+	4	931	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.E171Q|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.E151Q|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.E171Q	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	171						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)		GACAAAGGCAGAAGGACCAAC	0.483000														185			45		0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31116804	31116804	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:31116804T>C	uc010sju.2	+	2	508	c.128T>C	c.(127-129)gTg>gCg	p.V43A	TSPAN11_uc001rjp.3_Missense_Mutation_p.V43A|TSPAN11_uc010sjv.2_Missense_Mutation_p.V33A	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	Homo sapiens tetraspanin 11 (TSPAN11), mRNA.	43						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGACCCTGGTGGAGAAGAGT	0.657000														100			9		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814560	214814560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:214814560C>T	uc001hkm.3	+	11	3053	c.2879C>T	c.(2878-2880)tCc>tTc	p.S960F		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	960					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAATGAGTTCCATCATTTCT	0.348000														20			30		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282785	152282786	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152282785_152282786CC>TT	uc001ezu.1	-	2	4612_4613	c.4576_4577GG>AA	c.(4576-4578)gga>AAa	p.G1526K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1526	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGGTGTG	0.574000									Ichthyosis					474			155		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534309	47534309	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:47534309G>A	uc001cqu.1	+	1	196	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	65						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCCAGTAAAGGAGTTTGAGGT	0.458000														143			64		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039147	5039147	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:5039147C>T	uc002gau.1	+	16	2818	c.588C>T	c.(586-588)ttC>ttT	p.F196F	USP6_uc002gav.1_Silent_p.F196F|USP6_uc010ckz.1_5'UTR|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	196	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCGCCTTGTTCCTCCTTTATC	0.617000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									112			60		0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40310296	40310296	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:40310296G>A	uc021olz.1	-	8	1037	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	TRIT1_uc001ced.4_Silent_p.V37V|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Silent_p.V95V|TRIT1_uc001ceh.4_Silent_p.V95V|TRIT1_uc009vvv.3_Silent_p.V174V|TRIT1_uc001cei.4_Silent_p.V95V|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Silent_p.V37V|TRIT1_uc001cek.3_Silent_p.V37V|TRIT1_uc009vvx.3_Non-coding_Transcript|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Silent_p.V259V|TRIT1_uc001cen.3_Silent_p.V95V|TRIT1_uc001ceo.3_Silent_p.V95V|TRIT1_uc001cep.3_Silent_p.V95V	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	341					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGACAGGGGGGACAATGGGAC	0.468000														48			21		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155324369	155324369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:155324369G>A	uc009wqq.3	-	15	7603	c.7123C>T	c.(7123-7125)Cgt>Tgt	p.R2375C	ASH1L_uc001fkt.3_Missense_Mutation_p.R2370C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2375					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.R2370C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTTTTTGACGAATCTTCTCC	0.373000														189			82		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160698800	160698800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:160698800G>A	uc002ubb.4	-	23	3310	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	LY75-CD302_uc010fos.3_Missense_Mutation_p.S1079F|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S1079F	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1079	C-type lectin 6.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.S1079F(3)									TTCACTGCAGGATGTAAAATT	0.363000														40			21		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306951	162306951	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:162306951T>G	uc003iqh.3	-	15	2928	c.2492A>C	c.(2491-2493)gAg>gCg	p.E831A	FSTL5_uc003iqi.3_Missense_Mutation_p.E830A|FSTL5_uc010iqv.3_Missense_Mutation_p.E821A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	831						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCAGTGATCTCACAGTTTAA	0.393000														60			75		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535633	130535633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:130535633C>T	uc003qbw.3	-	3	446	c.118G>A	c.(118-120)Gat>Aat	p.D40N	SAMD3_uc003qbx.3_Missense_Mutation_p.D40N|SAMD3_uc010kfg.1_Missense_Mutation_p.D40N|SAMD3_uc003qby.3_Missense_Mutation_p.D40N|SAMD3_uc003qbz.1_5'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	40	SAM.							p.N39S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACCATCCGATCATTAAGTGCA	0.413000														40			17		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212483927	212483928	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:212483927_212483928GG>AA	uc002veg.1	-	18	2373_2374	c.2275_2276CC>TT	c.(2275-2277)ccc>TTc	p.P759F	ERBB4_uc002veh.1_Missense_Mutation_p.P759F|ERBB4_uc010zji.1_Missense_Mutation_p.P749F|ERBB4_uc010zjj.1_Missense_Mutation_p.P749F|ERBB4_uc010fut.1_Missense_Mutation_p.P759F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	759	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATTTGCCTTGGGACCAGTTGTC	0.366000										TSP Lung(8;0.080)				45			19		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129108	83129108	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:83129108G>A	uc004eei.1	+	3	1413	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	CYLC1_uc004eeh.1_Silent_p.G463G	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	464					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAAGAAGGGGAAGAAAGATT	0.353000														2			6		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894590	151894590	+	Silent	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:151894590T>A	uc003qol.3	+	5	1145	c.1056T>A	c.(1054-1056)atT>atA	p.I352I		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	352																	TGGAGAAGATTCGAGAAATGG	0.493000														39			29		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52284631	52284631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:52284631C>T	uc003xqu.4	-	18	3804	c.3703G>A	c.(3703-3705)Gaa>Aaa	p.E1235K	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1235					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCAGGGTTTTCATACCAGAAC	0.502000														4			7		0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118328	68118328	+	Silent	SNP	T	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:68118328T>C	uc002aqy.1	+	1	135	c.135T>C	c.(133-135)agT>agC	p.S45S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	54					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCGAGGGCAGTTCCTCGCCCA	0.642000														38			25		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69104697	69104697	+	Missense_Mutation	SNP	C	T	T	rs148366673		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:69104697C>T	uc003xxv.1	+	36	4568	c.4541C>T	c.(4540-4542)tCc>tTc	p.S1514F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1514					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.S1514F(2)|p.S1514S(1)		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						CTGTCAGTTTCCTCGGAGCTG	0.562000														42			44		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521793	31521793	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:31521793G>A	uc003aju.4	+	1	1160	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	INPP5J_uc010gwf.3_Silent_p.P356P|INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Intron|INPP5J_uc003ajv.4_Intron|INPP5J_uc003ajs.4_Intron|INPP5J_uc011alk.2_Silent_p.P289P|INPP5J_uc010gwg.3_Intron	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	356	Pro-rich.					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCCACTCCCCGAATCGCTCTC	0.682000														7			5		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480210	96480210	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:96480210G>A	uc001kjv.4	+	5	1203	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C19_uc001kjw.4_Missense_Mutation_p.D234N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	293					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CACTGTAACTGATATGTTTGG	0.398000														32			19		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561402	44561402	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:44561402G>A	uc002lcr.1	-	0	587	c.234C>T	c.(232-234)ctC>ctT	p.L78L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	78	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCGGTCCACGAGCACCAGCT	0.642000														32			11		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101576786	101576786	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:101576786G>A	uc004eiv.4	+	26	3154	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	NXF2_uc022cau.1_Missense_Mutation_p.D428N|NXF2_uc004eiw.4_Missense_Mutation_p.D340N|NXF2_uc004eix.4_Missense_Mutation_p.D428N	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	428	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						TATTCCCTTCGACCCCAAGGA	0.582000														45			32		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55174728	55174728	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:55174728C>T	uc010ooe.1	+	22	4033	c.3709C>T	c.(3709-3711)Cgt>Tgt	p.R1237C	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.R755C|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R438C	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1237						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACAGAAGATCGTCTGAATGA	0.517000														81			50		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	876234	876234	+	Silent	SNP	C	T	T	rs149025034	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:876234C>T	uc003jbq.3	-	11	1532	c.1365G>A	c.(1363-1365)acG>acA	p.T455T	BRD9_uc003jbl.3_Silent_p.T339T|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Silent_p.T402T|BRD9_uc003jbo.3_Silent_p.T359T|BRD9_uc003jbp.3_Silent_p.T116T|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	455							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCTGGAAGAGCGTCCTAGAGT	0.632000														66			16		0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41204224	41204224	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:41204224G>A	uc003oqc.3	+	5	611	c.507_splice	c.e5-1	p.R169_splice	TREML4_uc003oqd.3_Splice_Site	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	169						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCCCTGCAGGAAATCAAGAG	0.597000														45			9		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703751	33703751	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:33703751C>T	uc001uuw.3	-	4	1189	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	STARD13_uc001uuu.3_Missense_Mutation_p.E347K|STARD13_uc001uuv.3_Missense_Mutation_p.E237K|STARD13_uc001uux.3_Missense_Mutation_p.E320K|STARD13_uc010abh.1_Missense_Mutation_p.E340K|STARD13_uc021rhz.1_Missense_Mutation_p.E347K|STARD13_uc021ria.1_Missense_Mutation_p.E237K	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	355					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTGTTGGCCTCGTGGCACTTG	0.632000														82			35		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516944	157516944	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:157516944G>A	uc009wsm.3	-	2	254	c.96C>T	c.(94-96)acC>acT	p.T32T	FCRL5_uc001fqu.3_Silent_p.T32T|FCRL5_uc010phv.1_Silent_p.T32T|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Silent_p.T32T|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	32	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGAAGACTGTGGTCCATGGAG	0.517000														141			65		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737953	152737953	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:152737953G>A	uc021zhb.1	-	38	5842	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	SYNE1_uc003qot.4_Silent_p.F1880F|SYNE1_uc003qou.4_Silent_p.F1873F|SYNE1_uc010kjb.1_Silent_p.F1856F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1873					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCTGGAGGAATTCTGCCA	0.542000										HNSCC(10;0.0054)				44			20		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954500	119954500	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:119954500G>A	uc001txe.3	+	7	1421	c.956G>A	c.(955-957)aGa>aAa	p.R319K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	319										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGATGCAAAGAAAAGCACCC	0.448000														31			17		0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867541	107867541	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:107867541G>A	uc001dvh.4	+	2	1602	c.884G>A	c.(883-885)gGa>gAa	p.G295E	NTNG1_uc001dvc.4_Missense_Mutation_p.G295E|NTNG1_uc010out.2_Missense_Mutation_p.G295E|NTNG1_uc001dvf.4_Missense_Mutation_p.G295E|NTNG1_uc001dvd.1_Missense_Mutation_p.G295E	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	295	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGGTGCGAGGAAGGTAAGAG	0.448000														69			38		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35289643	35289644	+	Missense_Mutation	DNP	AA	CG	CG			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:35289643_35289644AA>CG	uc011kas.2	-	1	779_780	c.299_300TT>CG	c.(298-300)att>aCG	p.I100T		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	100						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCTGCAGGCAATTTTGGCCAT	0.579000														97			22		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483963	43483963	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:43483963G>A	uc003tid.1	+	10	1797	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HECW1_uc011kbi.1_Missense_Mutation_p.E398K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	398					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAGCTGGGTGAGGGCAGTGT	0.597000														54			32		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750651	79750651	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:79750651C>T	uc002bew.1	+	1	2237	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	KIAA1024_uc010unk.1_Missense_Mutation_p.S721F	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	721						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCCACAGAGTCCAAAATTGCC	0.532000														51			24		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075953	56075953	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:56075953G>A	uc010spr.2	+	0	624	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	139							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TGGCTCCATGGATGTGGTGGT	0.577000														57			16		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44574126	44574126	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:44574126G>A	uc003tlb.3	-	5	2142	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	NPC1L1_uc011kbw.2_Silent_p.L696L|NPC1L1_uc003tlc.3_Silent_p.L696L|NPC1L1_uc003tld.3_Silent_p.L696L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	696	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGATGACCAGGGAGGAGCGG	0.597000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		127			69		0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	319838	319838	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:319838C>T	uc001lpa.2	-	1	503	c.402G>A	c.(400-402)taG>taA	p.*134*	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	0					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCTCCTGATCTATCCATAGG	0.577000														57			25		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50137844	50137844	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:50137844A>G	uc003jon.4	+	26	2689	c.2507A>G	c.(2506-2508)gAa>gGa	p.E836G	PARP8_uc011cpz.2_Missense_Mutation_p.E728G|PARP8_uc003joo.3_Missense_Mutation_p.E836G|PARP8_uc003jop.3_Missense_Mutation_p.E794G	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	836	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AATACACAAGAAGGAGGCATT	0.353000														55			96		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369074	56369074	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:56369074G>A	uc002qmd.4	+	2	737	c.315G>A	c.(313-315)caG>caA	p.Q105Q	NLRP4_uc002qmf.3_Silent_p.Q30Q|NLRP4_uc010etf.3_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	105							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACGCAAAGCAGAAATTCAGCC	0.438000														38			17		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802343	237802343	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:237802343C>T	uc001hyl.1	+	45	7077	c.6957C>T	c.(6955-6957)gtC>gtT	p.V2319V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2319	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAAATGTCGTGGTGAGAT	0.413000														51			14		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378035	19378035	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:19378035C>T	uc010tkp.2	+	0	442	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCTCTATCCTAATATCAT	0.448000														216			73		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379437	121379437	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:121379437G>A	uc003yox.3	+	45	5370	c.5105G>A	c.(5104-5106)gGa>gAa	p.G1702E	COL14A1_uc003yoz.3_Missense_Mutation_p.G667E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1702	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGAGAAAAAGGAAATCCAGGC	0.353000														30			20		0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1996725	1996725	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:1996725G>A	uc002cnh.3	-	6	899	c.852C>T	c.(850-852)atC>atT	p.I284I	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	284					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CGATGCGGAAGATCTGCCAGA	0.632000														49			22		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:121929509C>T	uc004bkc.2	-	7	2595	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000														52			43		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537465	55537465	+	Silent	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:55537465A>T	uc003xsd.1	+	3	1171	c.1023A>T	c.(1021-1023)atA>atT	p.I341I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	341					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			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)			GATTCAGAATAAAAGAGGAAG	0.323000														36			10		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228536	3228536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:3228536G>A	uc004crg.4	-	6	7865	c.7708C>T	c.(7708-7710)Ccg>Tcg	p.P2570S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2570	Ig-like C2-type 10.					extracellular region				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)				CTGGGTGTCGGGGTCCCCGCG	0.622000														5			12		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176686	41176686	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:41176686C>G	uc003jmk.2	-	7	1269	c.1059G>C	c.(1057-1059)ttG>ttC	p.L353F	C6_uc003jml.1_Missense_Mutation_p.L353F|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	353	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCGGCTGTACAAAGCAGAGT	0.423000														159			21		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859759	144859759	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:144859759C>T	uc021ouh.1	-	38	6627	c.6325_splice	c.e38+1	p.D2109_splice	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_Splice_Site_p.D2109_splice|PDE4DIP_uc001elx.4_Splice_Site_p.D2003_splice|PDE4DIP_uc001elv.4_Splice_Site_p.D1116_splice	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2109					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)		TCCTTCCTACCTTGGAGGAGC	0.572000			T	PDGFRB	MPD									87			14		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58303433	58303433	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:58303433T>A	uc002iyo.1	-	12	1685	c.1399A>T	c.(1399-1401)Act>Tct	p.T467S	USP32_uc002iyn.1_Missense_Mutation_p.T137S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	467	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGATGCAGTAGAAATGTTG	0.433000														85			32		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058294	42058294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:42058294C>T	uc010ucy.2	+	23	8195	c.8014C>T	c.(8014-8016)Cct>Tct	p.P2672S	MGA_uc010ucz.2_Missense_Mutation_p.P2463S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2633						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L2672L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGCAAATATCCTCATGAAGT	0.418000														53			41		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50599297	50599297	+	Silent	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:50599297G>T	uc010qgq.2	-	1	60	c.60C>A	c.(58-60)acC>acA	p.T20T	DRGX_uc021pqd.1_Silent_p.T15T	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	20					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GATTGCCAAAGGTTGCAGTGC	0.572000														5			5		2.0095e-06	2.02771e-06	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072801	17072801	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:17072801C>T	uc002zlp.1	-	0	900	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	214					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGAATCCTCCAGTGTCCCC	0.617000														126			47		0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93180791	93180791	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:93180791G>A	uc001yav.3	-	6	771	c.410C>T	c.(409-411)cCc>cTc	p.P137L	LGMN_uc001yat.3_Missense_Mutation_p.P137L|LGMN_uc001yau.3_Missense_Mutation_p.P137L|LGMN_uc001yaw.3_Missense_Mutation_p.P137L	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	137					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GTGATCCTGGGGGCCACTGCC	0.388000											OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			19		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544571	186544571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:186544571C>T	uc003iyg.3	-	12	2374	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.R767Q|SORBS2_uc003iyl.3_Missense_Mutation_p.R667Q|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.R571Q|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	667						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGTGGTAAATCGAGTGTAGGA	0.532000														107			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263666	140263666	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140263666G>C	uc003lif.2	+	0	1813	c.1813G>C	c.(1813-1815)Gcg>Ccg	p.A605P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.A605P|PCDHAC2_uc003lid.3_Missense_Mutation_p.A605P	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	618	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T605T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTACAATGCGTGGCTTTC	0.687000														251			18		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743404	16743404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:16743404C>T	uc010exm.2	-	4	452	c.304G>A	c.(304-306)Gct>Act	p.A102T	FAM49A_uc002rck.2_Missense_Mutation_p.A102T	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	102						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCTGAAGAGCTTTTTCTGAA	0.453000														30			28		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194537	36194537	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:36194537C>T	uc003tfa.3	+	1	1244	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	202					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GAGGTCCAGGCCCCCATCCAC	0.637000														103			80		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89154722	89154722	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:89154722A>C	uc021ryf.1	-	17	2884	c.2635T>G	c.(2635-2637)Ttt>Gtt	p.F879V	EML5_uc021ryg.1_Missense_Mutation_p.F879V|EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	879						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTCCAGAAAAAGCCATCTCT	0.443000														177			110		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88390262	88390262	+	Missense_Mutation	SNP	C	T	T	rs146964348	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:88390262C>T	uc001tam.1	-	5	538	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	C12orf50_uc001tan.3_Missense_Mutation_p.E178K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	124										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGTAGTATTCCCCTAATCAA	0.313000														33			25		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046845	175046845	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:175046845G>A	uc001gkl.1	+	1	404	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TNN_uc010pmx.1_Silent_p.K97K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	97					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCCACAGAAGGACTGCGAGT	0.602000														68			22		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110789085	110789085	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:110789085C>T	uc003hzx.4	+	1	936	c.743C>T	c.(742-744)tCg>tTg	p.S248L	LRIT3_uc003hzw.4_Missense_Mutation_p.S110L	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	248	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCTGACAGCTCGCCAGTTAAT	0.438000														145			37		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438000	124438000	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:124438000G>A	uc003ehg.3	+	59	8771	c.8644G>A	c.(8644-8646)Gat>Aat	p.D2882N	KALRN_uc003ehk.3_Missense_Mutation_p.D1185N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2881	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCCTTCTTGGATGAGAGCAA	0.517000														37			28		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525628	176525628	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:176525628G>A	uc001gkz.3	+	1	1334	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	PAPPA2_uc001gky.1_Missense_Mutation_p.R57Q|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCAAGGTTCGAAGACCCAGA	0.562000														124			40		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963377	73963377	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:73963377G>A	uc004eby.3	-	2	1632	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	339					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGACGCTGGGAAAAAAGTTG	0.458000														5			36		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083350	6083350	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:6083350C>T	uc010idb.1	-	5	1573	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E198K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E363K|JAKMIP1_uc003giu.4_Missense_Mutation_p.E363K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E198K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E363K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E363K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	363	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.E363K(3)|p.R362W(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCACGTTTTCCCGCGTGAGG	0.522000														78			31		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33018276	33018276	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:33018276C>T	uc001iwm.1	+	7	881	c.645C>T	c.(643-645)atC>atT	p.I215I	C10orf68_uc001iwl.1_Silent_p.I247I|C10orf68_uc001iwn.4_Silent_p.I239I|C10orf68_uc010qei.1_Silent_p.I151I|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	239										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTTAGAAATCAAAAAAAAGG	0.318000														27			11		0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27760940	27760940	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:27760940T>G	uc003cdy.3	-	2	1069	c.1069A>C	c.(1069-1071)Aat>Cat	p.N357H	EOMES_uc003cdx.3_Missense_Mutation_p.N357H|EOMES_uc010hfn.2_Missense_Mutation_p.N357H|EOMES_uc011axc.1_Missense_Mutation_p.N62H	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	357					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAACCAGTATTAGGAGACTCT	0.408000														65			34		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888116	34888116	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:34888116C>T	uc003teh.1	+	7	994	c.866C>T	c.(865-867)cCa>cTa	p.P289L	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.P289L|NPSR1_uc010kwt.1_Missense_Mutation_p.P136L|NPSR1_uc010kwu.1_Missense_Mutation_p.P79L|NPSR1_uc010kwv.1_Missense_Mutation_p.P223L|NPSR1_uc003tei.1_Missense_Mutation_p.P289L|NPSR1_uc010kww.1_Missense_Mutation_p.P278L|NPSR1_uc011kar.1_Missense_Mutation_p.P223L	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	289						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGTTGGAGTCCATACTTCCTG	0.483000														385			264		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554400	11554400	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:11554400G>A	uc002gne.3	+	12	2180	c.2112G>A	c.(2110-2112)ctG>ctA	p.L704L	DNAH9_uc010coo.3_5'UTR	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	704	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCAGTGCTGAAAGAAATGA	0.458000														114			55		0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515394	54515394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:54515394C>T	uc002qct.3	+	3	1324	c.734C>T	c.(733-735)tCc>tTc	p.S245F	CACNG6_uc002qcu.3_Missense_Mutation_p.S199F|CACNG6_uc002qcv.3_Missense_Mutation_p.S174F	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	245						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ACACTGCCTTCCTGGCCCTGG	0.672000														40			24		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189704603	189704603	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:189704603C>T	uc011bsk.2	-	5	1550	c.1162G>A	c.(1162-1164)Ggt>Agt	p.G388S	LEPREL1_uc003fsg.3_Missense_Mutation_p.G207S	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	388					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)	AACCCCAGACCTTCTGCAGCT	0.343000														113			59		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99030132	99030132	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:99030132T>G	uc001vnh.3	+	5	695	c.456T>G	c.(454-456)aaT>aaG	p.N152K	FARP1_uc001vnj.3_Missense_Mutation_p.N152K	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	152	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGACGTGTAATGACACCAGCG	0.473000														68			24		0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444071	23444071	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:23444071C>A	uc001whz.3	-	5	1772	c.1399G>T	c.(1399-1401)Ggc>Tgc	p.G467C	AJUBA_uc001why.3_Missense_Mutation_p.G50C	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	467	LIM zinc-binding 3.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										ATGGGTTGGCCACAGGCTGCA	0.577000														61			40		2.9001e-28	2.97127e-28	1	1	0
NRK	203447	broad.mit.edu	37	X	105178250	105178250	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:105178250G>A	uc004emd.3	+	20	3616	c.3313_splice	c.e20-1	p.E1105_splice	NRK_uc010npc.1_Splice_Site_p.E773_splice	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1105							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTCTTTTAGGAGCCAGGTGG	0.423000										HNSCC(51;0.14)				7			23		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718043	73718043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:73718043C>T	uc002sje.1	+	9	9065	c.8954C>T	c.(8953-8955)cCc>cTc	p.P2985L	ALMS1_uc002sjf.1_Missense_Mutation_p.P2943L|ALMS1_uc002sjg.3_Missense_Mutation_p.P2373L|ALMS1_uc002sjh.1_Missense_Mutation_p.P2373L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2985					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.F2984F(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACCATTTTCCCCTTCCTCAA	0.393000														56			29		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458688	155458688	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:155458688A>T	uc003qqb.3	+	6	2845	c.1572A>T	c.(1570-1572)gaA>gaT	p.E524D	TIAM2_uc003qqe.3_Missense_Mutation_p.E524D|TIAM2_uc010kjj.3_Missense_Mutation_p.E57D	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	524	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.K523N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCAGAAGGAAAGGAAGCTTG	0.557000														47			12		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65628823	65628823	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:65628823G>A	uc001ofv.4	+	2	621	c.268G>A	c.(268-270)Gac>Aac	p.D90N	CFL1_uc001ofs.3_5'Flank|CFL1_uc001oft.3_5'Flank|MUS81_uc001ofx.4_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	90					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TCCCGCAGGTGACCATGCCCC	0.592000								Homologous recombination						7			4		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280779	17280779	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:17280779G>A	uc002zlv.3	-	2	569	c.471C>T	c.(469-471)ttC>ttT	p.F157F	XKR3_uc011agf.2_Silent_p.F157F	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	157						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTGCTGCATGAAATTATCCC	0.398000														126			134		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150889962	150889962	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:150889962C>T	uc004fex.3	+	2	414	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	110						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCATACGTTTCCATTATGATC	0.602000														10			24		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123376971	123376971	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:123376971C>T	uc003pzi.1	+	4	1565	c.696C>T	c.(694-696)aaC>aaT	p.N232N		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	232	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATGGTAACAACCTGAACAGTC	0.453000														38			25		0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80059669	80059669	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:80059669C>T	uc002kdx.1	-	16	2674	c.2637G>A	c.(2635-2637)aaG>aaA	p.K879K		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	880										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)			GGGCTGCTGTCTTCATCCCTG	0.582000														36			25		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95542331	95542331	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:95542331C>T	uc002stw.1	+	5	1218	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	375					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.M374I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGAACATGTCCCTCACAGCAC	0.607000														9			8		0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31004528	31004528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:31004528C>T	uc010cad.2	-	8	821	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	STX1B_uc010vfd.2_Missense_Mutation_p.E237K	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	237	t-SNARE coiled-coil homology.				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						ACAGAATGTTCCACGTTGTAC	0.602000														166			96		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18895837	18895837	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:18895837C>T	uc002nke.3	-	15	1819	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	COMP_uc002nkd.3_Missense_Mutation_p.D562N|COMP_uc010xqj.2_Missense_Mutation_p.D542N	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	595	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCGCATAGTCGTCATCCGTG	0.552000														77			40		0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96133005	96133005	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:96133005G>A	uc003kmm.3	-	3	1018	c.671C>T	c.(670-672)tCt>tTt	p.S224F	ERAP1_uc003kml.3_Missense_Mutation_p.S224F|ERAP1_uc010jbm.2_Missense_Mutation_p.S36F|ERAP1_uc003kmn.3_Missense_Mutation_p.S224F	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	224					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AACAGTCACAGATTTCACCTA	0.333000														41			76		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141253291	141253291	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:141253291C>T	uc002tvj.1	-	55	9849	c.8877G>A	c.(8875-8877)ctG>ctA	p.L2959L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2959	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L2959L(2)		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)		CGTCATCCTTCAGTTGGAATC	0.408000										TSP Lung(27;0.18)				23			30		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086227	92086227	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:92086227G>A	uc001pdj.4	+	0	966	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	317	Cadherin 3.				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)				CCTGGCTAAGGAAGGAAAGTG	0.443000										TCGA Ovarian(4;0.039)				18			12		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130429	71130429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:71130429C>T	uc003tvy.3	+	6	1114	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	WBSCR17_uc003tvz.3_Missense_Mutation_p.P71S	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	372	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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)				GGAGGTCCTTCCTTGCTCACG	0.527000														136			112		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129662210	129662210	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:129662210G>A	uc003vpi.3	-	8	1416	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	ZC3HC1_uc010lma.3_Silent_p.T279T	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	463					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CCAAGAGGATGGTCAGCACTG	0.552000														137			78		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50943359	50943359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:50943359C>T	uc009xog.3	-	21	3063	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E	OGDHL_uc001jie.3_Missense_Mutation_p.G983E|OGDHL_uc010qgt.2_Missense_Mutation_p.G926E|OGDHL_uc010qgu.2_Missense_Mutation_p.G774E	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	983					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTTCCTGTTTCCTGTGGCTGG	0.582000														60			43		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785232	26785232	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:26785232G>A	uc001iss.3	+	4	394	c.73_splice	c.e4-1	p.S25_splice	APBB1IP_uc001isr.3_Splice_Site_p.S25_splice|APBB1IP_uc009xks.1_Splice_Site_p.S25_splice	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	25					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTTTTCACAGAGTTTAGGAG	0.378000														56			21		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153313022	153313022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:153313022C>T	uc001fbo.3	-	6	724	c.659G>A	c.(658-660)gGa>gAa	p.G220E	PGLYRP4_uc001fbp.3_Missense_Mutation_p.G216E	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	220					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCTGGCTCCCCACACAGA	0.592000														86			20		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176921	193176921	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:193176921C>T	uc003ftd.3	-	13	1731	c.1623G>A	c.(1621-1623)ggG>ggA	p.G541G	ATP13A4_uc003fte.1_Silent_p.G541G|ATP13A4_uc011bsr.1_Silent_p.G12G|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.G247G	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	541					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)		CCTGGATGGTCCCATCAAGAA	0.547000														61			32		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976306	131976306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:131976306G>A	uc002tsn.2	+	0	383	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	111							ATP binding										CTGCTGCAGGGGGAGCGGCAA	0.602000														39			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592993	179592993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179592993C>T	uc021vsy.1	-	63	16051	c.15826G>A	c.(15826-15828)Gaa>Aaa	p.E5276K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1937K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6203	Ig-like 33.						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)			GTAGATATTTCTTTTCCATCC	0.378000														30			8		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696590	69696590	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:69696590G>A	uc003hee.3	+	5	1605	c.1580G>A	c.(1579-1581)aGg>aAg	p.R527K	UGT2B10_uc011cam.2_Missense_Mutation_p.R443K	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	527					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAGGGAAAAAGGGATTAGTTA	0.378000														28			51		0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446415	43446415	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:43446415G>A	uc003jny.3	-	2	700	c.557C>T	c.(556-558)tCa>tTa	p.S186L	C5orf28_uc003jnv.4_Missense_Mutation_p.S186L|C5orf28_uc003jnx.3_Missense_Mutation_p.S186L	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	186						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AGGTAAAGATGATGTGATTAT	0.388000														49			104		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915810	26915810	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:26915810C>T	uc003jgs.1	-	2	620	c.451G>A	c.(451-453)Gat>Aat	p.D151N	CDH9_uc010iug.3_Missense_Mutation_p.D151N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	151	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H150R(2)		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						TCATTGATATCATGTATTTTA	0.383000														26			139		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237886483	237886483	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:237886483G>A	uc001hyl.1	+	73	10730	c.10610G>A	c.(10609-10611)aGg>aAg	p.R3537K	RYR2_uc010pxz.1_Missense_Mutation_p.R492K|RYR2_uc021pkz.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3537					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACCAAACAGGACTGATGAT	0.398000														113			38		0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70511803	70511803	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:70511803G>A	uc004dzo.3	+	4	1039	c.329G>A	c.(328-330)gGa>gAa	p.G110E	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.G110E|NONO_uc004dzp.3_Missense_Mutation_p.G110E|NONO_uc011mpv.2_Missense_Mutation_p.G21E|NONO_uc004dzq.3_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	110	DBHS.|RRM 1.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAGGATAAAGGATTTGGCTTT	0.428000			T	TFE3	papillary renal cancer									24			59		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505801	228505802	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:228505801_228505802GG>AA	uc009xez.1	+	52	14102_14103	c.14058_14059GG>AA	c.(14056-14061)acggca>acAAca	p.A4687T	OBSCN_uc001hsn.3_Missense_Mutation_p.A4687T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4687	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGCTTCACGGCAGAAGACCA	0.639000														91			39		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30793423	30793423	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:30793423C>T	uc003tbs.1	+	1	247	c.231C>T	c.(229-231)tcC>tcT	p.S77S	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.S76S	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	77						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CCTGTGATTCCTTCCAAGACA	0.567000														354			225		0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943561	76943561	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:76943561G>A	uc003hjl.4	-	2	341	c.236C>T	c.(235-237)tCg>tTg	p.S79L	ART3_uc003hji.3_Intron|ART3_uc003hjj.3_Intron|ART3_uc003hjk.3_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 10 (CXCL10), mRNA.	79					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity	p.S79S(1)		kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGGCCTTCGATTCTGGATT	0.383000														115			41		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413713	65413713	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:65413713G>A	uc001ofb.2	+	6	1452	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	SIPA1_uc010rom.1_Missense_Mutation_p.G429S|SIPA1_uc001ofd.2_Missense_Mutation_p.G429S|MIR4489_uc021qlo.1_5'Flank	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	429	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCGCCACATTGGCAACGACAT	0.592000														126			60		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001108	142001108	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:142001108C>T	uc011kro.1	+	1	245	c.200C>T	c.(199-201)tCc>tTc	p.S67F	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTTCTGGTTTCCTTTTATAAT	0.398000														9			9		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113024	57113024	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:57113024C>T	uc021tiu.1	+	42	5271	c.5144C>T	c.(5143-5145)tCc>tTc	p.S1715F	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Missense_Mutation_p.S257F|NLRC5_uc002ekr.1_Missense_Mutation_p.S602F	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1715				S -> F (in Ref. 7; BAB55096/BAB55098).	defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.H1717fs*29(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGGATGGATCCCCCCATTTG	0.647000														81			22		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33527455	33527455	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:33527455C>T	uc003jia.1	-	23	4786	c.4623G>A	c.(4621-4623)aaG>aaA	p.K1541K	ADAMTS12_uc010iuq.1_Silent_p.K1456K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1541	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACAGTTTGTCCTTAGTGCAAA	0.428000										HNSCC(64;0.19)				103			13		0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671495	238671495	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:238671495C>G	uc002vxe.3	+	10	1431	c.1139C>G	c.(1138-1140)tCt>tGt	p.S380C	LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Missense_Mutation_p.S356C|LRRFIP1_uc002vxf.3_Missense_Mutation_p.S324C	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	380					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAGAGCAGTTCTCTCCCTGAA	0.498000														69			46		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046776	175046776	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:175046776C>T	uc001gkl.1	+	1	335	c.222C>T	c.(220-222)gcC>gcT	p.A74A	TNN_uc010pmx.1_Silent_p.A74A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	74					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTCTTGGCCCTGGGGGAGG	0.597000														26			17		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153730128	153730128	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:153730128C>T	uc009wom.3	+	10	1259	c.1038C>T	c.(1036-1038)cgC>cgT	p.R346R	INTS3_uc001fct.3_Silent_p.R346R|INTS3_uc001fcu.3_Silent_p.R38R|INTS3_uc001fcv.3_Silent_p.R140R|INTS3_uc010peb.2_Silent_p.R140R|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	347					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding	p.R346H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTCTCTGCGCTGTGACCTCA	0.517000														73			112		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757427	75757427	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:75757427G>A	uc003kek.3	+	1	301	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	27					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTCTGCAGAGGAGATGGATGA	0.418000														193			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835412	61835412	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:61835412C>T	uc001jky.3	-	36	5565	c.5227G>A	c.(5227-5229)Gaa>Aaa	p.E1743K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1743	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATTTTTTCCTGTAACGTG	0.418000														28			16		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99500479	99500479	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:99500479C>T	uc002bul.3	+	20	3962	c.3912C>T	c.(3910-3912)ccC>ccT	p.P1304P	IGF1R_uc010bon.3_Silent_p.P1303P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1304					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGAGCGTCCCCCTGGACCCCT	0.677000														55			11		0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146757056	146757056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:146757056C>T	uc001epm.4	+	16	1973	c.1910C>T	c.(1909-1911)cCa>cTa	p.P637L	CHD1L_uc001epn.4_Missense_Mutation_p.P524L|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.P543L|CHD1L_uc010ozp.2_Missense_Mutation_p.P356L|CHD1L_uc001epo.4_Missense_Mutation_p.P433L|CHD1L_uc010ozq.1_Missense_Mutation_p.P210L|CHD1L_uc009wji.3_Missense_Mutation_p.P356L	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	637					DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GTTCTGAGTCCAGAAGAGCTG	0.493000														148			48		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87917361	87917361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:87917361C>T	uc003ydy.2	+	2	259	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	71										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAAGCAATATCCTAAAGTATT	0.363000														12			22		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496516	152496516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:152496516G>A	uc021vrb.1	-	59	8773	c.8744C>T	c.(8743-8745)tCt>tTt	p.S2915F	NEB_uc002txu.3_Missense_Mutation_p.S2915F|NEB_uc021vrc.1_Missense_Mutation_p.S2915F|NEB_uc010fnx.3_Missense_Mutation_p.S2915F|NEB_uc021vrd.1_Missense_Mutation_p.S2915F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2915					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACATCCAAAGAGCCAATGGA	0.403000														65			62		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166904225	166904225	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:166904225C>T	uc002udo.4	-	9	1309	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	SCN1A_uc010fpk.3_Missense_Mutation_p.G361D|SCN1A_uc021vsb.1_Missense_Mutation_p.G361D	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	361						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTTGTGTAGCCATAATTGGG	0.408000														81			52		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79454385	79454385	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:79454385G>A	uc001xun.3	+	11	2535	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E807K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACCTGCCAGGAAGATTCATG	0.438000														27			18		0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99169988	99169988	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:99169988C>T	uc003yij.4	+	15	2664	c.2564C>T	c.(2563-2565)gCc>gTc	p.A855V	POP1_uc011lgv.2_Missense_Mutation_p.A855V|POP1_uc003yik.3_Missense_Mutation_p.A855V	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	855					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTCCCCAGGGCCCTGGTTTGG	0.632000														82			27		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102573832	102573833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:102573832_102573833GG>AA	uc001phd.1	-	2	381_382	c.358_359CC>TT	c.(358-360)ccg>TTg	p.P120L		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	120					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P120L(2)|p.P120P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGCCATATCCGGAGTATAGTTT	0.347000														47			28		0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7829410	7829410	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:7829410G>A	uc002gjm.1	-	4	416	c.416C>T	c.(415-417)aCc>aTc	p.T139I	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	139						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				GTTCCCTAGGGTTCTTTCAGC	0.483000														62			39		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784668	82784668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82784668G>A	uc003uhx.2	-	1	1578	c.1289C>T	c.(1288-1290)cCa>cTa	p.P430L	PCLO_uc003uhv.2_Missense_Mutation_p.P430L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	381	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				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						TGCCTTAGCTGGAGACTGTAG	0.582000														172			90		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955141	30955141	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:30955141A>C	uc003nsh.2	+	1	1440	c.1189A>C	c.(1189-1191)Acg>Ccg	p.T397P	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.T381P	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	397	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGAGTCCAGCACGACCTCCAG	0.627000														437			119		0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431775	31431775	+	RNA	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:31431775C>T	uc003ntl.3	+	1		c.728C>T			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						tgtccaattcccctgtggcag	0.537000														144			20		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882432	152882432	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152882432G>A	uc021ozl.1	+	0	159	c.159G>A	c.(157-159)gtG>gtA	p.V53V	IVL_uc001fau.3_Silent_p.V53V	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	53					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTCCCAGTGGAGGTCCCAT	0.542000														90			27		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850459	216850459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:216850459G>A	uc001hkw.2	-	1	604	c.431C>T	c.(430-432)tCa>tTa	p.S144L	ESRRG_uc009xdp.1_Missense_Mutation_p.S121L|ESRRG_uc001hky.1_Missense_Mutation_p.S121L|ESRRG_uc001hkz.2_Missense_Mutation_p.S121L|ESRRG_uc010puc.2_Missense_Mutation_p.S121L|ESRRG_uc001hla.2_Missense_Mutation_p.S121L|ESRRG_uc001hlb.2_Missense_Mutation_p.S121L|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S121L|ESRRG_uc001hld.1_Missense_Mutation_p.S121L|ESRRG_uc001hkx.2_Missense_Mutation_p.S149L|ESRRG_uc009xdo.2_Missense_Mutation_p.S121L|ESRRG_uc001hle.2_Missense_Mutation_p.S121L|ESRRG_uc021piz.1_Missense_Mutation_p.S121L	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	144					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GGCTTCACATGATGCTACCCC	0.488000														108			45		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244307	56244307	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:56244307C>T	uc002qly.3	-	1	918	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	297	NACHT.					cytoplasm	ATP binding	p.G297*(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCACTGAATCCTAAGAGCTT	0.398000														25			16		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28296356	28296356	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:28296356G>A	uc002het.3	+	3	930	c.738G>A	c.(736-738)aaG>aaA	p.K246K	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.2_Silent_p.K190K|EFCAB5_uc010wbk.2_Intron|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Silent_p.K125K|EFCAB5_uc010csf.3_Silent_p.K125K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	246							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGACCTGAAGATATATGTTC	0.338000														20			11		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624578	44624578	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:44624578G>A	uc021xnx.1	-	5	713	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	232						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGGATGACATGATTCCAAAGA	0.458000														50			22		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887166	25887166	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:25887166G>A	uc001isj.3	+	10	2671	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	GPR158_uc001isk.3_Missense_Mutation_p.E246K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	871						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGAGTCCACGGAGTCGGTGCC	0.493000														52			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263294	140263294	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140263294G>T	uc003lif.2	+	0	1441	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.D481Y|PCDHAC2_uc003lid.3_Missense_Mutation_p.D481Y	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCTCAGGACGCGGACGC	0.662000														153			38		4.44712e-29	4.56325e-29	1	1	0
PSG9	5678	broad.mit.edu	37	19	43766069	43766069	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:43766069C>T	uc002owd.4	-	2	751	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG9_uc002owe.4_Missense_Mutation_p.E218K|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E218K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCCGTATTTCACATTCATAG	0.512000														256			148		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478995	179478995	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179478995C>T	uc021vsy.1	-	210	41650	c.41425G>A	c.(41425-41427)Gat>Aat	p.D13809N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.D7504N|TTN_uc021vta.1_Missense_Mutation_p.D7437N|TTN_uc021vtb.1_Missense_Mutation_p.D7312N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14736	Ig-like 94.						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)			CCACCATCATCGCGTGGTGGG	0.458000														33			34		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152786573	152786573	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:152786573C>T	uc021zhb.1	-	15	1975	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	SYNE1_uc003qot.4_Missense_Mutation_p.M591I|SYNE1_uc003qou.4_Missense_Mutation_p.M584I|SYNE1_uc010kjb.1_Missense_Mutation_p.M567I|SYNE1_uc003qpa.1_Missense_Mutation_p.M584I|SYNE1_uc003qow.3_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.M100I|SYNE1_uc003qoz.2_Missense_Mutation_p.M16I|SYNE1_uc003qoy.2_Missense_Mutation_p.M151I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	584					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATGAATTTCATCACATTCT	0.393000										HNSCC(10;0.0054)				18			11		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66941765	66941765	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:66941765G>A	uc004dwu.2	+	5	3524	c.2409G>A	c.(2407-2409)caG>caA	p.Q803Q	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.Q271Q	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	802	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCACCCCCCAGGAATTCCTGT	0.537000									Androgen Insensitivity Syndrome					11			57		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371055	55371055	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55371055C>T	uc010rii.2	-	0	820	c.795G>A	c.(793-795)atG>atA	p.M265I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCATCTTGTCCATGGGGAAAG	0.428000														75			36		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10413585	10413585	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:10413585C>T	uc003bvt.3	-	11	2006	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E478K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E478K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E228K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	523					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCGGGGATCTCTTTATAGTGG	0.547000														79			54		0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131823654	131823654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:131823654C>T	uc003kxa.2	-	2	385	c.151G>A	c.(151-153)Gat>Aat	p.D51N	IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D51N|IRF1_uc010jdt.2_Missense_Mutation_p.D51N	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	51					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		AAACAGGCATCCTTGTTGATG	0.532000														46			96		0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890587	197890587	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:197890587G>A	uc001guk.1	+	2	968	c.531G>A	c.(529-531)aaG>aaA	p.K177K	LHX9_uc001gui.1_Silent_p.K168K	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	177	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCGGCATGAAGGACAGCCTGG	0.617000														97			32		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113220765	113220765	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:113220765C>T	uc010mtz.3	-	19	3899	c.3562G>A	c.(3562-3564)Gaa>Aaa	p.E1188K	SVEP1_uc010mua.1_Missense_Mutation_p.E1188K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1188					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.H1187N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCTGATTTCATGCCTCTTT	0.398000														17			8		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111918	145111918	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:145111918G>A	uc003zar.3	-	11	1721	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	547							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTCTGGTCCAGCTGCACGAAG	0.682000														11			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785194	82785194	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82785194C>T	uc003uhx.2	-	1	1052	c.763G>A	c.(763-765)Gga>Aga	p.G255R	PCLO_uc003uhv.2_Missense_Mutation_p.G255R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	255	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T254P(1)		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						ATTGGCTTTCCTGTACCTGGA	0.483000														59			21		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138068	203138068	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:203138068C>T	uc001gzh.1	-	8	1442	c.1383G>A	c.(1381-1383)ggG>ggA	p.G461G		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	461	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CAGATGCCTCCCCCAGCACAT	0.582000														229			97		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615533	55615533	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55615533C>T	uc010spf.2	+	0	725	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCTACTTGTTCCTCACACCTC	0.493000														49			20		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906308	42906308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:42906308C>T	uc003cme.3	+	2	492	c.314C>T	c.(313-315)tCc>tTc	p.S105F	CCBP2_uc003cmf.3_Missense_Mutation_p.S105F|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.S105F	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	105					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGGGGCATCTCCGTGGCCTGG	0.498000														121			75		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947384	144947384	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:144947384C>T	uc003zaa.1	-	0	51	c.38G>A	c.(37-39)gGc>gAc	p.G13D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	13						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)			GCTGTTGGTGCCTGGGACGGG	0.657000														53			22		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651391	207651391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:207651391C>T	uc001hfw.3	+	14	3006	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	CR2_uc001hfv.3_Missense_Mutation_p.P1022S|CR2_uc009xch.3_Missense_Mutation_p.P901S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	963	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCAATGGAACCCTCCCCTGGC	0.532000														68			11		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173852374	173852374	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:173852374G>A	uc003isv.3	+	8	1840	c.1104G>A	c.(1102-1104)agG>agA	p.R368R		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	368	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATATCTACAGGAAGTACGTTC	0.423000														186			41		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186048	101186048	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:101186048C>T	uc001dti.3	+	1	302	c.81C>T	c.(79-81)atC>atT	p.I27I	VCAM1_uc010ouj.2_Silent_p.I27I|VCAM1_uc001dtj.3_Silent_p.I27I	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	27	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.I27M(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTTTAAAATCGAGACCACCC	0.408000														77			30		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621206	144621206	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:144621206G>A	uc003yyd.2	-	1	360	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	111					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGTCTCTCAAGGACATGCTGC	0.662000														72			83		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3240564	3240564	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:3240564G>A	uc021xkv.1	+	65	9219	c.9074G>A	c.(9073-9075)aGc>aAc	p.S3025N		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	3025					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTCTGCACAGCACCGGGCAG	0.677000														40			6		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684421	100684421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:100684421C>T	uc003uxp.1	+	2	9777	c.9724C>T	c.(9724-9726)Ctt>Ttt	p.L3242F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3242	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)					GGCTAGCATCCTTTCAACAAC	0.502000														481			284		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140188444G>A	uc003lhi.2	+	0	1773	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E558K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E558K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000														29			75		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386106	41386106	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:41386106G>A	uc002opm.3	-	3	1079	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CYP2A7_uc002opo.3_Silent_p.S179S|CYP2A7_uc002opn.3_Silent_p.S128S	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	179						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGATGACATTGGAGACTGTGC	0.537000														64			29		0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931361	176931361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:176931361C>T	uc003mhk.3	-	5	1119	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	372	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGTTGGGCTCCGGGCCTAGC	0.642000														10			18		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47545777	47545777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:47545777C>T	uc002zia.1	+	25	2130	c.2048C>T	c.(2047-2049)tCc>tTc	p.S683F	COL6A2_uc002zhz.1_Missense_Mutation_p.S683F|COL6A2_uc002zhy.1_Missense_Mutation_p.S683F|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	683	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTATCGACTCCCTGTCGAGC	0.622000														45			23		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	557047	557047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:557047C>T	uc001lpx.3	-	7	827	c.764G>A	c.(763-765)gGa>gAa	p.G255E	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	255										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAATGCTTTCCAGAGGACTC	0.667000														12			19		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134825302	134825302	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:134825302G>A	uc003eqt.3	+	3	1193	c.818G>A	c.(817-819)gGg>gAg	p.G273E	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.G162R|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	273	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A272T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCCCTGCAGGGACATTCAAG	0.562000														33			18		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351324	10351324	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:10351324C>T	uc002gmn.3	-	33	4887	c.4776G>A	c.(4774-4776)agG>agA	p.R1592R	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1592					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGATGGTTCCTCTTTAGCT	0.423000														85			63		0	0	1	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149784891	149784891	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:149784891T>A	uc010pbl.2	-	0	346	c.346A>T	c.(346-348)Aag>Tag	p.K116*	HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.	116					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTCACGCGCTTGGCATGGATG	0.617000														64			77		0	0	1	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575233	153575233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:153575233C>T	uc002tyn.3	+	0	827	c.95C>T	c.(94-96)aCt>aTt	p.T32I	ARL6IP6_uc002tym.3_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.4_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 6 (ARL6IP6), transcript variant 1, mRNA.	32						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TCCTCCTTTACTCAGGGGGAC	0.701000														33			9		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900748	51900748	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:51900748G>A	uc002iua.2	+	0	510	c.354G>A	c.(352-354)atG>atA	p.M118I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	118					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.A117V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGTTGCGATGATCCCCCAGA	0.607000														68			48		0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43224650	43224650	+	Silent	SNP	A	G	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:43224650A>G	uc001chx.4	-	3	926	c.813T>C	c.(811-813)caT>caC	p.H271H	LEPRE1_uc001chw.2_Silent_p.H271H|LEPRE1_uc001chv.2_Silent_p.H271H	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	271					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGATGTAATGATCTGAAA	0.408000														41			31		0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101821541	101821541	+	RNA	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:101821541G>A	uc004ejf.1	+	12		c.1517G>A								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						TCAACCCTGAGGACCCAGAAC	0.537000														2			7		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104927787	104927787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:104927787G>A	uc003yls.3	+	4	1452	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	RIMS2_uc003ylp.3_Missense_Mutation_p.G626E|RIMS2_uc003ylw.2_Missense_Mutation_p.G434E|RIMS2_uc003ylq.3_Missense_Mutation_p.G434E|RIMS2_uc003ylr.3_Missense_Mutation_p.G481E|RIMS2_uc003ylt.3_Missense_Mutation_p.G27E|RIMS2_uc003ylu.1_Missense_Mutation_p.G17E|RIMS2_uc003ylv.1_Missense_Mutation_p.G17E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	704					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTAAAAAAAGGAAGTTTAGCT	0.323000										HNSCC(12;0.0054)				62			19		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59837684	59837684	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:59837684C>T	uc001nom.3	+	6	751	c.623C>T	c.(622-624)tCc>tTc	p.S208F	MS4A3_uc001non.3_Missense_Mutation_p.S162F|MS4A3_uc001noo.3_Missense_Mutation_p.S85F	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	208						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TAGGAAATTTCCTCACCTCCC	0.373000														38			31		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79385976	79385976	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:79385976G>A	uc001diq.4	-	9	1509	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTTCACTGAAGAACCAGAAGG	0.323000														60			31		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166916254	166916254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:166916254G>A	uc003irh.2	+	4	1203	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TLL1_uc021xud.1_Missense_Mutation_p.E186K|TLL1_uc011cjn.2_Missense_Mutation_p.E186K|TLL1_uc011cjo.2_Missense_Mutation_p.E10K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	186	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGGCACTGGGAAAAGCACAC	0.448000														79			116		0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68749553	68749553	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:68749553C>T	uc004dxk.3	+	2	1221	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	392						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						actcctatttccaccactacc	0.592000														1			13		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846804	47846804	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:47846804G>A	uc011dwm.2	-	2	1810	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	PTCHD4_uc011dwn.2_Silent_p.I339I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	592						integral to membrane	hedgehog receptor activity										TGGAGAAGATGATATCATTTC	0.418000														41			7		0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091546	11091546	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:11091546A>C	uc010shi.2	-	0	261	c.261T>G	c.(259-261)aaT>aaG	p.N87K	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	87					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTGTCCAGATATTAGTAAGCA	0.368000														26			13		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8607826	8607826	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:8607826C>A	uc003glm.3	+	4	994	c.820C>A	c.(820-822)Ccc>Acc	p.P274T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.P263T|CPZ_uc003gln.3_Missense_Mutation_p.P137T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	274					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTTGGTAACCCCCGCATCCA	0.617000														65			33		9.88483e-10	1.00503e-09	1	1	0
MTUS2	23281	broad.mit.edu	37	13	30075288	30075288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:30075288G>A	uc001usl.4	+	12	3941	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MTUS2_uc001usm.4_Missense_Mutation_p.E264K|MTUS2_uc010aau.3_Missense_Mutation_p.E174K|MTUS2_uc010tdq.2_Missense_Mutation_p.E47K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1285						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGCAGAACGAAGACCTCAA	0.428000														36			21		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766649	57766649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:57766649G>A	uc002yan.3	+	0	575	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	192						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGCACAGGCGGACGCAGACG	0.657000														67			89		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164770	151164770	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:151164770C>T	uc011bod.2	-	3	2999	c.2999G>A	c.(2998-3000)aGt>aAt	p.S1000N		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1000					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1000_N1003delSTVN(2)|p.S1000R(1)|p.N999D(1)		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)			GTTAACTGTACTATTTCTAGG	0.483000														47			33		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266022	39266022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:39266022G>A	uc001uwv.3	+	0	4850	c.4541G>A	c.(4540-4542)gGa>gAa	p.G1514E		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1514					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTCACCGATGGACGTAACCCT	0.443000														78			49		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131150	38131150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:38131150G>A	uc003atr.3	+	8	5078	c.4807G>A	c.(4807-4809)Gat>Aat	p.D1603N	TRIOBP_uc003atu.3_Missense_Mutation_p.D1431N	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1603					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGGACACAGGGATGACCTGGC	0.682000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			13		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541256	178541256	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:178541256G>T	uc003mjw.3	-	21	3350	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1083	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTTGTAGCCTGGGATGGAGCA	0.502000														80			6		2.7689e-08	2.80246e-08	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46305590	46305590	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:46305590C>T	uc011bzc.1	-	6	990	c.578G>A	c.(577-579)aGa>aAa	p.R193K	GABRA2_uc003gxc.3_Missense_Mutation_p.R248K|GABRA2_uc010igc.2_Missense_Mutation_p.R248K|GABRA2_uc003gxe.3_Missense_Mutation_p.R248K			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	248					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S192*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCAATTTTTCTTTTCAGGTG	0.363000														36			31		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988568	17988568	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:17988568G>T	uc002nhr.4	+	5	1082	c.735G>T	c.(733-735)tgG>tgT	p.W245C		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	245					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATACATTCTGGACTTTTGTGG	0.602000														94			9		7.03913e-09	7.13526e-09	1	1	0
CHRNB4	1143	broad.mit.edu	37	15	78921471	78921472	+	Missense_Mutation	DNP	GG	AA	AA	rs142694602	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:78921471_78921472GG>AA	uc002bed.1	-	4	1287_1288	c.1175_1176CC>TT	c.(1174-1176)ccc>cTT	p.P392L	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.P210L	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	392					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.N391T(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CTGCAGAGGCGGGGTTCACAAA	0.629000														21			16		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524423	55524423	+	Missense_Mutation	SNP	C	T	T	rs148051420		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55524423C>T	uc010spe.2	+	0	871	c.871C>T	c.(871-873)Cct>Tct	p.P291S		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGACAGATTTCCTGAGCTGAG	0.463000														134			73		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34340686	34340686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:34340686C>T	uc021uiv.1	+	26	4662	c.4565C>T	c.(4564-4566)cCc>cTc	p.P1522L	FHOD3_uc002kzs.1_Missense_Mutation_p.P1339L|FHOD3_uc002kzt.1_Missense_Mutation_p.P1322L|FHOD3_uc010dmz.1_Missense_Mutation_p.P1054L|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1322					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCTCGTCCCCCTCCGTGGAG	0.677000														18			17		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373538	86373538	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:86373538C>T	uc010sum.2	-	5	1197	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	MGAT4C_uc001tal.4_Silent_p.E322E|MGAT4C_uc001taj.4_Silent_p.E322E|MGAT4C_uc001tak.4_Silent_p.E322E|MGAT4C_uc001tai.4_Silent_p.E322E|MGAT4C_uc001tah.4_Silent_p.E322E	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	322					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCAGCTTATTCTCCGTCCCTT	0.403000														51			46		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975707	152975707	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152975707G>A	uc021ozo.1	+	0	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K	SPRR3_uc001fax.4_Missense_Mutation_p.E71K|SPRR3_uc001faz.4_Missense_Mutation_p.E71K|SPRR3_uc001fay.2_Missense_Mutation_p.E63K	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	71	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGGTCCCTGAGCCAGGCTG	0.582000														72			25		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186126	128186126	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:128186126C>T	uc002tol.3	+	8	1080	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	PROC_uc002tok.3_Silent_p.L330L|PROC_uc010yzi.2_Silent_p.L386L|PROC_uc010yzj.2_Silent_p.L225L|PROC_uc010yzk.2_Silent_p.L385L	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	330	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGCGCGAGCTCAATCAGGCCG	0.637000														86			28		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57301315	57301315	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:57301315G>A	uc002qnr.2	-	7	784	c.402C>T	c.(400-402)ttC>ttT	p.F134F	BC036412_uc010ygp.1_Non-coding_Transcript|BC036412_uc002qnp.1_Non-coding_Transcript|PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc010etp.2_Silent_p.F134F|PEG3_uc010ygs.1_Silent_p.F134F|PEG3_uc002qnq.2_Silent_p.F134F	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	273					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTGAGCAAGGAAACCTAGAA	0.532000														21			12		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356341	55356341	+	Silent	SNP	G	A	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55356341G>A	uc010spd.1	-	8	1474	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	TESPA1_uc001sgl.3_Silent_p.L309L|TESPA1_uc001sgm.3_Silent_p.L194L|TESPA1_uc010spb.1_Silent_p.L194L|TESPA1_uc010spc.1_Silent_p.L309L|TESPA1_uc001sgn.3_Silent_p.L447L	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	447																	TCCTGCCCATGAGATTCTTCT	0.502000														98			61		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70418950	70418950	+	Silent	SNP	C	T	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:70418950C>T	uc001xlt.2	+	1	477	c.195C>T	c.(193-195)tcC>tcT	p.S65S	SMOC1_uc001xls.2_Silent_p.S65S	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	65	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCTACGAGTCCATGTGTGAGT	0.582000														97			64		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735412	101735412	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:101735412delA	uc003knn.3	-	9	1833	c.1661delT	c.(1660-1662)ttafs	p.L554fs	SLCO6A1_uc003kno.3_Frame_Shift_Del_p.L301fs|SLCO6A1_uc003knp.3_Frame_Shift_Del_p.L554fs|SLCO6A1_uc003knq.3_Frame_Shift_Del_p.L492fs	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	554						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGCAGTTATTAATCCTTCTTT	0.328													---	128	---	---	30	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:92146721delT	uc003uly.3	-	4	1204	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_uc011khr.2_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.3_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													---	213	---	---	8	---					
FAM160B2	64760	broad.mit.edu	37	8	21951976	21951977	+	Frame_Shift_Ins	INS	-	GGCC	GGCC			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:21951976_21951977insGGCC	uc011kyx.2	+	1	122_123	c.71_72insGGCC	c.(70-72)cagfs	p.Q24fs	FAM160B2_uc011kyw.1_Frame_Shift_Ins_p.Q24fs|FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	24										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCTGCTGCAGGCCTTCGTGG	0.663													---	154	---	---	97	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	-	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:61828745_61828747delGTG	uc001jky.3	-	36	12230_12232	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													---	97	---	---	7	---					
OVOS2	0	broad.mit.edu	37	12	31298394	31298394	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:31298394delT	uc010sjy.1	-	11	1591	c.1591delA	c.(1591-1593)attfs	p.I531fs						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCAGCCACAATTTCCCCACTG	0.507													---	35	---	---	7	---					
CCDC70	83446	broad.mit.edu	37	13	52439773	52439793	+	RNA	DEL	TGGGAAGAGGAGAGACCTTTC	-	-	rs74087831	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:52439773_52439793delTGGGAAGAGGAGAGACCTTTC	uc010tgr.1	-	0		c.427_447delGAAAGGTCTCTCCTCTTCCCA			CCDC70_uc001vfu.4_In_Frame_Del_p.WEEERPF87del|CCDC70_uc021rjv.1_In_Frame_Del_p.WEEERPF87del			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCTGGGTTTTTGGGAAGAGGAGAGACCTTTCTGGGAAGAGG	0.443													---	46	---	---	24	---					
RBM11	54033	broad.mit.edu	37	21	15596777	15596777	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:15596777delG	uc002yjo.4	+	3	393	c.351delG	c.(349-351)gtgfs	p.V117fs	RBM11_uc002yjn.4_Frame_Shift_Del_p.V3fs|RBM11_uc002yjp.4_Frame_Shift_Del_p.V3fs	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	117							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AAATGTTGGTGGGCAGATCTT	0.299													---	4	---	---	2	---