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
CAMTA1	23261	broad.mit.edu	37	1	7796570	7796570	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:7796570C>T	uc001aoi.3	+	12	3440	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	CAMTA1_uc010nzv.1_Missense_Mutation_p.A165V|CAMTA1_uc001aok.4_Missense_Mutation_p.A121V|CAMTA1_uc001aoj.3_Missense_Mutation_p.A34V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGGGCTATGCCACCCTAATC	0.592000			T	WWTR1	epitheliod hemangioendothelioma									97			4		0	0	0.000602	0	0
SEL1L3	23231	broad.mit.edu	37	4	25849135	25849135	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:25849135T>C	uc003gru.4	-	1	666	c.514A>G	c.(514-516)Ata>Gta	p.I172V		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	172						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGCGTACTATCACTGCAGAT	0.408000														65			9		0	0	0.004482	0	0
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	A	A	rs146128865	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:152284263G>A	uc001ezu.1	-	2	3135	c.3099C>T	c.(3097-3099)caC>caT	p.H1033H	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1033	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)			GGCGGGATCCGTGTCTTTCTC	0.567000									Ichthyosis					669			167		0	0	0.014410	0	0
MYO16	23026	broad.mit.edu	37	13	109318372	109318372	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:109318372G>A	uc010agk.2	+	1	789	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MYO16_uc001vqt.1_Missense_Mutation_p.R34H	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	34					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	p.R34H(2)|p.V56I(1)		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)			TACTATGAGCGCGAGAAGGCT	0.527000														42			14		0	0	0.001855	0	0
DNAJC7	7266	broad.mit.edu	37	17	40140910	40140910	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:40140910G>A	uc002hyo.3	-	7	1039	c.758C>T	c.(757-759)gCc>gTc	p.A253V	DNAJC7_uc010wgb.2_Missense_Mutation_p.A197V|DNAJC7_uc002hyp.3_Missense_Mutation_p.A197V|DNAJC7_uc010wgc.2_Missense_Mutation_p.A111V|DNAJC7_uc010cxw.3_Non-coding_Transcript	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	253					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GAGTGCTTTGGCATTCTACAG	0.423000														84			51		0	0	0.014410	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169761	207169761	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:207169761C>T	uc002vbp.2	+	4	759	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	170							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						ATTGGTCAGGCTACAAATAAT	0.423000														36			10		0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40368357	40368357	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:40368357C>T	uc002omp.4	-	27	12999	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4331						extracellular region	protein binding	p.A4331T(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647000														260			30		0	0	0.010818	0	0
APOA1	335	broad.mit.edu	37	11	116707048	116707048	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:116707048C>T	uc001ppv.1	-	3	318	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	94	10 X approximate tandem repeats.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCCAGAACTCCTGGGTCACA	0.592000														81			23		0	0	0.012319	0	0
CLVS1	157807	broad.mit.edu	37	8	62371030	62371030	+	Silent	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:62371030C>T	uc003xuh.3	+	4	1230	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	302					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.S302Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCACACATCCTATAATGCAA	0.502000														51			20		0	0	0.002780	0	0
GMDS	2762	broad.mit.edu	37	6	1726688	1726688	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:1726688C>T	uc003mtq.3	-	8	1161	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GMDS_uc021ykn.1_Missense_Mutation_p.V287M	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	317					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding	p.H316H(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCACAGTCACGTGAACTTTG	0.507000														160			30		0	0	0.003271	0	0
IRAK3	11213	broad.mit.edu	37	12	66638280	66638280	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:66638280T>C	uc001sth.3	+	8	1004	c.902T>C	c.(901-903)tTg>tCg	p.L301S	IRAK3_uc010ssy.2_Missense_Mutation_p.L240S	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	301	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AACATCCTTTTGGATGATCAG	0.393000														50			16		0	0	0.006122	0	0
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:132887606C>A	uc010nrn.2	-	2	1132	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_uc004exe.2_Missense_Mutation_p.R312I|GPC3_uc011mvh.2_Missense_Mutation_p.R296I|GPC3_uc010nro.2_Missense_Mutation_p.R258I|GPC3_uc010nrp.2_Missense_Mutation_p.R184I	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					144			6		8.12818e-05	0.000121141	0.001984	1	0
CD244	51744	broad.mit.edu	37	1	160811431	160811431	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:160811431C>A	uc009wtq.3	-	1	547	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CD244_uc001fxa.3_Nonsense_Mutation_p.E108*|CD244_uc009wtr.3_Nonsense_Mutation_p.E108*|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	108	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTGACCTCCAGGCAGTAG	0.453000														90			22		4.26978e-12	6.685e-12	0.003330	1	0
ATP8A2	51761	broad.mit.edu	37	13	26411309	26411309	+	Silent	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:26411309C>A	uc001uqk.3	+	28	2905	c.2763C>A	c.(2761-2763)acC>acA	p.T921T	ATP8A2_uc010tdi.2_Silent_p.T856T|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.T471T	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	881					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATTTTCACCGCTTTGCCGC	0.498000														105			52		2.83923e-41	4.63243e-41	0.014410	1	0
FAM120C	54954	broad.mit.edu	37	X	54209051	54209051	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:54209051G>A	uc004dsz.4	-	0	664	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FAM120C_uc011moh.2_Missense_Mutation_p.A194V|FAM120C_uc004dta.2_Missense_Mutation_p.A194V	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	194										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCAGTTGCGCTGTCTGCCG	0.721000														15			7		0	0	0.001984	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400788	195400788	+	Silent	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400788G>A	uc003fuw.3	+	8	1278	c.84G>A	c.(82-84)ggG>ggA	p.G28G	SDHAP2_uc011btb.1_Missense_Mutation_p.A176T|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCGCCTCGGGGCAAACTCGCT	0.602000														26			3		0	0	0.001168	0	0
POLA1	5422	broad.mit.edu	37	X	24830876	24830876	+	Silent	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:24830876G>A	uc004dbl.3	+	28	3189	c.3174G>A	c.(3172-3174)ctG>ctA	p.L1058L		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1058					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACGCTGCTCTGGTTGTTGAGC	0.393000														50			20		0	0	0.014323	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									61			15		0	0	0.004990	0	0
BSN	8927	broad.mit.edu	37	3	49694614	49694614	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49694614C>T	uc003cxe.4	+	4	7739	c.7625C>T	c.(7624-7626)aCg>aTg	p.T2542M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2542					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACTGCAAACGGAGGAGCAG	0.632000														40			14		0	0	0.001855	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387343	61387343	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:61387343A>T	uc002ljk.4	+	6	740	c.569A>T	c.(568-570)aAa>aTa	p.K190I	SERPINB11_uc010xes.2_Missense_Mutation_p.K16I|SERPINB11_uc010dqd.3_Missense_Mutation_p.K77I|SERPINB11_uc002ljj.4_Missense_Mutation_p.K77I|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	191					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCAAAATAAATTTCAAGTA	0.348000														33			8		0	0	0.004482	0	0
AJAP1	55966	broad.mit.edu	37	1	4832380	4832380	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:4832380C>T	uc001alm.1	+	3	1339	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	AJAP1_uc001aln.3_Missense_Mutation_p.R320W	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	320	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGCCACCAGCGGAAGACCAA	0.607000														60			10		0	0	0.008291	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:73188757G>A	uc003hgk.2	-	5	956	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	307	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363000														317			7		0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228404888	228404888	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:228404888C>T	uc009xez.1	+	7	2596	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	OBSCN_uc001hsn.3_Missense_Mutation_p.T851M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	851	Ig-like 8.				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	p.G850W(1)		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)				GATGTGGGGACGCGGCACCGG	0.652000														106			14		0	0	0.004007	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:49926533G>C	uc002pnn.1	-	0	166	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000														42			3		0	0	0.001168	0	0
AMMECR1	9949	broad.mit.edu	37	X	109459855	109459855	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:109459855A>G	uc004eoo.3	-	2	671	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AMMECR1_uc004eop.3_Missense_Mutation_p.L160P|AMMECR1_uc004eoq.3_Missense_Mutation_p.L74P	NM_015365	NP_001165160	Q9Y4X0	AMER1_HUMAN	Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1, mRNA.	197	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCTATCTTTAAGGGCACTGTT	0.378000														95			21		0	0	0.012319	0	0
FAM47B	170062	broad.mit.edu	37	X	34962025	34962025	+	Silent	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:34962025C>T	uc004ddi.2	+	0	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	359								p.D359D(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGAAGACGCACGGGCTC	0.537000														53			20		0	0	0.008871	0	0
RND3	390	broad.mit.edu	37	2	151326607	151326607	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:151326607G>A	uc002txg.3	-	5	814	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RND3_uc002txe.3_Missense_Mutation_p.S210L|RND3_uc010zbv.2_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	210					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGCTCTCTGTGATTTGTTCCG	0.458000														108			31		0	0	0.010818	0	0
SP100	6672	broad.mit.edu	37	2	231367785	231367785	+	Silent	SNP	A	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:231367785A>G	uc002vqt.3	+	19	1866	c.1725A>G	c.(1723-1725)agA>agG	p.R575R	SP100_uc002vqs.3_Silent_p.R575R|SP100_uc002vqu.1_Silent_p.R575R|SP100_uc010fxp.1_5'Flank	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	575					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCAGGAAGAAAAGCCAACA	0.289000														82			18		0	0	0.008871	0	0
POLR3D	661	broad.mit.edu	37	8	22107627	22107627	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:22107627C>A	uc003xbl.3	+	7	1044	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	POLR3D_uc003xbm.3_Missense_Mutation_p.L321M|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	321					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGGCTGACCTGACAGAGGG	0.542000														51			34		2.48696e-23	4.0154e-23	0.003271	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963361	73963361	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:73963361G>T	uc004eby.3	-	2	1648	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	344					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	p.T344A(1)		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						CTTGGGGCAGGTAGTAAAGAC	0.463000														69			17		1.5739e-10	2.43954e-10	0.004007	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	G	G	rs143004725	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:12885059C>G	uc001auk.2	-	3	1248	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	351								p.C351S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532000														294			4		0	0	0.006214	0	0
CASC5	57082	broad.mit.edu	37	15	40914116	40914116	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:40914116T>C	uc010bbs.1	+	10	1893	c.1732T>C	c.(1732-1734)Tca>Cca	p.S578P	CASC5_uc010ucq.1_Missense_Mutation_p.S402P|CASC5_uc001zme.3_Missense_Mutation_p.S552P|CASC5_uc010bbt.1_Missense_Mutation_p.S552P	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	578	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAGAGCCTGTCAAATCCTTT	0.358000														48			10		0	0	0.010729	0	0
USP53	54532	broad.mit.edu	37	4	120214081	120214081	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:120214081T>A	uc003ics.4	+	17	4003	c.2937T>A	c.(2935-2937)gaT>gaA	p.D979E	USP53_uc003icr.4_Missense_Mutation_p.D979E|USP53_uc003icu.4_Missense_Mutation_p.D602E	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	979					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATGAATGATGAAAGACATA	0.393000														49			9		0	0	0.004482	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967757	76967757	+	Silent	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:76967757C>T	uc002jwh.3	-	5	1838	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	LGALS3BP_uc002jwi.3_Silent_p.S359S	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	553					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.S553S(2)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			24		0	0	0.003330	0	0
NT5E	4907	broad.mit.edu	37	6	86203685	86203685	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:86203685T>C	uc003pko.4	+	8	2244	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	NT5E_uc010kbr.3_Missense_Mutation_p.L513P	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	563					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTAATATTTCTTTCACTTTGG	0.353000														90			12		0	0	0.001855	0	0
OR5D14	219436	broad.mit.edu	37	11	55563532	55563532	+	Silent	SNP	G	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:55563532G>T	uc010rim.2	+	0	501	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGCTCTCCGGTTAAACTTCT	0.502000														163			34		6.05902e-23	9.68194e-23	0.003755	1	0
PRPS2	5634	broad.mit.edu	37	X	12838861	12838861	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:12838861C>T	uc004cva.3	+	5	955	c.812C>T	c.(811-813)gCt>gTt	p.A271V	PRPS2_uc004cvb.3_Missense_Mutation_p.A268V|PRPS2_uc010nec.3_Missense_Mutation_p.A146V	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	268					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCCTTTGAGGCTGTTGTCGTC	0.483000														70			19		0	0	0.010504	0	0
AP4E1	23431	broad.mit.edu	37	15	51260560	51260560	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:51260560T>G	uc001zyx.2	+	14	2059	c.1952T>G	c.(1951-1953)cTt>cGt	p.L651R	AP4E1_uc021skz.1_Missense_Mutation_p.L576R	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	651					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGGAAAAGCTTTCTCAGGAA	0.373000														14			6		0	0	0.001984	0	0
ANK1	286	broad.mit.edu	37	8	41543690	41543690	+	Missense_Mutation	SNP	C	T	T	rs138642972	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:41543690C>T	uc003xok.3	-	35	4454	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R773H|ANK1_uc003xoi.3_Missense_Mutation_p.R1457H|ANK1_uc003xoj.3_Missense_Mutation_p.R1457H|ANK1_uc003xol.3_Missense_Mutation_p.R1457H|ANK1_uc003xom.3_Missense_Mutation_p.R1498H	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1457H(2)|p.I1456I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522000														72			25		0	0	0.006320	0	0
TMCC3	57458	broad.mit.edu	37	12	94975589	94975589	+	Silent	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:94975589G>A	uc001tdj.2	-	1	922	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TMCC3_uc001tdi.2_Silent_p.N237N	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	268						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACTGGTTTCCGTTACTGTCGG	0.592000														93			24		0	0	0.002780	0	0
NLRP12	91662	broad.mit.edu	37	19	54299148	54299148	+	Silent	SNP	C	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:54299148C>G	uc002qcj.4	-	8	3286	c.3066G>C	c.(3064-3066)cgG>cgC	p.R1022R	NLRP12_uc010eqw.3_Silent_p.R247R|NLRP12_uc002qch.4_Silent_p.R1021R|NLRP12_uc002qci.4_Silent_p.R964R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	1021					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GATGGCTCAGCCGCTTGCAAA	0.557000														38			5		0	0	0.000602	0	0
ACSM1	116285	broad.mit.edu	37	16	20635526	20635526	+	Silent	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:20635526G>A	uc002dhm.1	-	11	1607	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.A513A	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	513					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGACAATAAAGGCCTTCACCA	0.473000														69			21		0	0	0.014323	0	0
DNAH2	146754	broad.mit.edu	37	17	7643864	7643864	+	Silent	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7643864C>T	uc002giu.1	+	8	1517	c.1503C>T	c.(1501-1503)cgC>cgT	p.R501R	DNAH2_uc002git.3_Silent_p.R583R|DNAH2_uc010vuk.2_Silent_p.R501R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	501	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCTCCCGCGAGGTGCGGC	0.672000														112			17		0	0	0.007413	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390428	8390428	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:8390428C>T	uc001apb.3	+	3	875	c.875C>T	c.(874-876)cCg>cTg	p.P292L	SLC45A1_uc001apc.3_5'UTR	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	292					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGAGAGGCCGCTGCGGCCG	0.697000														34			32		0	0	0.013726	0	0
BCL11A	53335	broad.mit.edu	37	2	60679728	60679728	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:60679728C>T	uc010ypj.2	-	3	2582	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q	BCL11A_uc002sab.3_Silent_p.S768S|BCL11A_uc002sac.3_Missense_Mutation_p.R235Q|BCL11A_uc010ypi.2_Silent_p.S437S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAAGGGCTCTCGAGCTTCCAT	0.557000			T	IGH@	B-CLL									105			34		0	0	0.003755	0	0
KERA	11081	broad.mit.edu	37	12	91449807	91449807	+	Silent	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:91449807T>C	uc001tbl.3	-	1	871	c.252A>G	c.(250-252)gaA>gaG	p.E84E		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	84					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAGGAATGGTTTCTATCAGGT	0.348000														73			13		0	0	0.013537	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676803	37676803	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:37676803C>T	uc002ofq.3	-	4	1888	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ZNF585B_uc002ofr.1_Missense_Mutation_p.G360R	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCTCTCTCCAGTGTGAATT	0.383000														81			16		0	0	0.007413	0	0
CLSTN1	22883	broad.mit.edu	37	1	9794036	9794036	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:9794036A>C	uc001aqh.3	-	14	3034	c.2275T>G	c.(2275-2277)Ttc>Gtc	p.F759V	CLSTN1_uc001aqi.3_Missense_Mutation_p.F749V|CLSTN1_uc010oag.2_Missense_Mutation_p.F740V|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	759					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTGTGAAGGTCATGCCC	0.612000														78			16		0	0	0.007413	0	0
EDEM3	80267	broad.mit.edu	37	1	184695449	184695449	+	Silent	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:184695449T>C	uc010pom.2	-	6	948	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EDEM3_uc010pok.2_Silent_p.A229A|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Silent_p.A152A	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	229					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.V229M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGGTACCTGCACAAGCTG	0.388000														57			11		0	0	0.003163	0	0
DOCK5	80005	broad.mit.edu	37	8	25154057	25154057	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:25154057G>C	uc003xeg.3	+	6	636	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.3_Missense_Mutation_p.D167H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	167						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.D167D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTGGTGCGAGATGACAATGG	0.512000														15			4		0	0	0.009096	0	0
RS1	6247	broad.mit.edu	37	X	18660177	18660177	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:18660177C>T	uc004cyo.3	-	5	657	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	208	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GCAATGCGGACGTGCCAGCCC	0.657000														63			26		0	0	0.004656	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29433858	29433858	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:29433858G>C	uc002kxc.4	-	21	3751	c.3387C>G	c.(3385-3387)agC>agG	p.S1129R	TRAPPC8_uc002kxb.4_Missense_Mutation_p.S1075R|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1129					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTGTTTGCTACTACTTG	0.328000														36			9		0	0	0.006214	0	0
SMPD2	6610	broad.mit.edu	37	6	109764076	109764076	+	Missense_Mutation	SNP	C	T	T	rs139839878		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:109764076C>T	uc003pti.3	+	6	1007	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	205					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCTTGAAACTCGGGACTTCAA	0.542000														137			10		0	0	0.006214	0	0
ADAR	103	broad.mit.edu	37	1	154560602	154560602	+	Splice_Site	SNP	G	A	A	rs151241634	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:154560602G>A	uc001ffh.3	-	11	3261	c.3019_splice	c.e11+1	p.G1007_splice	ADAR_uc021pag.1_Splice_Site_p.G712_splice|ADAR_uc001ffj.3_Splice_Site_p.G962_splice|ADAR_uc001ffi.3_Splice_Site_p.G981_splice|ADAR_uc001ffk.3_Splice_Site_p.G712_splice	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1007	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATCACTCACCGTTCTCCACCT	0.537000														402			10		0	0	0.008291	0	0
PCSK2	5126	broad.mit.edu	37	20	17446133	17446133	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr20:17446133G>T	uc002wpm.3	+	10	1719	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	PCSK2_uc002wpl.3_Missense_Mutation_p.M436I|PCSK2_uc010zrm.2_Missense_Mutation_p.M420I|PCSK2_uc002wpn.3_Missense_Mutation_p.M109I	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	455					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGTGAAAATGGCTAAAGACT	0.567000														45			7		1.26484e-09	1.9411e-09	0.003080	1	0
S1PR2	9294	broad.mit.edu	37	19	10334891	10334891	+	Silent	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:10334891G>A	uc002mnl.2	-	1	802	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	S1PR2_uc021uos.1_Silent_p.L231L	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	231					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTTGAGCAGGGCTAGCGTC	0.617000														32			14		0	0	0.002450	0	0
ZNF479	90827	broad.mit.edu	37	7	57187713	57187713	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:57187713C>T	uc010kzo.3	-	4	1680	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	470					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)			GGCTTTGCCACATTCTTCACA	0.408000														77			21		0	0	0.003954	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661578	77661578	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:77661578C>T	uc011cbx.2	+	4	3205	c.2252C>T	c.(2251-2253)cCg>cTg	p.P751L	SHROOM3_uc011cbz.1_Missense_Mutation_p.P575L|SHROOM3_uc003hkf.1_Missense_Mutation_p.P626L|SHROOM3_uc003hkg.3_Missense_Mutation_p.P529L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	751					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCTCGCACCCGCACACATCC	0.692000														32			5		0	0	0.001168	0	0
USP51	158880	broad.mit.edu	37	X	55514135	55514135	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:55514135G>A	uc022bxu.1	-	0	1238	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	USP51_uc004dun.2_Missense_Mutation_p.S413L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATGAAAAAGCGAAGACATTTC	0.438000														45			14		0	0	0.002450	0	0
TNXB	7148	broad.mit.edu	37	6	32049264	32049264	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:32049264G>A	uc003nzl.2	-	9	4125	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1395	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCATCCCCCGCAACAGGCAC	0.617000														18			4		0	0	0.000602	0	0
GPR137B	7107	broad.mit.edu	37	1	236341829	236341829	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:236341829C>T	uc001hxq.3	+	2	671	c.580C>T	c.(580-582)Cga>Tga	p.R194*		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	194						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGTCTCTGTGCGAGTGGCCAT	0.478000														164			58		0	0	0.014410	0	0
SELE	6401	broad.mit.edu	37	1	169697059	169697059	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:169697059C>T	uc001ggm.4	-	8	1446	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	430	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GACAGCATCGCATCTCACAGC	0.498000														121			29		0	0	0.010818	0	0
RIMS1	22999	broad.mit.edu	37	6	72889453	72889453	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:72889453C>T	uc003pga.3	+	4	724	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	216					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			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)				CAAGAGCGATCGCGGTCTCAG	0.597000														150			5		0	0	0.001168	0	0
PRDM5	11107	broad.mit.edu	37	4	121698363	121698363	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:121698363A>C	uc003idn.3	-	12	1767	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G	PRDM5_uc003ido.3_Missense_Mutation_p.V475G|PRDM5_uc010ine.3_Missense_Mutation_p.V475G	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	506					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGATATGAACTCTGAGTGT	0.383000														129			32		0	0	0.003271	0	0
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:116960776C>T	uc003viz.3	-	1	455	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	52					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597000														29			9		0	0	0.008291	0	0
CSHL1	1444	broad.mit.edu	37	17	61987091	61987091	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:61987091C>T	uc002jda.1	-	4	711	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CSHL1_uc002jcz.1_Missense_Mutation_p.E194K|CSHL1_uc002jdb.1_Missense_Mutation_p.E123K|CSHL1_uc002jdc.1_Missense_Mutation_p.E134K|CSHL1_uc002jdd.1_Missense_Mutation_p.E155K	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	217						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CAGCTGCCCTCCACAGAGCGG	0.632000														65			41		0	0	0.006999	0	0
GYG2	8908	broad.mit.edu	37	X	2799186	2799186	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:2799186C>T	uc004cqs.1	+	11	1720	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	GYG2_uc004cqu.1_Missense_Mutation_p.R448C|GYG2_uc004cqx.2_Missense_Mutation_p.R409C|GYG2_uc004cqt.1_Missense_Mutation_p.R449C|GYG2_uc004cqv.1_Missense_Mutation_p.R223C|GYG2_uc004cqw.1_Missense_Mutation_p.R440C|GYG2_uc010ndc.1_Missense_Mutation_p.R258C	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	480					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGGAAGGCCGTATCGACTA	0.572000														29			7		0	0	0.003080	0	0
BSN	8927	broad.mit.edu	37	3	49691512	49691512	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49691512C>T	uc003cxe.4	+	4	4637	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622000														67			11		0	0	0.008291	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122438	153122438	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:153122438G>A	uc021ozu.1	-	0	149	c.149C>T	c.(148-150)cCa>cTa	p.P50L	SPRR2G_uc009wod.2_Missense_Mutation_p.P50L	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	50					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCCTGGCATGGTGGAGGTGG	0.567000														111			23		0	0	0.002780	0	0
FOLH1	2346	broad.mit.edu	37	11	49207240	49207240	+	Silent	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:49207240T>C	uc001ngy.3	-	5	1068	c.807A>G	c.(805-807)acA>acG	p.T269T	FOLH1_uc009yly.3_Silent_p.T254T|FOLH1_uc009ylz.3_Silent_p.T254T|FOLH1_uc001ngz.3_Silent_p.T269T|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.	269					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)	GGTAACCTGGTGTGAGAGGGT	0.428000														29			12		0	0	0.001855	0	0
CFP	5199	broad.mit.edu	37	X	47487019	47487019	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:47487019C>A	uc004dih.3	-	4	667	c.425G>T	c.(424-426)tGg>tTg	p.W142L	CFP_uc004dig.4_Missense_Mutation_p.W142L|CFP_uc004dii.1_Missense_Mutation_p.W78L|CFP_uc010nhu.2_Missense_Mutation_p.W142L	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	142	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCAGGGCCCCCAGCCAGACCA	0.632000														16			7		0.00198382	0.00284715	0.001984	1	0
TUBGCP4	27229	broad.mit.edu	37	15	43695930	43695930	+	Missense_Mutation	SNP	C	T	T	rs149549954	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:43695930C>T	uc001zro.3	+	15	2024	c.1784C>T	c.(1783-1785)tCg>tTg	p.S595L	TUBGCP4_uc001zrn.3_Missense_Mutation_p.S594L|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	595					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTTTTTGTTCGCTGGTCAGT	0.527000														21			22		0	0	0.003330	0	0
RYR2	6262	broad.mit.edu	37	1	237804239	237804239	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:237804239C>G	uc001hyl.1	+	46	7278	c.7158C>G	c.(7156-7158)aaC>aaG	p.N2386K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2386	4 X approximate repeats.		N -> I (in ARVD2 and CPVT1).		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	p.A2385A(1)		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)			ACATGGGGAACGCGATCATGA	0.443000														39			6		0	0	0.003080	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761742	130761742	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:130761742T>C	uc003qcb.3	+	1	2553	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P	TMEM200A_uc003qca.3_Missense_Mutation_p.S59P|TMEM200A_uc010kfh.3_Missense_Mutation_p.S59P|TMEM200A_uc010kfi.3_Missense_Mutation_p.S59P|TMEM200A_uc021zfg.1_Missense_Mutation_p.S59P	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	59						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCGGCTTTATTCCCCATCTGG	0.478000														86			60		0	0	0.014410	0	0
RNGTT	8732	broad.mit.edu	37	6	89563379	89563379	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:89563379C>T	uc003pmr.2	-	8	1221	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	RNGTT_uc003pms.2_Missense_Mutation_p.R334H|RNGTT_uc011dzu.1_Missense_Mutation_p.R274H|RNGTT_uc003pmt.2_Missense_Mutation_p.R334H	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	334	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAAATGCATACGAAGATCTTT	0.289000														90			12		0	0	0.013537	0	0
FRAS1	80144	broad.mit.edu	37	4	79400621	79400621	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:79400621T>G	uc003hlb.2	+	55	8632	c.8192T>G	c.(8191-8193)tTt>tGt	p.F2731C		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2726	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCTCTGATTTTAAATCTAGA	0.463000														39			15		0	0	0.002450	0	0
LAMA3	3909	broad.mit.edu	37	18	21489195	21489195	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:21489195A>G	uc002kuq.3	+	54	7180	c.7094A>G	c.(7093-7095)aAc>aGc	p.N2365S	LAMA3_uc002kur.3_Missense_Mutation_p.N2309S|LAMA3_uc002kus.4_Missense_Mutation_p.N756S|LAMA3_uc002kut.4_Missense_Mutation_p.N700S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2365	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTTGGGAAACATCTCTGAC	0.453000														69			13		0	0	0.013537	0	0
GPR116	221395	broad.mit.edu	37	6	46826760	46826760	+	Silent	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:46826760C>T	uc003oyo.3	-	16	3169	c.2880G>A	c.(2878-2880)agG>agA	p.R960R	GPR116_uc011dwj.1_Silent_p.R515R|GPR116_uc011dwk.1_Silent_p.R389R|GPR116_uc003oyp.3_Silent_p.R818R|GPR116_uc003oyq.3_Silent_p.R960R|GPR116_uc010jzi.1_Silent_p.R632R	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	960	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTTGGCAAGCCTGAAGTTCC	0.478000														97			16		0	0	0.004007	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401350	77401350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:77401350G>A	uc002ffc.4	-	3	1185	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	256					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCTTGCGTCGTCCACAAAAA	0.443000														72			18		0	0	0.010504	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36852	36852	+	RNA	SNP	G	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrGL000241.1:36852G>C	uc011mgv.2	-	0		c.24C>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AGCAGCACCAGGGCGGGGAGG	0.582000														14			3		0	0	0.004672	0	0
RXRG	6258	broad.mit.edu	37	1	165398112	165398112	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:165398112A>C	uc001gda.3	-	1	603	c.141T>G	c.(139-141)gaT>gaG	p.D47E	RXRG_uc021pea.1_5'UTR	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	47	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCACTGGGGTATCTGTGTAGC	0.607000														63			5		0	0	0.000602	0	0
OR9G9	390174	broad.mit.edu	37	11	56468417	56468417	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:56468417A>G	uc010rjn.2	+	0	554	c.554A>G	c.(553-555)gAg>gGg	p.E185G	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	185			E -> K (in dbSNP:rs11228735).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CCCTTGGTGGAGCTGGCCTGT	0.463000														112			30		0	0	0.007291	0	0
TRIT1	54802	broad.mit.edu	37	1	40318536	40318536	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:40318536C>A	uc021olz.1	-	3	441	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	TRIT1_uc001ced.4_Intron|TRIT1_uc001cee.4_Intron|TRIT1_uc001cef.4_Intron|TRIT1_uc001ceg.4_5'UTR|TRIT1_uc001ceh.4_Intron|TRIT1_uc009vvv.3_Missense_Mutation_p.G2C|TRIT1_uc001cei.4_Intron|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Intron|TRIT1_uc001cek.3_Intron|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.G63C|TRIT1_uc001cen.3_Intron|TRIT1_uc001ceo.3_Intron|TRIT1_uc001cep.3_Intron	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	143					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)			TTCTCAGTGCCCATCTCCTGG	0.448000														215			5		0.00116845	0.00169261	0.001168	1	0
AKR1B10	57016	broad.mit.edu	37	7	134212705	134212705	+	Silent	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:134212705C>T	uc003vrr.3	+	0	362	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	14					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAAGATGCCCATTGTGGGCC	0.502000														78			17		0	0	0.006122	0	0
HTR1E	3354	broad.mit.edu	37	6	87725427	87725427	+	Silent	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:87725427C>A	uc003pli.3	+	1	1078	c.375C>A	c.(373-375)acC>acA	p.T125T	HTR1E_uc021zcg.1_Silent_p.T125T	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	125					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGGCCATCACCAATGCTATTG	0.562000														127			17		1.67942e-08	2.55205e-08	0.006122	1	0
SEP15	9403	broad.mit.edu	37	1	87369113	87369113	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:87369113C>A	uc021oph.1	-	1	416	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SEP15_uc021opi.1_Nonsense_Mutation_p.E35*	NM_004261		O60613	SEP15_HUMAN	Homo sapiens 15 kDa selenoprotein (SEP15), transcript variant 1, mRNA.	32					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GATGAAAACTCTGCCCCAAAA	0.418000														19			11		2.68362e-12	4.2445e-12	0.013537	1	0
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr9:137591840C>T	uc004cfe.3	+	2	745	c.363C>T	c.(361-363)aaC>aaT	p.N121N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587000														113			27		0	0	0.007291	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54596855	54596855	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:54596855G>T	uc003dhf.3	+	5	621	c.573G>T	c.(571-573)tgG>tgT	p.W191C	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.W97C|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	191						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)		GGGTTTATTGGTCTGAATCTC	0.403000														38			10		1.76689e-08	2.65892e-08	0.006214	1	0
FOXP2	93986	broad.mit.edu	37	7	114282537	114282537	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:114282537G>A	uc003vhb.3	+	6	1222	c.848G>A	c.(847-849)gGc>gAc	p.G283D	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.G308D|FOXP2_uc003vha.3_Missense_Mutation_p.G191D|FOXP2_uc011kmv.2_Missense_Mutation_p.G282D|FOXP2_uc011kmu.2_Missense_Mutation_p.G300D|FOXP2_uc010ljz.2_Missense_Mutation_p.G191D|FOXP2_uc003vgx.2_Missense_Mutation_p.G283D|FOXP2_uc003vhc.3_Missense_Mutation_p.G308D|FOXP2_uc003vhd.3_Missense_Mutation_p.G283D	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	283					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACAATGGCATTAAACAT	0.428000														56			33		0	0	0.013726	0	0
FAM92B	339145	broad.mit.edu	37	16	85132864	85132864	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:85132864A>C	uc021tma.1	-	8	998	c.842T>G	c.(841-843)gTg>gGg	p.V281G	FAM92B_uc021tlz.1_Missense_Mutation_p.V279G	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	281										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CCCCTTAACCACCCACTCACA	0.532000														71			7		0	0	0.010504	0	0
CISH	1154	broad.mit.edu	37	3	50645154	50645154	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:50645154G>A	uc010hlq.3	-	3	999	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	CISH_uc003dax.3_Missense_Mutation_p.R221C	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	221	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGGCTGCGGGCACTGCTT	0.622000														97			23		0	0	0.003330	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400814	195400815	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400814_195400815insTT	uc003fuw.3	+	8	1304_1305	c.110_111insTT	c.(109-111)tctfs	p.S37fs	SDHAP2_uc011btb.1_Frame_Shift_Ins_p.V184fs|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		ACCTGGTTGTCTGGTCAGGCAT	0.574													---	29	---	---	7	---					
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:55151636delT	uc003han.4	+	16	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	PDGFRA_uc003haa.3_Frame_Shift_Del_p.F568fs	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			---	2168	---	---	9	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	-	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:56304530_56304532delCTG	uc003haz.1	-	22	3204_3206	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													---	603	---	---	8	---					
FAM21B	55747	broad.mit.edu	37	10	47909193	47909194	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr10:47909193_47909194delCC	uc009xni.3	+	9	763_764	c.763_764delCC	c.(763-765)cccfs	p.P255fs	FAM21B_uc001jep.4_Frame_Shift_Del_p.P150fs	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN	Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA.	255					retrograde transport, endosome to Golgi	WASH complex|early endosome membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTATTCACACCCCCCAAGCTG	0.515													---	4	---	---	2	---					
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7577105delG	uc002gim.2	-	7	1027	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.P278fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.P146fs|TP53_uc010cnf.1_Frame_Shift_Del_p.P146fs|TP53_uc002gii.1_Frame_Shift_Del_p.P146fs|TP53_uc010cni.1_Frame_Shift_Del_p.P278fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P278fs|TP53_uc002gij.2_Frame_Shift_Del_p.P278fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(119)|p.P278R(58)|p.P278S(53)|p.P278H(25)|p.P278T(22)|p.C277F(22)|p.P278A(20)|p.C277Y(15)|p.0?(8)|p.P278F(7)|p.P278fs*67(7)|p.C277*(7)|p.C277G(5)|p.C277C(4)|p.A276_R283delACPGRDRR(2)|p.V274_P278del(2)|p.P278fs*28(2)|p.L265_K305del41(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.F270_D281del12(2)|p.C277W(2)|p.C277S(2)|p.V272_K292del21(2)|p.C277fs*29(2)|p.A276fs*64(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C277R(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	13	---	---	38	---					
EMILIN2	84034	broad.mit.edu	37	18	2891806	2891806	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:2891806delC	uc002kln.3	+	3	1840	c.1681delC	c.(1681-1683)cctfs	p.P561fs		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	561					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGGAAAGCCTCATGGGAT	0.502													---	64	---	---	23	---					
CYTH4	27128	broad.mit.edu	37	22	37705324	37705326	+	In_Frame_Del	DEL	CTT	-	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr22:37705324_37705326delCTT	uc003arf.3	+	8	884_886	c.768_770delCTT	c.(766-771)accttc>acc	p.F258del	CYTH4_uc003are.2_3'UTR|CYTH4_uc011amw.2_In_Frame_Del_p.F201del	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	258					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCACTCACACCTTCTTCAATCCA	0.567													---	81	---	---	45	---					
