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
SHROOM3	57619	broad.mit.edu	37	4	77691829	77691829	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:77691829G>A	uc011cbx.2	+	9	6353	c.5400G>A	c.(5398-5400)gcG>gcA	p.A1800A	SHROOM3_uc003hkg.3_Silent_p.A1578A	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1800	ASD2.				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)			TCCAGGAGGCGAAGGGGAGCC	0.557000														71			13		0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228399626	228399626	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:228399626C>T	uc002vpc.2	+	7	1340	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	AGFG1_uc002vpd.2_Missense_Mutation_p.P388S|AGFG1_uc002vpe.2_Missense_Mutation_p.P364S|AGFG1_uc002vpf.2_Missense_Mutation_p.P324S	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	364					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGTTTCAGTTCCCAGTCAGTC	0.473000														80			13		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286191	113286191	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:113286191G>A	uc001pnz.3	-	3	996	c.675C>T	c.(673-675)acC>acT	p.T225T	DRD2_uc010rwv.2_Silent_p.T224T|DRD2_uc001poa.4_Silent_p.T225T|DRD2_uc001pob.4_Silent_p.T225T|DRD2_uc009yyr.1_Silent_p.T225T	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	225	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGCTGCGTTTGGTGTTGACTC	0.562000														125			26		0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335065	192335065	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:192335065C>T	uc001gsh.3	+	4	444	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	90	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.F90F(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ACATTGACTTCGGTACCAGAG	0.308000														80			18		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048034	58048034	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:58048034C>T	uc021rtp.1	-	3	751	c.702G>A	c.(700-702)aaG>aaA	p.K234K	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.K112K	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGTCAGCTTCTTTAAAGCCA	0.423000														22			4		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48993969	48993969	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:48993969G>A	uc003gyv.3	+	3	555	c.373G>A	c.(373-375)Gga>Aga	p.G125R	CWH43_uc011bzl.2_Missense_Mutation_p.G98R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	125					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CAGAATTTGGGGATTCATTTT	0.343000														49			10		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216065	20216065	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:20216065A>C	uc010tkt.2	+	0	479	c.479A>C	c.(478-480)cAg>cCg	p.Q160P		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M159I(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTATCATGCAGGTCATACTA	0.507000														25			5		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32816429	32816429	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:32816429C>T	uc003ocg.3	-	7	1901	c.1746_splice	c.e7+1	p.Q582_splice	TAP1_uc011dqi.2_Splice_Site_p.Q321_splice	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	582	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TAGGTTGTACCTGTAGCACTA	0.507000														137			24		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89661987	89661987	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:89661987C>T	uc002fnp.3	+	15	1870	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	CPNE7_uc002fnq.3_Silent_p.F505F	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	580	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCGTACAGTTCGTGCCCTTCC	0.667000														57			16		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224833	57224833	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:57224833G>A	uc010lyk.1	-	2	986	c.348C>T	c.(346-348)gtC>gtT	p.V116V	SDR16C5_uc003xsy.1_Silent_p.V116V|SDR16C5_uc010lyl.1_Intron	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	116				V -> I (in Ref. 1; BAB91014).	detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AAACATCGCCGACTTCTTTTT	0.363000														37			9		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519457	28519457	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:28519457G>A	uc001zbj.3	-	6	886	c.780C>T	c.(778-780)ttC>ttT	p.F260F	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	260					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGGACCTGAGGAACCTGGTCG	0.602000														38			5		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180819009	180819009	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:180819009G>A	uc010frh.1	-	15	1912	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	CWC22_uc002uno.2_Missense_Mutation_p.R60C|CWC22_uc002unp.2_Missense_Mutation_p.R538C	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	538	MI.					catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GTTTCCAAGCGATGGATGGTA	0.343000														24			5		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233297093	233297093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:233297093C>T	uc001hvl.2	-	17	3525	c.3290G>A	c.(3289-3291)tGg>tAg	p.W1097*	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1097						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGAGATCCCATTTTAAGAC	0.473000														48			7		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9782566	9782566	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:9782566C>T	uc003bse.3	+	3	2062	c.1663C>T	c.(1663-1665)Cca>Tca	p.P555S	BRPF1_uc003bsf.3_Missense_Mutation_p.P555S|BRPF1_uc003bsg.3_Missense_Mutation_p.P555S|BRPF1_uc011ati.2_Missense_Mutation_p.P555S	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	555	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAATGGGGTCCCATTGCTACG	0.557000														44			10		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54722532	54722532	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:54722532C>G	uc010erh.1	-	10	1697	c.1573G>C	c.(1573-1575)Gtc>Ctc	p.V525L	LILRB3_uc002qee.1_Missense_Mutation_p.V508L|LILRB3_uc002qef.1_Missense_Mutation_p.V508L|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.V508L|LILRB3_uc002qeh.1_Missense_Mutation_p.V508L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.V508L|LILRB3_uc002qek.1_Missense_Mutation_p.V508L|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.V508L|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.V508L|LILRB3_uc002qep.1_Missense_Mutation_p.V508L|LILRB3_uc002qeq.1_Missense_Mutation_p.V508L	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	508				R -> G (in Ref. 2; AAB87667).	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTCCTGGACGTCAGCAGCT	0.572000														91			13		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487686	63487686	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:63487686T>G	uc001nxq.3	+	2	1899	c.1712T>G	c.(1711-1713)aTt>aGt	p.I571S	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.I459S|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.I552S|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	571					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CAGCCTGATATTCTTGGAAGG	0.413000														78			21		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:146829338G>A	uc003weu.2	+	8	1600	c.1084_splice	c.e8-1	p.G362_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)				70			13		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226476	23226476	+	Missense_Mutation	SNP	G	C	C	rs143742457		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:23226476G>C	uc002dlm.1	+	12	1775	c.1636G>C	c.(1636-1638)Gtc>Ctc	p.V546L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	546					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTTGTCTGCGTCATCGAGAT	0.552000														55			15		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838731	110838732	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:110838731_110838732CC>TT	uc001vqw.4	-	26	2019	c.1897_splice	c.e26+1	p.G633_splice		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	633	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCAGGCCTCACCTGGCAGGCCT	0.624000														146			48		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15669713	15669713	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:15669713G>A	uc001rcv.2	+	8	2072	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	PTPRO_uc001rcw.2_Silent_p.K534K|PTPRO_uc001rcu.2_Silent_p.K534K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	534	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGGAATAAAGGATTTAATGC	0.423000														73			14		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70404865	70404865	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:70404865C>T	uc001jok.4	+	3	2884	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	793					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTTATAAATTCCTAAAAGACA	0.333000														31			13		0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317339	43317339	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:43317339C>T	uc021omh.1	+	3	1105	c.803C>T	c.(802-804)tCc>tTc	p.S268F	ZNF691_uc001cig.3_Missense_Mutation_p.S237F|ZNF691_uc009vwm.3_Missense_Mutation_p.S257F|ZNF691_uc001cih.3_Missense_Mutation_p.S264F|ZNF691_uc021omi.1_Missense_Mutation_p.S237F	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	268						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCGATATCTCCAACTTTGGA	0.582000														44			12		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635748	73635748	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:73635748C>T	uc002avp.3	-	1	2181	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	396					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGAATATATCGAATGAGGCG	0.572000														32			13		0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101379246	101379246	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:101379246A>T	uc001dtn.2	+	5	726	c.539A>T	c.(538-540)aAt>aTt	p.N180I	SLC30A7_uc001dto.2_Missense_Mutation_p.N180I	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	180	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCCCTCTTTAATGGTGCTCTA	0.408000														63			18		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51398398	51398398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:51398398C>T	uc001wyu.3	-	3	648	c.521G>A	c.(520-522)gGa>gAa	p.G174E	PYGL_uc010tqq.2_Missense_Mutation_p.G140E|PYGL_uc001wyw.4_Missense_Mutation_p.G174E	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	174					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CACCTGCCATCCATCTCGGAT	0.418000														43			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085991	9085991	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9085991G>A	uc002mkp.3	-	0	6028	c.5824C>T	c.(5824-5826)Cca>Tca	p.P1942S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1942	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTCCACTGGAATGGATGAA	0.498000														40			7		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698152	34698152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:34698152C>T	uc003teh.1	+	0	256	c.128C>T	c.(127-129)tCc>tTc	p.S43F	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S43F|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S43F|NPSR1_uc003tei.1_Missense_Mutation_p.S43F|NPSR1_uc010kww.1_Missense_Mutation_p.S43F|NPSR1_uc011kar.1_Missense_Mutation_p.S43F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	43						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAATGGGGTTCCTTCTACTAC	0.458000														91			16		0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54974109	54974110	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:54974109_54974110GG>AA	uc010yez.2	-	0	785_786	c.666_667CC>TT	c.(664-669)caccag>caTTag	p.Q223*		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	223					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTGGTTCCTGGTGCCCTGTGC	0.698000														31			23		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897098	105897099	+	Missense_Mutation	DNP	GG	AA	AA	rs76483951	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:105897098_105897099GG>AA	uc002tcq.3	-	5	1287_1288	c.1203_1204CC>TT	c.(1201-1206)caccct>caTTct	p.P402S	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.P172S|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P402S	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	402					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGAAGAGGAGGGTGGGACCGGG	0.569000														42			8		0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102564	87102564	+	RNA	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:87102564C>T	uc010osh.2	+	3		c.548C>T								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						TTCTATATTTCCAGAAGAAAC	0.383000														66			13		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496597	34496597	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:34496597G>A	uc003ojo.3	+	3	657	c.399G>A	c.(397-399)aaG>aaA	p.K133K	PACSIN1_uc003ojp.3_Silent_p.K133K	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	133					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGAGACGAAGGAGGCTGAAG	0.582000														100			29		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238004	132238004	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:132238004G>A	uc002tsu.4	+	3	931	c.738G>A	c.(736-738)ggG>ggA	p.G246G		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	246					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GATTTGATGGGGCCCTGAATG	0.582000														105			17		0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93185098	93185098	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:93185098G>A	uc001yav.3	-	3	591	c.230C>T	c.(229-231)tCt>tTt	p.S77F	LGMN_uc001yat.3_Missense_Mutation_p.S77F|LGMN_uc001yau.3_Missense_Mutation_p.S77F|LGMN_uc001yaw.3_Missense_Mutation_p.S77F	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	77					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TTACTCTTCAGAGTAAGCAAT	0.473000														31			9		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407065	140407065	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:140407065C>G	uc003eto.2	+	2	1747	c.1541C>G	c.(1540-1542)aCa>aGa	p.T514R		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	514						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACTCAGAAACAATGATTGCC	0.572000														74			25		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020480	5020480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:5020480G>A	uc010qyu.2	+	0	268	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTATGGTTGGATGCTCCAGA	0.488000														99			21		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685429	248685429	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:248685429C>T	uc001ien.1	+	0	482	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCAGTGCTCCCTCACTGTG	0.567000														45			8		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54128674	54128674	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:54128674C>T	uc002rxp.2	-	27	3154	c.3098G>A	c.(3097-3099)gGa>gAa	p.G1033E	PSME4_uc010yop.1_Missense_Mutation_p.G919E|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.G408E|PSME4_uc010fbv.1_Missense_Mutation_p.G177E|PSME4_uc021vho.1_Missense_Mutation_p.G1018E	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1033					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTGATTTCCAAGGAGACA	0.428000														76			22		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976926	119976926	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:119976926C>T	uc004bjt.2	-	2	827	c.726G>A	c.(724-726)aaG>aaA	p.K242K	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	242						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGCTTGCGCTCTTCTGGGGGA	0.642000														33			16		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69325614	69325614	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:69325614C>T	uc002ars.2	+	4	893	c.852C>T	c.(850-852)atC>atT	p.I284I	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.I238I|NOX5_uc002arp.2_Silent_p.I266I|NOX5_uc010bid.2_Silent_p.I249I|NOX5_uc010bie.2_Silent_p.I84I|NOX5_uc002arr.2_Silent_p.I256I|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	284					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCAGCTTCATCGCGGTAGGCT	0.637000														17			5		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31087763	31087763	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31087763G>A	uc002eap.3	+	1	407	c.118G>A	c.(118-120)Gag>Aag	p.E40K	ZNF668_uc010caf.3_5'Flank|ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.E40K	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGACAGTGAGGAGGCTGACAG	0.637000														102			23		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19500082	19500082	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:19500082G>A	uc001bbi.3	-	22	3020	c.3016C>T	c.(3016-3018)Ctg>Ttg	p.L1006L	UBR4_uc001bbm.1_Silent_p.L217L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1006					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCCTCCACAGTATCAAGAAG	0.453000														26			7		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	863796	863796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:863796G>A	uc001ifs.1	-	13	1605	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	522							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGCGACGGAGGCTTTGGTGGC	0.557000														69			24		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597954	49597954	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:49597954C>T	uc010rhy.2	+	1	545	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	LOC440040_uc009ymb.3_Missense_Mutation_p.H23Y					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GGACGAAGTTCATGAGAGGAA	0.517000														23			5		0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259868	35259868	+	Silent	SNP	G	A	A	rs143380983		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:35259868G>A	uc009vul.3	+	1	306	c.282G>A	c.(280-282)tcG>tcA	p.S94S	GJA4_uc001bya.3_Silent_p.S18S|GJA4_uc009vum.1_Silent_p.S18S|GJA4_uc021olb.1_Silent_p.S18S	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	18					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGAGCACTCGACCGTGGTGG	0.612000														39			12		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947312	148947312	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:148947312G>A	uc003wfp.3	+	1	215	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AAGCAACAGAGAAAAGCTCCT	0.502000														40			5		0	0	1	0	0
PAIP2	51247	broad.mit.edu	37	5	138700376	138700376	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:138700376C>T	uc003led.3	+	2	439	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	PAIP2_uc003lee.3_Nonsense_Mutation_p.Q88*|PAIP2_uc003lef.3_Nonsense_Mutation_p.Q88*	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	Homo sapiens poly(A) binding protein interacting protein 2 (PAIP2), transcript variant 2, mRNA.	88					negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGACCAAATCCAAGACCAGTT	0.373000														41			18		0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838526	155838526	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:155838526G>A	uc001fmg.3	+	1	1098	c.805G>A	c.(805-807)Gac>Aac	p.D269N	SYT11_uc010pgq.2_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	269						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGCAGGGGTGGACCCCAGCAC	0.562000														34			18		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494714	55494714	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:55494714C>T	uc021vbq.1	+	5	1759	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	NLRP2_uc010yfp.2_Silent_p.L527L|NLRP2_uc002qij.3_Silent_p.L550L|NLRP2_uc010esp.3_Silent_p.L528L|NLRP2_uc010esn.3_Silent_p.L526L|NLRP2_uc010eso.3_Silent_p.L547L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	550					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAACCCCGACCTGATCCAAGC	0.562000														39			44		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212483982	212483982	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:212483982C>T	uc002veg.1	-	18	2319	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R	ERBB4_uc002veh.1_Missense_Mutation_p.G741R|ERBB4_uc010zji.1_Missense_Mutation_p.G731R|ERBB4_uc010zjj.1_Missense_Mutation_p.G731R|ERBB4_uc010fut.1_Missense_Mutation_p.G741R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	741	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAGTTTCTCCTTCAGGTACC	0.363000										TSP Lung(8;0.080)				57			7		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579307	33579307	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:33579307T>G	uc001rll.1	-	1	572	c.275A>C	c.(274-276)aAc>aCc	p.N92T	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	92						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CGTAGTGATGTTGGAAGTCAC	0.428000														21			10		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231368904	231368904	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:231368904C>T	uc002vqt.3	+	20	1910	c.1769C>T	c.(1768-1770)cCa>cTa	p.P590L	SP100_uc002vqs.3_Missense_Mutation_p.P590L|SP100_uc002vqu.1_Missense_Mutation_p.P590L|SP100_uc010fxp.1_5'UTR	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	590					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)		CTTGCAGGTCCAAGAATTCCC	0.373000														38			12		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30129681	30129681	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:30129681A>G	uc002dws.3	-	2	632	c.532T>C	c.(532-534)Tgc>Cgc	p.C178R	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.C64R|MAPK3_uc002dwv.4_Missense_Mutation_p.C178R|MAPK3_uc002dwt.3_Missense_Mutation_p.C178R	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	178	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TTAAGGTCGCAGGTGGTGTTG	0.587000														37			3		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963003	96963003	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:96963003C>A	uc010how.1	+	4	1521	c.1478C>A	c.(1477-1479)tCc>tAc	p.S493Y	EPHA6_uc003drp.1_Missense_Mutation_p.S493Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	398	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T493K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCAACAATTCCGTGATAGTA	0.438000														51			23		2.79863e-10	2.82992e-10	1	1	0
CYP2C19	1557	broad.mit.edu	37	10	96495130	96495130	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:96495130G>A	uc001kjv.4	+	8	1728	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	CYP2C19_uc001kjw.4_Missense_Mutation_p.D409N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	468					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAGGATATTGACATCACCCC	0.498000														92			41		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21051232	21051232	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:21051232C>T	uc010vbe.2	-	32	4672	c.4672G>A	c.(4672-4674)Gat>Aat	p.D1558N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1558	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGCGTAATCTGGGACCATC	0.473000														81			27		0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41895783	41895783	+	Silent	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:41895783C>A	uc003bac.3	+	1	112	c.90C>A	c.(88-90)gcC>gcA	p.A30A		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	30					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCCAACGGGCCAAGGTGGCGA	0.517000														231			64		1.02487e-32	1.04482e-32	1	1	0
PRDM1	639	broad.mit.edu	37	6	106553250	106553250	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:106553250G>A	uc003prd.2	+	4	1449	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	PRDM1_uc003pre.3_Silent_p.S271S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	405					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCATCCCCTCGTACAACGCTC	0.582000			"""D, N, Mis, F, S"""		DLBCL									50			16		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867476	6867476	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:6867476T>C	uc001met.1	+	0	563	c.563T>C	c.(562-564)cTg>cCg	p.L188P		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGCTGAAGCTGGTCTGTGCA	0.522000														78			25		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200689	132200689	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:132200689G>A	uc002tst.2	-	0	1779	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GACGCCGAAGGAAACCCTCTG	0.622000														17			3		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669101	53669101	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:53669101G>A	uc010eqm.1	-	3	742	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACAGTAAAGGCTTTGCCAC	0.398000														50			43		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90167012	90167012	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:90167012A>T	uc002boe.3	+	19	3471	c.3471A>T	c.(3469-3471)ttA>ttT	p.L1157F	C15orf42_uc021sug.1_Missense_Mutation_p.L1156F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1157					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGAGTCCTTAAAAGACTCCT	0.473000														140			29		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926354	70926354	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:70926354C>T	uc021rvq.1	+	0	2138	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ADAM21_uc001xmd.3_Missense_Mutation_p.P713L	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	713					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTCTGGTCCCAAAGAAACT	0.373000														79			13		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16919090	16919090	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:16919090G>A	uc001ioo.3	-	56	8964	c.8912C>T	c.(8911-8913)tCc>tTc	p.S2971F	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.S327F	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2971	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R2970R(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTCACAGCGGAACGAGCTGG	0.453000														16			4		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33498383	33498383	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:33498383G>A	uc002hja.3	+	12	1835	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	UNC45B_uc002hjb.3_Missense_Mutation_p.V578M|UNC45B_uc002hjc.3_Missense_Mutation_p.V578M|UNC45B_uc010cto.3_Missense_Mutation_p.V499M	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	580					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CACCACCCTGGTGAACTGCAC	0.557000											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			20		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336856	127336856	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:127336856C>T	uc003ejp.3	+	11	2002	c.1945C>T	c.(1945-1947)Ctc>Ttc	p.L649F	MCM2_uc011bkm.2_Missense_Mutation_p.L519F|MCM2_uc010hsl.3_Intron|MCM2_uc011bkn.2_Missense_Mutation_p.L602F	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	649	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAACGTGGACCTCACAGAGCC	0.572000														27			10		0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26902769	26902769	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:26902769T>C	uc003acr.2	-	3	709	c.335A>G	c.(334-336)aAg>aGg	p.K112R	TFIP11_uc003acs.2_Missense_Mutation_p.K112R|TFIP11_uc003act.2_Missense_Mutation_p.K112R	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	112					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCAAAATCCTTAGGAAAGTC	0.473000														72			24		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44843419	44843419	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:44843419C>T	uc003cnx.4	+	12	1611	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C	KIF15_uc010hiq.3_Missense_Mutation_p.R391C|KIF15_uc003cny.1_Missense_Mutation_p.R123C	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	488					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGAGCAGGATCGTTTGCTCTC	0.378000														22			7		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167679	24167679	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:24167679C>T	uc003xdy.3	+	3	314	c.231C>T	c.(229-231)aaC>aaT	p.N77N	ADAM28_uc003xdx.3_Silent_p.N77N|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	77					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCTCCAGGAACCTCCTTGCAC	0.408000														23			4		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423561	88423561	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:88423561C>T	uc002bme.2	-	18	2580	c.2274G>A	c.(2272-2274)gtG>gtA	p.V758V	NTRK3_uc002bmh.2_Silent_p.V736V|NTRK3_uc002bmf.2_Silent_p.V744V|NTRK3_uc021sua.1_Silent_p.V736V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	758	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCAGAGGATCACCCCGAAGC	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				85			17		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170828506	170828506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:170828506G>A	uc003fhh.2	-	18	2626	c.2281C>T	c.(2281-2283)Cga>Tga	p.R761*	TNIK_uc003fhi.2_Nonsense_Mutation_p.R706*|TNIK_uc003fhj.2_Nonsense_Mutation_p.R732*|TNIK_uc003fhk.2_Nonsense_Mutation_p.R761*|TNIK_uc003fhl.2_Nonsense_Mutation_p.R677*|TNIK_uc003fhm.2_Nonsense_Mutation_p.R706*|TNIK_uc003fhn.2_Nonsense_Mutation_p.R732*|TNIK_uc003fho.2_Nonsense_Mutation_p.R677*	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	761	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R761*(3)|p.R761Q(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTTTACCTCGAACTCTGGTG	0.542000														11			3		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447430	12447430	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:12447430G>A	uc003bwx.3	+	4	760	c.669G>A	c.(667-669)gcG>gcA	p.A223A	PPARG_uc003bwr.3_Silent_p.A195A|PPARG_uc003bws.3_Silent_p.A195A|PPARG_uc003bwu.3_Silent_p.A195A|PPARG_uc003bwv.3_Silent_p.A195A|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Silent_p.A195A|PPARG_uc003bww.1_Silent_p.A223A	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	223	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.A223A(2)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGCTGTTGGCGGAGATCTCCA	0.512000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							62			15		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817575	158817575	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158817575G>A	uc001fsz.1	+	5	1245	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	349	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGGATCCATGGATGTAGTGGG	0.398000														88			56		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34660440	34660440	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:34660440C>T	uc002yrl.1	+	4	1095	c.684C>T	c.(682-684)atC>atT	p.I228I	IFNAR2_uc002yrk.1_Silent_p.I226I	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	247					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGGCCGTCATCCTCATGGCCT	0.552000														152			44		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3451138	3451138	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:3451138C>T	uc003ghc.3	+	13	1963	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S	HGFAC_uc010icw.3_Missense_Mutation_p.P661S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	654					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCTTGTGGCTCCCTCCTGACC	0.647000														57			14		0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995255	32995255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:32995255C>T	uc003cfg.1	+	1	509	c.341C>T	c.(340-342)tCc>tTc	p.S114F	CCR4_uc021wuw.1_Missense_Mutation_p.S114F	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	114					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						AAGATGATTTCCTGGATGTAC	0.483000														169			39		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38791428	38791428	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:38791428C>T	uc021yzh.1	+	27	3920	c.3811C>T	c.(3811-3813)Cct>Tct	p.P1271S	DNAH8_uc003ooe.2_Missense_Mutation_p.P1054S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGTTGAAGCCTATTATTGT	0.328000														29			8		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188086	152188086	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152188086C>T	uc001ezt.1	-	2	6095	c.6019G>A	c.(6019-6021)Gga>Aga	p.G2007R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2007					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGATCCATGTTGACCG	0.557000														497			56		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62377144	62377144	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:62377144G>A	uc010rly.1	-	4	899	c.591C>T	c.(589-591)tcC>tcT	p.S197S	EML3_uc001ntr.1_Silent_p.S169S|EML3_uc001nts.1_Silent_p.S169S|EML3_uc001ntt.1_Silent_p.S81S|EML3_uc001ntu.1_Silent_p.S197S|EML3_uc009yny.1_5'UTR			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	197						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCAGGGCTGGAGAGGGGGT	0.557000														149			53		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100257989	100257989	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:100257989C>G	uc004axj.3	+	16	3346	c.3121C>G	c.(3121-3123)Cga>Gga	p.R1041G	TDRD7_uc011lux.2_Missense_Mutation_p.R967G|TDRD7_uc011luy.2_Missense_Mutation_p.R361G	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	1041	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	p.R1041Q(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TATGGTGTTTCGAAATCATGT	0.488000														102			25		0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76019449	76019449	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:76019449C>T	uc002bax.1	+	3	615	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 1 (ODF3L1), mRNA.	131										kidney(1)|lung(1)	2						AGAAGATCCACCCACCGGGGG	0.617000														240			50		0	0	1	0	0
WHSC2	7469	broad.mit.edu	37	4	1993356	1993356	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:1993356G>A	uc003gem.3	-	1	573	c.330C>T	c.(328-330)tcC>tcT	p.S110S	WHSC2_uc003gel.3_Silent_p.S24S|WHSC2_uc003gen.3_Intron	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	99					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			TGTCCGGAAAGGACTTCAAGA	0.532000														96			23		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469578	72469578	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:72469578G>A	uc010izc.3	+	0	556	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	170						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CATAACCTCTGGAGGGGCAGC	0.532000														54			16		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70184524	70184524	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:70184524C>T	uc001opo.3	+	12	1751	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	PPFIA1_uc001opn.2_Silent_p.D512D|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	512					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTGAACTAGACCACATGAGAC	0.428000														45			22		0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232143165	232143165	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:232143165C>T	uc002vrq.4	+	15	1657	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	ARMC9_uc002vrp.4_Silent_p.N515N|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	515							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCCATGAAAACCATGAGGTAC	0.552000														77			18		0	0	1	0	0
SERTAD3	29946	broad.mit.edu	37	19	40947918	40947918	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40947918C>T	uc002onu.4	-	1	348	c.70G>A	c.(70-72)Gca>Aca	p.A24T	SERTAD3_uc002onv.4_Missense_Mutation_p.A24T|SERTAD3_uc021uut.1_Missense_Mutation_p.A24T	NM_013368	NP_976219	Q9UJW9	SRTD3_HUMAN	Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.	24					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAGGCCTGCTGGACTCCAC	0.607000														30			10		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192667	152192667	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152192667G>A	uc001ezt.1	-	2	1514	c.1438C>T	c.(1438-1440)Cag>Tag	p.Q480*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	480					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGCTGAGTGTAACCA	0.547000														277			51		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029299	219029299	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:219029299G>A	uc021vwq.1	-	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I	CXCR1_uc002vhc.3_Silent_p.I212I|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	212					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ACAGCGGCACGATGAAGCCAA	0.517000														74			20		0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154024015	154024015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:154024015G>A	uc003ezy.4	-	5	964	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	DHX36_uc010hvq.3_Missense_Mutation_p.R295C|DHX36_uc003ezz.4_Missense_Mutation_p.R295C	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	295	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCTGGAGACGAATTTGATAT	0.348000														51			26		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106494429	106494429	+	RNA	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106494429G>A	uc021ser.1	-	2337		c.41223C>T								Parts of antibodies, mostly variable regions.																		CCTTCAAGGTGATCTGGGACA	0.532000														33			7		0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844153	5844153	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:5844153G>A	uc002mdk.2	-	1	795	c.698C>T	c.(697-699)aCc>aTc	p.T233I	FUT3_uc002mdm.2_Missense_Mutation_p.T233I|FUT3_uc002mdj.2_Missense_Mutation_p.T233I|FUT3_uc002mdl.2_Missense_Mutation_p.T233I|FUT3_uc021unn.1_Missense_Mutation_p.T233I	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	233					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTCCATCATGGTCCCCTTGGG	0.612000														77			20		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781897	128781897	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:128781897G>A	uc001qet.3	+	1	1043	c.729G>A	c.(727-729)caG>caA	p.Q243Q	KCNJ5_uc009zck.3_Silent_p.Q243Q|KCNJ5_uc001qew.3_Silent_p.Q243Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	243					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGTCCCGGCAGACCAAAGAGG	0.607000														86			28		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22476351	22476351	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:22476351C>T	uc001wcu.4	+	1	385	c.287C>T	c.(286-288)tCc>tTc	p.S96F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.S96F|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		TCCACCAGTTCCTTCAACTTC	0.473000														17			4		0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309964	37309964	+	Missense_Mutation	SNP	C	T	T	rs140259727	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:37309964C>T	uc021utk.1	-	4	1711	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.G428R|ZNF790_uc021utl.1_Missense_Mutation_p.G428R|ZNF790_uc021utm.1_Missense_Mutation_p.G428R	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCTTCCCGCATTGCTTA	0.403000														79			19		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52539765	52539765	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:52539765G>A	uc010bff.3	-	14	1933	c.1771C>T	c.(1771-1773)Caa>Taa	p.Q591*	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	591	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGATTTTCTTGAAAAAAGTTG	0.428000														64			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179517255	179517255	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179517255C>T	uc021vsy.1	-	155	31980	c.31755G>A	c.(31753-31755)ccG>ccA	p.P10585P	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11512	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTCTTTCGGAGCCTCTG	0.373000														135			28		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639232	3639232	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:3639232G>A	uc002cvp.2	-	11	5034	c.4407C>T	c.(4405-4407)tcC>tcT	p.S1469S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1469	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGAGTCCCGGGGAGCGACAGT	0.662000								Direct reversal of damage						223			75		0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139047614	139047614	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:139047614T>A	uc004fbb.3	-	0	64	c.42A>T	c.(40-42)aaA>aaT	p.K14N		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	14						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGCAATTATTTTTCCAAATGG	0.328000														35			23		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:42354506G>A	uc010xwe.2	+	6	965	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_uc002orr.1_Silent_p.R171R|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GAAAAAGCAGGAAACTGAAGG	0.597000														55			47		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212987	26212987	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:26212987G>A	uc022buc.1	+	0	1024	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	MAGEB6_uc004dbr.3_Missense_Mutation_p.V342M	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	342	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGATAAGTACGTGGTTTACCG	0.498000														55			40		0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202334695	202334695	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:202334695C>T	uc002uyd.4	+	3	478	c.113C>T	c.(112-114)tCc>tTc	p.S38F	STRADB_uc021vvb.1_Missense_Mutation_p.S38F	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	38					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	p.S38F(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CCAACCCTTTCCTGGTCACGT	0.388000														26			8		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116918271	116918271	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:116918271C>T	uc003viz.3	-	4	1321	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	WNT2_uc003vja.3_Missense_Mutation_p.E245K	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	341					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)		TCCAGAGCTTCCAGGCAGTCC	0.597000														92			16		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107420172	107420172	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:107420172C>T	uc003ver.2	-	11	1559	c.1348G>A	c.(1348-1350)Gga>Aga	p.G450R	SLC26A3_uc003ves.2_Missense_Mutation_p.G415R	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	450					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATCAGCATTCCCTTTAAGTTT	0.383000														43			17		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872801	39872801	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:39872801C>T	uc010lwy.1	+	10	1185	c.943C>T	c.(943-945)Cct>Tct	p.P315S	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.P56S|IDO2_uc003xnp.1_Missense_Mutation_p.P56S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	302					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTACATGCCTCCTTCCCATAA	0.463000														58			11		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36492878	36492878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:36492878C>T	uc001bzp.3	+	11	1915	c.1570C>T	c.(1570-1572)Ccg>Tcg	p.P524S	EIF2C3_uc001bzq.3_Missense_Mutation_p.P290S	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	524	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGTCATCCTGCCGGGGAAGAC	0.433000														40			11		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56421973	56421973	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:56421973G>A	uc010ygg.2	-	5	2263	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	746							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGCAAGACAGAGACCCTTCA	0.463000														81			15		0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38446274	38446274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:38446274G>A	uc001cci.3	-	7	798	c.674C>T	c.(673-675)aCc>aTc	p.T225I	SF3A3_uc010oik.2_Missense_Mutation_p.T172I	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	225					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAGGAAAGGTCCCATTCTC	0.443000														58			10		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732887	92732887	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:92732887C>T	uc003umf.3	-	2	2794	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	SAMD9_uc003umg.3_Missense_Mutation_p.E842K|SAMD9_uc022ahg.1_Missense_Mutation_p.E842K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	842						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCACTTTTTTCAGGATTTTGT	0.358000														35			10		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113830325	113830325	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:113830325C>T	uc002tiu.3	+	1	85	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	IL1F10_uc002tiv.3_Missense_Mutation_p.L4F|IL1F10_uc002tiw.3_5'Flank	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	4						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						AATGTGTTCCCTCCCCATGGC	0.552000														16			3		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136913320	136913320	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:136913320G>A	uc004cew.3	-	5	1159	c.971C>T	c.(970-972)tCc>tTc	p.S324F	BRD3_uc004cex.2_Missense_Mutation_p.S324F	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	324						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GTGCTTCTTGGATAGCATCTC	0.622000			T	C15orf55	lethal midline carcinoma of young people									18			4		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856821	4856821	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:4856821G>T	uc003bqc.3	+	57	8091	c.7741G>T	c.(7741-7743)Gtt>Ttt	p.V2581F	ITPR1_uc021wsi.1_Missense_Mutation_p.V2548F|ITPR1_uc021wsj.1_Missense_Mutation_p.V2533F|ITPR1_uc011asu.2_Missense_Mutation_p.V559F|ITPR1_uc010hcc.2_Missense_Mutation_p.V316F|ITPR1_uc011asv.2_Missense_Mutation_p.V272F	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2596					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GATTTTTGGGGTTATCATTGA	0.448000														77			25		5.45024e-15	5.53366e-15	1	1	0
TENC1	23371	broad.mit.edu	37	12	53452878	53452878	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:53452878C>T	uc001sbp.3	+	17	1588	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	TENC1_uc001sbl.3_Nonsense_Mutation_p.Q361*|TENC1_uc001sbn.3_Nonsense_Mutation_p.Q495*|TENC1_uc001sbq.3_5'UTR|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_5'UTR	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	485					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCTTATGCCCAGGTGCAGCG	0.682000														88			28		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507313	155507313	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:155507313C>T	uc003iod.1	-	4	1326	c.1268G>A	c.(1267-1269)gGg>gAg	p.G423E	FGA_uc003ioe.1_Missense_Mutation_p.G423E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	423					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCCTTGTCCCTGGACTTAC	0.502000														192			40		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872467	4872467	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:4872467G>A	uc001qne.1	+	7	1500	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	470						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCACTCCGGGAAAAACTGAA	0.393000														65			15		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371788	240371788	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:240371788C>T	uc010pye.2	+	5	3913	c.3688C>T	c.(3688-3690)Cct>Tct	p.P1230S	FMN2_uc010pyd.2_Missense_Mutation_p.P1226S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1226	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCCCACTCCCTCCACCTGG	0.622000														20			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784211	140784212	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140784211_140784212CC>TT	uc003lkh.2	+	0	1692_1693	c.1692_1693CC>TT	c.(1690-1695)taccct>taTTct	p.P565S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.P565S	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	567					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCCTGTACCCTGCCCTCCC	0.559000														177			33		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33689848	33689848	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:33689848C>T	uc002hjg.4	-	1	1226	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SLFN11_uc010ctr.3_Missense_Mutation_p.E327K|SLFN11_uc010ctp.3_Missense_Mutation_p.E327K|SLFN11_uc010ctq.3_Missense_Mutation_p.E327K|SLFN11_uc002hjh.4_Missense_Mutation_p.E327K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	327						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGGAGCTTCTGAGAACACT	0.463000														69			22		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30785018	30785018	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:30785018G>A	uc002wxn.2	-	2	945	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCTCCTGCGAGTGGCTCTT	0.577000														35			4		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36106191	36106191	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:36106191G>A	uc003ols.3	+	8	830	c.732G>A	c.(730-732)acG>acA	p.T244T	MAPK13_uc003olt.3_Intron	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	244	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TGCCTGGCACGGAGTTTGTGC	0.607000														39			10		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558153	140558153	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140558153C>T	uc011dai.2	+	0	783	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	180	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R180W(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTATTTTCGGGTCCTCAC	0.493000														123			15		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158645977	158645977	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158645977G>A	uc001fst.1	-	7	1265	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	356					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGGGCACGAATATGCTCC	0.483000														118			59		0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90332736	90332736	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:90332736G>A	uc001kfe.3	-	3	585	c.450C>T	c.(448-450)tcC>tcT	p.S150S	RNLS_uc010qms.1_Silent_p.S67S|RNLS_uc001kfd.2_Silent_p.S150S	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 1, mRNA.	150						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						ACTGCTCAGGGGAGCCTGTTT	0.443000														64			26		0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805832	77805832	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:77805832G>A	uc003kfo.3	-	3	881	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	69						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CCTGGGTTCCGGATGCAGCGG	0.736000														24			7		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029589	93029589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:93029589G>A	uc022axs.1	-	2	455	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R4C|RUNX1T1_uc010mam.3_Missense_Mutation_p.R4C|RUNX1T1_uc003yfe.2_5'UTR|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R31C|RUNX1T1_uc022axo.1_Missense_Mutation_p.R31C|RUNX1T1_uc010mao.3_Missense_Mutation_p.R4C|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R42C|RUNX1T1_uc022axp.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axq.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axr.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axt.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axu.1_Missense_Mutation_p.R11C|RUNX1T1_uc022axv.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axw.1_Non-coding_Transcript|RUNX1T1_uc003yfb.2_5'UTR|RUNX1T1_uc003yff.1_5'UTR|RUNX1T1_uc003yfg.2_5'UTR	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	31					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCAGTACGATCTGGAGGA	0.448000														49			15		0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490303	141490303	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:141490303A>T	uc003vwr.1	+	0	287	c.142A>T	c.(142-144)Atc>Ttc	p.I48F		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	48					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TAACCTCATTATCCTGGGCCT	0.458000														52			31		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67267416	67267416	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:67267416C>A	uc002jif.2	-	19	3997	c.2779G>T	c.(2779-2781)Gat>Tat	p.D927Y	ABCA5_uc002jib.2_5'Flank|ABCA5_uc002jic.2_Missense_Mutation_p.D150Y|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.D927Y	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	927					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTAATAAGATCACTGATATCT	0.353000														29			8		0.000157383	0.0001577	1	1	0
WIZ	58525	broad.mit.edu	37	19	15533976	15533976	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15533976T>C	uc002nbc.3	-	7	2841	c.2818A>G	c.(2818-2820)Atc>Gtc	p.I940V	WIZ_uc002nba.4_Missense_Mutation_p.I807V|WIZ_uc002nbb.4_Missense_Mutation_p.I766V	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1623						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ATCTCCAGGATGTGCCGCTGT	0.617000														52			14		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47697641	47697641	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:47697641C>T	uc002eev.4	+	23	2384	c.2332C>T	c.(2332-2334)Ctt>Ttt	p.L778F	PHKB_uc002eeu.4_Missense_Mutation_p.L771F|PHKB_uc002eew.4_5'Flank	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	778	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CAGCCAAAAACTTTGGTTTGT	0.318000														20			5		0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65346451	65346451	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:65346451G>A	uc002jfy.3	-	4	384	c.298_splice	c.e4-1	p.A100_splice	PSMD12_uc002jga.3_Splice_Site_p.A80_splice|PSMD12_uc002jfz.3_Splice_Site_p.A41_splice|PSMD12_uc010det.1_Splice_Site_p.A100_splice	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	100					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TTTGGCAACAGCCTAAAATAT	0.348000														10			6		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253538	127253538	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:127253538G>C	uc010lld.1	-	4	793	c.587C>G	c.(586-588)gCt>gGt	p.A196G	PAX4_uc003vmf.2_Missense_Mutation_p.A194G|PAX4_uc003vmg.1_Missense_Mutation_p.A196G|PAX4_uc003vmh.3_Missense_Mutation_p.A194G	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	204					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTGGCAGTAGCCAGCTTTCC	0.587000														76			28		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74649138	74649138	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:74649138C>T	uc002lmi.3	+	25	4813	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1539					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGGAAGCCTTCCTTCAACAAC	0.537000														53			25		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279899	47279899	+	Missense_Mutation	SNP	G	A	A	rs138537119	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:47279899G>A	uc001cqn.4	+	6	878	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	CYP4B1_uc009vyl.1_Missense_Mutation_p.R101Q|CYP4B1_uc001cqm.4_Missense_Mutation_p.R264Q|CYP4B1_uc009vym.3_Missense_Mutation_p.R250Q|CYP4B1_uc010omk.2_Missense_Mutation_p.R101Q|CYP4B1_uc010oml.1_Missense_Mutation_p.R102Q	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	264					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ATCAGGGAGCGGAAGGCAGCC	0.572000														21			6		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11830040	11830040	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:11830040A>G	uc010buu.1	-	1	366	c.304T>C	c.(304-306)Tcc>Ccc	p.S102P	TXNDC11_uc002dbg.1_Missense_Mutation_p.S102P	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	102	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GACCTCAAGGAGAAAAAGCTG	0.448000														23			7		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365742	67365743	+	Missense_Mutation	DNP	AT	TA	TA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:67365742_67365743AT>TA	uc002lkl.3	+	4	709_710	c.512_513AT>TA	c.(511-513)aat>aTA	p.N171I		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	171	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATATCCACAATGCCAAGGTCA	0.450000														30			17		0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089159	42089159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:42089159C>T	uc010zwg.2	+	4	765	c.595C>T	c.(595-597)Cga>Tga	p.R199*	SRSF6_uc002xki.3_Nonsense_Mutation_p.R70*	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	199	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TAATAGGTCTCGATCTAGAAG	0.413000														54			9		0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42032642	42032642	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:42032642C>T	uc003bao.1	+	4	527	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	XRCC6_uc003bap.1_Missense_Mutation_p.L112F|XRCC6_uc011apc.1_Missense_Mutation_p.L103F|XRCC6_uc003bar.2_Missense_Mutation_p.L153F	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	153					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CTGTGCCAACCTCTTTAGTGA	0.502000								Non-homologous end-joining						68			14		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:22382594G>A	uc001yuc.1	+	6	1103	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000														164			34		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10391870	10391870	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:10391870C>T	uc003bvt.3	-	15	2769	c.2330G>A	c.(2329-2331)cGa>cAa	p.R777Q	ATP2B2_uc003bvv.3_Missense_Mutation_p.R732Q|ATP2B2_uc003bvw.3_Missense_Mutation_p.R732Q|ATP2B2_uc010hdo.3_Missense_Mutation_p.R482Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	777					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTTGTCAATTCGCTCCTGCTC	0.612000														33			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106453086	106453086	+	RNA	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106453086G>A	uc021ser.1	-	2606		c.44957C>T								Parts of antibodies, mostly variable regions.																		CCAAGAAGAGGATCCTCCAGG	0.542000														36			6		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193188721	193188722	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:193188721_193188722CC>TA	uc003ftd.3	-	8	977_978	c.869_870GG>TA	c.(868-870)ggg>gTA	p.G290V	ATP13A4_uc003fte.1_Missense_Mutation_p.G290V|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc003ftf.4_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	290					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.T289A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACTTTGTTCCCTGTCAAAAT	0.480000														131			42		0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230493007	230493007	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:230493007G>A	uc010pwb.2	-	1	209	c.185C>T	c.(184-186)cCa>cTa	p.P62L		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	62						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GACGTTGTCTGGGACAAAGAG	0.582000														57			37		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130715580	130715580	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:130715580C>T	uc011bli.2	+	22	2581	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L	ATP2C1_uc011blg.2_Missense_Mutation_p.P762L|ATP2C1_uc011blh.2_Missense_Mutation_p.P723L|ATP2C1_uc003enk.3_Missense_Mutation_p.P712L|ATP2C1_uc003enl.3_Missense_Mutation_p.P728L|ATP2C1_uc003enm.3_Missense_Mutation_p.P728L|ATP2C1_uc003enn.3_Missense_Mutation_p.P712L|ATP2C1_uc003eno.3_Missense_Mutation_p.P728L|ATP2C1_uc003enp.3_Missense_Mutation_p.P728L|ATP2C1_uc003ent.3_Missense_Mutation_p.P728L|ATP2C1_uc003ens.3_Missense_Mutation_p.P728L|ATP2C1_uc003enu.3_Missense_Mutation_p.P406L	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	728					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTTCCTAATCCTCTCAATGCC	0.358000									Hailey-Hailey disease					50			15		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30486837	30486837	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:30486837C>T	uc002dyi.4	+	3	439	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.S88F|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	88					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTACAGGTTCCAACTATACC	0.527000														70			20		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71358661	71358661	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:71358661G>A	uc011mqa.2	+	5	1263	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	NHSL2_uc004eak.1_Silent_p.G55G|NHSL2_uc010nli.2_Silent_p.G190G	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	421								p.S420S(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTTCCTGTGGGAATTCTTGGG	0.502000														12			17		0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16666131	16666131	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:16666131G>A	uc010xph.2	-	4	852	c.834C>T	c.(832-834)atC>atT	p.I278I	MED26_uc002nee.2_Intron	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	278					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGCTGAAGGCGATAACATTCT	0.557000														105			24		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078196	111078196	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:111078196G>A	uc004epl.1	-	6	2768	c.1849C>T	c.(1849-1851)Ctg>Ttg	p.L617L	TRPC5_uc004epm.1_Silent_p.L617L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	617					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCATGTTCAGCAGCACTACC	0.438000														147			4		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691684	153691685	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:153691684_153691685GG>AA	uc003imy.3	-	1	1293_1294	c.472_473CC>TT	c.(472-474)cct>TTt	p.P158F	TIGD4_uc021xtf.1_Missense_Mutation_p.P158F	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	158					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GACAGTCGAAGGGTCTACTGGT	0.361000														27			16		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723377	48723377	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:48723377G>A	uc001rrm.3	+	0	615	c.303G>A	c.(301-303)agG>agA	p.R101R		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	101					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AAGCGCCCAGGGGGCAGGCCA	0.672000														37			8		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990574	63990574	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:63990574C>T	uc003peh.3	-	3	916	c.882G>A	c.(880-882)agG>agA	p.R294R	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	294					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATTATATTTCCTTGCCACTT	0.418000														28			33		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28752264	28752264	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:28752264G>A	uc002rmb.2	+	6	450	c.406G>A	c.(406-408)Gat>Aat	p.D136N	PLB1_uc010ezj.2_Missense_Mutation_p.D136N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	136	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CATACCCCACGATGGTGCTGA	0.468000														59			4		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281723	103281723	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:103281723C>T	uc002tca.3	+	2	1060	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	306						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCCATAATATCCGAGTGATCG	0.448000														77			16		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531497	150531497	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:150531497G>A	uc009wlw.3	+	15	2846	c.2688G>A	c.(2686-2688)ggG>ggA	p.G896G	ADAMTSL4_uc001eux.3_Silent_p.G873G|ADAMTSL4_uc010pcg.2_Silent_p.G834G|ADAMTSL4_uc009wlx.3_Silent_p.G36G	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	873	TSP type-1 4.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGGGAGTGGGGCAGCCCTCG	0.701000														29			5		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112186239	112186239	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:112186239C>T	uc009zvx.3	+	17	2897	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	ACAD10_uc001tsp.3_Silent_p.I868I|ACAD10_uc001tsq.3_Silent_p.I868I|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	868							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGATAAAAATCATCCGGCCTC	0.567000														92			20		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822207	129822207	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:129822207T>G	uc009zyl.1	-	3	1599	c.1271A>C	c.(1270-1272)gAc>gCc	p.D424A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	424						integral to membrane		p.K423R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCAATCAAGTCCTTTGGGCT	0.612000														152			28		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650776	121650776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:121650776C>T	uc003vjy.3	+	11	2071	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	PTPRZ1_uc011knt.2_Missense_Mutation_p.S559F|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S559F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	559					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGCAGAATCCTTAAATACA	0.433000														41			26		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248684970	248684970	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:248684970C>T	uc001ien.1	+	0	23	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8Y(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACAACAGCTCTGAAAAGGGA	0.418000														118			24		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170629	53170629	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:53170629C>T	uc001sax.3	-	0	501	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	149	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGAAAGCCCCCAGGGCCAA	0.587000														19			3		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378106	18378106	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:18378106G>A	uc010ebn.2	-	2	460	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	KIAA1683_uc002nin.2_Missense_Mutation_p.L82F|KIAA1683_uc010xqe.1_Missense_Mutation_p.L36F	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	82						mitochondrion		p.R81S(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAGCCCGGAGGCGTGGGACG	0.642000														91			25		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533644	92533644	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:92533644G>A	uc001pdj.4	+	8	7482	c.7465G>A	c.(7465-7467)Gct>Act	p.A2489T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2489	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTACTTGGGGCTAACTTGTA	0.507000										TCGA Ovarian(4;0.039)				36			11		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85447645	85447645	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:85447645G>A	uc010rth.2	-	4	871	c.482C>T	c.(481-483)cCg>cTg	p.P161L	SYTL2_uc010rtg.2_Missense_Mutation_p.P162L|SYTL2_uc010rti.2_Missense_Mutation_p.P161L|SYTL2_uc010rtj.2_Missense_Mutation_p.P113L|SYTL2_uc001pbf.4_Missense_Mutation_p.P161L|SYTL2_uc010rtf.2_Missense_Mutation_p.P19L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	161					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCTATTAAACGGATTCTTCCT	0.343000														21			5		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25266340	25266340	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:25266340G>A	uc003xeg.3	+	49	5425	c.5288G>A	c.(5287-5289)aGg>aAg	p.R1763K	DOCK5_uc003xek.3_Intron|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1763						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			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)		AAAGCACAAAGGCCAAAGAGT	0.488000														29			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068001	9068001	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9068001G>A	uc002mkp.3	-	2	19649	c.19445C>T	c.(19444-19446)tCa>tTa	p.S6482L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6484	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTAATTGTGAAAATCCATG	0.493000														85			21		0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768820	31768820	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:31768820C>T	uc002yoa.3	+	0	429	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	139						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCTTCCCTTCCCTGGGCTAT	0.572000														35			7		0	0	1	0	0
C2orf50	130813	broad.mit.edu	37	2	11273482	11273482	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:11273482G>A	uc010yji.1	+	0	304	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	FLJ33534_uc021vdv.1_5'Flank|FLJ33534_uc002rba.2_5'Flank|C2orf50_uc010yjj.1_Missense_Mutation_p.G8R	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA.	8										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCCCACCCCTGGGCTCCAGAG	0.642000														30			6		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092307	30092307	+	RNA	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:30092307C>T	uc010dmc.3	+	0		c.682C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CACCCTCCATCCTTAAGAAAC	0.493000														16			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107170347	107170347	+	RNA	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:107170347G>A	uc021ser.1	-	42		c.2619C>T								Parts of antibodies, mostly variable regions.																		CCACAAAGAGGAACCTCCAGG	0.507000														86			9		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433433	4433433	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:4433433C>T	uc002mal.3	+	12	2670	c.2570C>T	c.(2569-2571)cCc>cTc	p.P857L		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	857	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCGTCCCCTCCACGGGG	0.642000								Chromatin Structure						63			17		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66777374	66777374	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:66777374G>A	uc010bhq.3	+	6	1215	c.740G>A	c.(739-741)tGg>tAg	p.W247*	MAP2K1_uc010ujp.2_Nonsense_Mutation_p.W225*	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	247	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCAGACATCTGGAGCATGGGA	0.547000														147			49		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48240500	48240500	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:48240500C>G	uc001rql.3	-	7	1398	c.997G>C	c.(997-999)Gac>Cac	p.D333H	VDR_uc001rqm.3_Missense_Mutation_p.D283H|VDR_uc001rqn.3_Missense_Mutation_p.D283H|VDR_uc010slq.2_Missense_Mutation_p.D251H	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	283	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGGACATGTCGTCCATGGTG	0.537000														69			15		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89869692	89869692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:89869692G>A	uc002fou.1	-	7	809	c.767C>T	c.(766-768)aCt>aTt	p.T256I	FANCA_uc010vpn.1_Missense_Mutation_p.T256I|FANCA_uc002fov.1_Missense_Mutation_p.T239I|FANCA_uc002fow.1_Missense_Mutation_p.T256I|FANCA_uc002fox.1_Missense_Mutation_p.T256I|FANCA_uc010ciu.1_Missense_Mutation_p.T224I	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	256					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGCTCCACAGTTCTTCTCAG	0.388000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					102			19		0	0	1	0	0
AK124970	0	broad.mit.edu	37	1	224190150	224190150	+	RNA	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:224190150C>T	uc001hog.1	+	0		c.542C>T								Homo sapiens cDNA FLJ42980 fis, clone BRTHA2006735.																		ACTCAAACATCCCTACCATCA	0.348000														18			13		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40889814	40889814	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40889814A>G	uc002onp.3	-	1	983	c.698T>C	c.(697-699)cTg>cCg	p.L233P		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	233	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCTTGGGCAGGCCCTGGGT	0.652000														69			20		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361911	9361911	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9361911C>T	uc002mlb.1	+	0	192	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGCTCATCATCCTGGCTGTCA	0.597000														51			12		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21115400	21115400	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:21115400C>T	uc001iqi.3	-	17	2242	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	615					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTGATTTTTCTTCACTCGTT	0.313000														140			28		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472821	17472821	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:17472821C>T	uc002zlw.3	-	1	528	c.420G>A	c.(418-420)atG>atA	p.M140I	GAB4_uc010gqs.1_Missense_Mutation_p.M140I	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	140	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCCACTCATTCATGTCCTCCC	0.517000														243			53		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965817	43965817	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:43965817G>A	uc002owl.1	-	4	835	c.727C>T	c.(727-729)Cct>Tct	p.P243S	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	243						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGCTCTGGAGGGGGCAGCCGG	0.622000														124			116		0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735236	31735236	+	Splice_Site	SNP	G	A	A	rs144626850		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:31735236G>A	uc003tcl.3	+	3	561	c.235_splice	c.e3+1	p.G79_splice	PPP1R17_uc011kaf.2_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 17 (PPP1R17), transcript variant 1, mRNA.	79					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TTCATACCAGGTAATGGACAA	0.428000														92			23		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34638215	34638215	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:34638215G>A	uc010ucc.2	+	1	461	c.79G>A	c.(79-81)Gag>Aag	p.E27K	NOP10_uc001zie.1_5'Flank|C15orf55_uc010ucd.2_Intron|C15orf55_uc001zif.3_5'UTR	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	0	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCCCAAACCTGAGAGGATGGC	0.542000			T	"""BRD3, BRD4"""	lethal midline carcinoma									74			21		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36490664	36490664	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:36490664C>T	uc002hpz.3	-	7	1728	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGAAGGCCGAGAGCACAG	0.642000														22			4		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463644	76463644	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:76463644G>A	uc003yaq.3	+	4	533	c.263G>A	c.(262-264)aGa>aAa	p.R88K	HNF4G_uc003yar.3_Missense_Mutation_p.R125K	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	88					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAACGTGACAGAATAAGCACC	0.418000														37			8		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64418973	64418973	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:64418973G>A	uc021qkw.1	-	13	3134	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L	NRXN2_uc021qkx.1_Missense_Mutation_p.P851L|NRXN2_uc001oas.3_Missense_Mutation_p.P851L|NRXN2_uc001oaq.3_Missense_Mutation_p.P558L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	891	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTCCATGTAGGGCTGGCCATT	0.572000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			10		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566814	103566814	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:103566814C>T	uc001ymk.3	+	0	334	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	86										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGTTCCGGTCCTTCCGGCAAG	0.652000														25			8		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1275410	1275410	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:1275410G>A	uc001lta.3	+	33	15365	c.15306G>A	c.(15304-15306)atG>atA	p.M5102I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5102	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGTCCTCATGAGAGAGATCC	0.627000														55			9		0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35310360	35310360	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:35310360G>A	uc002hni.3	+	2	709	c.458G>A	c.(457-459)aGt>aAt	p.S153N		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	153	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				AGTGTCCAGAGTATCAGTGAC	0.532000														47			16		0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178385996	178385997	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:178385996_178385997GG>AA	uc002ull.2	+	18	1745	c.1698_splice	c.e18-1	p.R566_splice	AGPS_uc010zfb.1_Splice_Site_p.R476_splice	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	566					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTGTTTTTTAGGGTGACGCAGA	0.391000														51			12		0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58112150	58112150	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:58112150C>T	uc001spj.3	+	10	1563	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	OS9_uc010srx.2_Silent_p.L246L|OS9_uc001spk.3_Silent_p.L452L|OS9_uc001spl.3_Silent_p.L452L|OS9_uc001spm.3_Silent_p.L452L|OS9_uc001spn.3_Silent_p.L453L|OS9_uc010sry.2_Silent_p.L420L|OS9_uc010srz.2_Silent_p.L393L	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	452					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGACCGGCTCCGTTCGGAGG	0.567000														47			11		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179605503	179605503	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:179605503T>C	uc003fki.1	-	3	398	c.268A>G	c.(268-270)Aaa>Gaa	p.K90E	PEX5L_uc011bqd.1_Missense_Mutation_p.K47E|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.K47E|PEX5L_uc003fkj.1_Missense_Mutation_p.K55E|PEX5L_uc010hxd.1_Missense_Mutation_p.K88E|PEX5L_uc011bqg.1_Missense_Mutation_p.K66E|PEX5L_uc011bqh.1_Missense_Mutation_p.K31E	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	90					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTTCCGATTTGGTTTCACAG	0.413000														171			44		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	453640	453640	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:453640C>T	uc003jba.3	+	3	648	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	185					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACCCTCATCCATGGCTACTT	0.617000														48			16		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50156434	50156434	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:50156434G>A	uc002poq.3	+	6	2912	c.2788G>A	c.(2788-2790)Gga>Aga	p.G930R		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	930					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGTCCGCAGTGGAGGTGGCAG	0.617000														5			8		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59445711	59445711	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:59445711C>T	uc002iyv.4	+	23	2603	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L	BCAS3_uc002iyu.4_Silent_p.L817L|BCAS3_uc002iyw.4_Silent_p.L813L|BCAS3_uc002iyy.4_Silent_p.L588L|BCAS3_uc002iyz.4_Silent_p.L386L|BCAS3_uc002iza.4_Silent_p.L371L|BCAS3_uc002izb.4_Non-coding_Transcript|BCAS3_uc002izc.4_Non-coding_Transcript	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	832						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAGCGTGACCCTGCTGGAGGT	0.647000														113			24		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585471	82585471	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82585471T>A	uc003uhx.2	-	4	5087	c.4798A>T	c.(4798-4800)Aaa>Taa	p.K1600*	PCLO_uc003uhv.2_Nonsense_Mutation_p.K1600*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1531					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTTGCCTTTTCCCTTTGTT	0.428000														151			32		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157736713	157736713	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:157736713C>T	uc001fre.2	-	6	1270	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	FCRL2_uc001frd.2_Missense_Mutation_p.G151E|FCRL2_uc010phz.1_Missense_Mutation_p.G404E|FCRL2_uc009wsp.2_Missense_Mutation_p.G120E	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	404					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCAAACAGTCCCCAGAGAAC	0.463000														75			13		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152325478C>T	uc001ezw.4	-	2	4857	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512000														198			87		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267248	1267248	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:1267248G>A	uc001lta.3	+	30	9197	c.9138G>A	c.(9136-9138)agG>agA	p.R3046R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3046	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGTCCAAGGACTGCAACCA	0.617000														96			21		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55250568	55250568	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:55250568G>A	uc001sgk.3	+	2	183	c.115G>A	c.(115-117)Gat>Aat	p.D39N		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	39	Thr-rich.					extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						tcctgctgatgatgaagcccc	0.502000														9			4		0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65439597	65439597	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:65439597G>A	uc003tun.3	-	6	1291	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	GUSB_uc011kdt.2_Missense_Mutation_p.P241L	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	387					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCTGCATAGGGGTAGTGGCT	0.597000														95			20		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409702	80409702	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:80409702G>A	uc003kha.2	+	14	2483	c.2433G>A	c.(2431-2433)gtG>gtA	p.V811V	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	811					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R810H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCCACGCGTGGATCTGTGTA	0.493000														58			20		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24929947	24929947	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:24929947C>T	uc002rfk.3	+	10	1867	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	NCOA1_uc010eye.3_Silent_p.I536I|NCOA1_uc002rfi.3_Silent_p.I385I|NCOA1_uc002rfj.3_Silent_p.I536I|NCOA1_uc002rfl.3_Silent_p.I536I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	536	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCAAACATCCCAGTAACAT	0.428000			T	PAX3	alveolar rhadomyosarcoma									64			13		0	0	1	0	0
SRI	6717	broad.mit.edu	37	7	87848225	87848226	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:87848225_87848226GG>AA	uc010lej.1	-	1	135_136	c.83_84CC>TT	c.(82-84)ccc>cTT	p.P28L	SRI_uc003ujq.1_Missense_Mutation_p.P28L|SRI_uc011khg.1_Missense_Mutation_p.P28L|SRI_uc003ujr.1_Missense_Mutation_p.P13L|SRI_uc011khh.1_Missense_Mutation_p.P13L	NM_003130	NP_003121	P30626	SORCN_HUMAN	Homo sapiens sorcin (SRI), transcript variant 1, mRNA.	28					heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GAGTTTGTCCGGGAAACGCAGG	0.475000														47			12		0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36572546	36572546	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:36572546C>T	uc002xhk.4	+	3	760	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	169										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GGGGAGAACTCCGTCCTGCAT	0.706000														14			4		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52675975	52675975	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52675975A>T	uc003des.2	-	9	1094	c.1082T>A	c.(1081-1083)tTa>tAa	p.L361*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.L361*|PBRM1_uc003der.2_Nonsense_Mutation_p.L329*|PBRM1_uc003det.2_Nonsense_Mutation_p.L361*|PBRM1_uc003deu.2_Nonsense_Mutation_p.L361*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.L361*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.L361*|PBRM1_uc003dey.2_Nonsense_Mutation_p.L361*|PBRM1_uc003dez.1_Nonsense_Mutation_p.L361*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.L259*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	361					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTACCAGCTAAAGCAGCATC	0.388000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									217			47		0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73239173	73239173	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:73239173G>A	uc002jni.2	-	5	538	c.499C>T	c.(499-501)Cct>Tct	p.P167S	GGA3_uc002jnk.2_Missense_Mutation_p.P95S|GGA3_uc002jnj.2_Missense_Mutation_p.P134S|GGA3_uc010wry.2_Missense_Mutation_p.P95S|GGA3_uc010wrw.2_Missense_Mutation_p.P45S|GGA3_uc010wrx.2_Missense_Mutation_p.P45S|GGA3_uc010wrz.2_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	167	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCAAAAACAGGGTTTTTGGGA	0.542000														94			22		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31998230	31998230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:31998230G>A	uc003ale.3	+	15	1970	c.1577G>A	c.(1576-1578)tGg>tAg	p.W526*	SFI1_uc003ald.1_Nonsense_Mutation_p.W502*|SFI1_uc003alf.3_Nonsense_Mutation_p.W495*|SFI1_uc003alg.3_Nonsense_Mutation_p.W444*|SFI1_uc011alp.2_Nonsense_Mutation_p.W444*|SFI1_uc011alq.2_Nonsense_Mutation_p.W471*|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	526					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTTCTCTCTGGAGGCAGAAG	0.418000														71			19		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761937	96761937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:96761937G>A	uc003htr.4	+	0	699	c.636G>A	c.(634-636)tgG>tgA	p.W212*		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	212					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CAGCTTTATGGAAATTACCTT	0.428000														52			14		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857182	210857182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:210857182G>A	uc001hib.2	-	10	2581	c.2411C>T	c.(2410-2412)tCc>tTc	p.S804F	KCNH1_uc001hic.2_Missense_Mutation_p.S777F	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	804					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCCGGAGGTGGAGGCTGCCTG	0.672000														121			13		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					61			28		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100064255	100064255	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:100064255G>A	uc001pga.3	+	14	2248	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	CNTN5_uc009ywv.2_Missense_Mutation_p.E582K|CNTN5_uc001pfz.3_Missense_Mutation_p.E582K|CNTN5_uc021qpb.1_Missense_Mutation_p.E582K|CNTN5_uc021qpc.1_Missense_Mutation_p.E508K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	582	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.T581T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAAAAGAACAGAATTGACAGT	0.343000														19			7		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76920202	76920202	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:76920202G>A	uc004ecp.4	-	10	4107	c.3875C>T	c.(3874-3876)tCa>tTa	p.S1292L	ATRX_uc004ecq.4_Missense_Mutation_p.S1254L|ATRX_uc004eco.4_Missense_Mutation_p.S1077L|ATRX_uc004ecr.2_Missense_Mutation_p.S1224L	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1292					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCATCATCTGAAGATCCATC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							32			12		0	0	1	0	0
RAD1	5810	broad.mit.edu	37	5	34913671	34913671	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:34913671G>A	uc003jix.3	-	2	540	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	RAD1_uc003jiw.3_Intron|RAD1_uc003jiy.3_Nonsense_Mutation_p.Q71*|BRIX1_uc003jiz.3_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.3_5'Flank	NM_002853	NP_002844	O60671	RAD1_HUMAN	Homo sapiens RAD1 homolog (S. pombe) (RAD1), transcript variant 1, mRNA.	71					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAAACTCCTGAAATATTCCA	0.279000								Other conserved DNA damage response genes						25			8		0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797753	49797753	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:49797753C>T	uc002pmz.3	-	7	1521	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	SLC6A16_uc002pna.3_Silent_p.K429K	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	429						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGACAGGGGGCTTGGCATCAG	0.502000														56			28		0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052132	68052132	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:68052132C>T	uc001str.4	+	2	1847	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	DYRK2_uc001sts.4_Missense_Mutation_p.S409F|DYRK2_uc021raa.1_Missense_Mutation_p.S409F	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	482	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGAGGCCGTTCCCGGAGGGGG	0.547000														75			23		0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30207592	30207592	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:30207592C>T	uc002hgr.3	-	11	1050	c.967_splice	c.e11+1	p.E323_splice	UTP6_uc002hgq.3_Splice_Site_p.E139_splice|UTP6_uc010wbw.1_Missense_Mutation_p.G323S	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	323					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TGAAGTTCACCTGTTGGCAGA	0.478000														106			29		0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	836074	836074	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:836074G>A	uc002cka.3	-	4	1049	c.815C>T	c.(814-816)cCc>cTc	p.P272L	RPUSD1_uc002ckb.3_Missense_Mutation_p.P272L|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	272	Pro-rich.				pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GAGTGCGGAGGGGCTGCCTGG	0.731000														34			11		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1563124	1563124	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:1563124G>A	uc001agg.3	+	12	1985	c.1940G>A	c.(1939-1941)aGc>aAc	p.S647N	MIB2_uc001agh.3_Missense_Mutation_p.S633N|MIB2_uc001agi.3_Missense_Mutation_p.S643N|MIB2_uc001agj.3_Missense_Mutation_p.S431N|MIB2_uc001agk.3_Missense_Mutation_p.S582N|MIB2_uc001agl.2_Missense_Mutation_p.S546N|MIB2_uc001agm.3_Missense_Mutation_p.S467N|MIB2_uc010nyq.2_Missense_Mutation_p.S546N|MIB2_uc009vkh.3_Missense_Mutation_p.S396N|MIB2_uc001agn.3_Missense_Mutation_p.S222N|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	590					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCACCCAGAGCACAGCACTG	0.682000														18			6		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924695	105924695	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:105924695C>T	uc001pja.3	-	3	1361	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	KBTBD3_uc001pjb.3_Missense_Mutation_p.V241M|KBTBD3_uc009yxm.3_Missense_Mutation_p.V162M	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	237	BACK.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TGTAATCTCACTTTTTCAATC	0.358000														49			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482058	17482058	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:17482058C>T	uc001mnc.3	-	5	1114	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ABCC8_uc010rcy.1_Missense_Mutation_p.E329K	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	330	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.E330K(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACGTCGTTCTCCTTCCCAAGG	0.592000														126			37		0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150795679	150795679	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:150795679G>A	uc001evr.2	-	13	1586	c.1385C>T	c.(1384-1386)aCc>aTc	p.T462I	ARNT_uc001evs.2_Missense_Mutation_p.T447I|ARNT_uc009wmd.2_Missense_Mutation_p.T447I|ARNT_uc009wmb.2_Missense_Mutation_p.T448I|ARNT_uc009wmc.2_Missense_Mutation_p.T462I|ARNT_uc009wme.2_Intron|ARNT_uc010pcl.2_Missense_Mutation_p.T446I	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	462	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTCACATTGGTGTTGGTACA	0.408000			T	ETV6	AML									66			37		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230998	2230998	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:2230998G>A	uc010bsg.1	-	17	2403	c.2371C>T	c.(2371-2373)Ctt>Ttt	p.L791F		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	791	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTCCCCCAAGGGCCTGGGGA	0.711000														20			5		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91662738	91662738	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:91662738C>T	uc001xyw.2	+	9	1567	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	C14orf159_uc001xyy.2_Silent_p.I405I|C14orf159_uc001xyz.2_Silent_p.I276I|C14orf159_uc001xzb.2_Silent_p.I400I|C14orf159_uc001xyx.2_Silent_p.I388I|C14orf159_uc001xzc.2_Silent_p.I400I|C14orf159_uc001xza.2_Silent_p.I405I|C14orf159_uc001xyv.2_Silent_p.I405I|C14orf159_uc001xze.2_Silent_p.I400I	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	400						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGACGCAGATCCCGATATTAA	0.478000														31			6		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000														77			5		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24321470	24321470	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:24321470C>T	uc003xeb.3	+	3	422	c.309C>T	c.(307-309)atC>atT	p.I103I	ADAM7_uc003xea.1_Silent_p.I103I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	103					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATCCTCAGATCATGGTATCTT	0.423000														44			15		0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166261466	166261466	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:166261466C>T	uc003ire.3	+	4	755	c.625C>T	c.(625-627)Cat>Tat	p.H209Y	MSMO1_uc010irb.3_Missense_Mutation_p.H209Y|MSMO1_uc003irf.3_Missense_Mutation_p.H78Y	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	209					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.H209Y(1)								NADH(DB00157)	TTTGTGTGATCATGTAATTCT	0.368000														62			12		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804281	27804281	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:27804281C>T	uc002rkz.4	+	0	4893	c.4842C>T	c.(4840-4842)caC>caT	p.H1614H	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1614	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGAAATCACTGCAGTCCCC	0.562000														99			22		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970297	118970297	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:118970297G>A	uc003ksm.2	+	2	1064	c.854G>A	c.(853-855)gGa>gAa	p.G285E	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.G285E|FAM170A_uc003kso.3_Missense_Mutation_p.G238E	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	285	Glu-rich.					intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						gaggaaaatggaaatgagaag	0.537000														89			28		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72128987	72128987	+	Silent	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:72128987A>G	uc003xyu.3	-	13	1940	c.1300T>C	c.(1300-1302)Ttg>Ctg	p.L434L	EYA1_uc003xyt.4_Silent_p.L401L|EYA1_uc003xyr.4_Silent_p.L399L|EYA1_uc010lzf.3_Silent_p.L361L|EYA1_uc003xys.4_Silent_p.L434L|EYA1_uc011lfe.2_Silent_p.L428L|EYA1_uc003xyv.3_Silent_p.L312L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	434					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CGGAAGGCCAACTTTCTCATC	0.463000														74			20		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36616188	36616188	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:36616188G>A	uc022abu.1	-	12	1414	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	AOAH_uc003tfh.4_Missense_Mutation_p.S338L|AOAH_uc011kba.2_Missense_Mutation_p.S306L	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	338					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACCATTTCTTGAAATATTCTG	0.299000														105			16		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228553833	228553833	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:228553833C>T	uc009xez.1	+	82	19166	c.19122C>T	c.(19120-19122)gcC>gcT	p.A6374A	OBSCN_uc001hsr.1_Silent_p.A1003A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6374	Ig-like 54.				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.E6374*(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)				GCGGAACGGCCCAATTCGAGG	0.637000														78			19		0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370212	1370212	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:1370212C>T	uc002clc.2	+	4	391	c.261C>T	c.(259-261)taC>taT	p.Y87Y	UBE2I_uc002cld.2_Silent_p.Y87Y|UBE2I_uc002clf.2_Silent_p.Y87Y|UBE2I_uc002clg.2_Silent_p.Y87Y|UBE2I_uc002clh.1_Silent_p.Y87Y|UBE2I_uc002cli.1_Silent_p.Y87Y	NM_194261	NP_919237	P63279	UBC9_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2I (UBE2I), transcript variant 4, mRNA.	87				VYPS -> GVPF (in Ref. 6; AAC50603).	cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	PML body|cytoplasm|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CGAATGTGTACCCTTCGGGGA	0.552000														48			8		0	0	1	0	0
EPB49	2039	broad.mit.edu	37	8	21938871	21938871	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:21938871C>T	uc022asw.1	+	14	1153	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_Missense_Mutation_p.S350F|EPB49_uc022asy.1_Missense_Mutation_p.S325F	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	372	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AGGCATCTGTCTGCCGAGGAC	0.577000														76			16		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065285	40065285	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:40065285G>C	uc002hyg.3	-	5	736	c.573C>G	c.(571-573)ttC>ttG	p.F191L	ACLY_uc002hyh.3_Missense_Mutation_p.F191L|ACLY_uc002hyi.3_Missense_Mutation_p.F245L|ACLY_uc010wfx.2_Missense_Mutation_p.F245L|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	191					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGTCCTCGTAGAAATTGAAGA	0.567000														32			4		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965272	6965272	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:6965272C>T	uc001qri.4	+	3	455	c.396C>T	c.(394-396)gcC>gcT	p.A132A	USP5_uc001qrh.4_Silent_p.A132A	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	132					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGGAGATTGCCCGGGATGGAC	0.512000														122			31		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21789532	21789532	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:21789532C>G	uc001wag.3	+	11	1582	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V	RPGRIP1_uc001wah.3_Missense_Mutation_p.L170V|RPGRIP1_uc001wai.3_Missense_Mutation_p.L170V|RPGRIP1_uc001waj.1_Missense_Mutation_p.L4V|RPGRIP1_uc001wak.3_Missense_Mutation_p.L4V|RPGRIP1_uc010aim.3_5'UTR|RPGRIP1_uc001wal.3_5'Flank|RPGRIP1_uc001wam.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	528					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATGCTTATTCTGCAGCGCAA	0.463000														41			17		0	0	1	0	0
WDR67	93594	broad.mit.edu	37	8	124096405	124096406	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:124096405_124096406CC>TT	uc003ypp.2	+	3	434_435	c.344_345CC>TT	c.(343-345)acc>aTT	p.T115I	WDR67_uc011lig.2_Missense_Mutation_p.T115I|WDR67_uc011lih.2_Missense_Mutation_p.T5I|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Missense_Mutation_p.T115I	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	115						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCACAGTCACCAAGGAGCTAG	0.396000														104			32		0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928607	58928607	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:58928607C>T	uc002qsp.3	+	3	1174	c.722C>T	c.(721-723)cCt>cTt	p.P241L	ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGCATAAAACCTTTTAAGTGT	0.468000														18			21		0	0	1	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3937266	3937267	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:3937266_3937267AC>TT	uc010xia.2	+	2	375_376	c.161_162AC>TT	c.(160-162)gac>gTT	p.D54V	ITGB1BP3_uc002lyz.4_Missense_Mutation_p.D49V	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	49					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGGGGAAGACGGCTTCAAAC	0.629000														26			7		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098263	144098263	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:144098263C>T	uc022aoj.1	-	3	720	c.720G>A	c.(718-720)ggG>ggA	p.G240G		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	240					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGTGGCAGGGCCCCCGGCCTG	0.597000														29			8		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487688	63487688	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:63487688C>T	uc001nxq.3	+	2	1901	c.1714C>T	c.(1714-1716)Ctt>Ttt	p.L572F	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.L460F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.L553F|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	572					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCCTGATATTCTTGGAAGGAG	0.413000														77			21		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42647465	42647465	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:42647465C>T	uc011dur.2	+	41	4911	c.4613C>T	c.(4612-4614)cCt>cTt	p.P1538L	UBR2_uc011dus.2_Missense_Mutation_p.P1183L|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Missense_Mutation_p.P126L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1538					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTGCAGTTCCTGGAACAAGC	0.333000														34			6		0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228564173	228564173	+	Silent	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:228564173T>C	uc002vpi.3	-	2	347	c.258A>G	c.(256-258)caA>caG	p.Q86Q	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.Q82Q	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	86					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AACTGATACCTTGCAAGATGA	0.512000														146			49		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78938185	78938185	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:78938185G>A	uc004akc.2	+	30	4777	c.4239G>A	c.(4237-4239)aaG>aaA	p.K1413K		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	662					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATTATGAAAAGGAGACTAAGG	0.537000														24			9		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217904	150217904	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:150217904G>A	uc003whk.3	+	1	972	c.842G>A	c.(841-843)tGg>tAg	p.W281*	GIMAP7_uc022apu.1_Nonsense_Mutation_p.W281*	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	281							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATAGGATTTGGAAGATGCTT	0.234000														36			15		0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018643	88018643	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:88018643G>A	uc003kjl.3	-	11	1659	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	MEF2C_uc021ybg.1_Silent_p.D320D|MEF2C_uc021ybh.1_Silent_p.D344D|MEF2C_uc003kji.2_Silent_p.D392D|MEF2C_uc003kjj.3_Silent_p.D400D|MEF2C_uc003kjk.3_Silent_p.D400D|MEF2C_uc003kjm.3_Silent_p.D390D	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	400					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGTGGTACGGTCTCTAGGAG	0.527000										HNSCC(66;0.2)				31			8		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736405	7736405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:7736405G>A	uc002giu.1	+	83	13009	c.12995G>A	c.(12994-12996)cGg>cAg	p.R4332Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4332					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)				GTCTGGGTCCGGGGCCTGTAC	0.607000														49			11		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43429979	43429979	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:43429979G>A	uc002ovl.4	-	5	1288	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.R275C	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	397	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.468000														155			116		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4685642	4685642	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:4685642G>A	uc002mba.3	-	16	2285	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	LOC100131094_uc021ung.1_3'UTR	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	647					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACTCACCTGGGGGCCTCCATA	0.627000														12			5		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98111142	98111142	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:98111142T>A	uc001kmj.3	-	2	504	c.65A>T	c.(64-66)aAa>aTa	p.K22I	OPALIN_uc010qor.2_Missense_Mutation_p.K12I|OPALIN_uc001kmi.3_Missense_Mutation_p.K12I|OPALIN_uc001kmk.3_Intron|OPALIN_uc010qos.2_Intron	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	22						Golgi apparatus|integral to membrane|plasma membrane		p.G21W(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TACCGTTTCTTTCCCACCTGT	0.323000														36			16		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207572096	207572096	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:207572096C>T	uc002vbr.1	-	2	343	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	76						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCTGGGTTTTCCTCCCTGGCC	0.557000														22			3		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86575269	86575269	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:86575269G>A	uc022axf.1	-	0	458	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	153						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						TTGGGGCTCCGCCTGGATGTC	0.652000														22			4		0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36908515	36908515	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:36908515G>A	uc003apr.3	-	12	1506	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	EIF3D_uc011amr.2_Silent_p.L274L|EIF3D_uc011amt.2_Silent_p.L398L|EIF3D_uc011ams.2_Silent_p.L350L	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	447						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCCAAGCTTGAGGTACTCAG	0.572000														95			26		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66620010	66620010	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:66620010C>T	uc001ojn.1	-	12	1774	c.1725G>A	c.(1723-1725)caG>caA	p.Q575Q	PC_uc001ojo.1_Silent_p.Q575Q|PC_uc001ojp.1_Silent_p.Q575Q	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	575	Carboxyltransferase.|Substrate binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCAGCAGTGACTGGTGGGCGT	0.612000														64			21		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164785182	164785182	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:164785182A>G	uc003fei.3	-	5	644	c.581T>C	c.(580-582)gTt>gCt	p.V194A		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	194	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTTTGGGCAACCTTCACATC	0.308000										HNSCC(35;0.089)				46			13		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61466797	61466797	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:61466797C>T	uc002jal.4	+	14	2744	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	TANC2_uc010wpe.2_Silent_p.F817F|TANC2_uc002jan.1_Silent_p.F58F|TANC2_uc002jao.4_Silent_p.F8F|TANC2_uc002jam.1_Silent_p.F274F	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	907							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCTGGAGTTCGGGGCCAACG	0.498000														31			13		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177605183	177605183	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:177605183C>T	uc003ius.1	-	6	1587	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	386					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CGTACATGGCCGTCTGTAACA	0.408000														46			11		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010799	78010799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:78010799C>T	uc022bzj.1	+	0	433	c.433C>T	c.(433-435)Cga>Tga	p.R145*	LPAR4_uc010nme.3_Nonsense_Mutation_p.R145*	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	145						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTATCCTTTTCGATCTCGTAC	0.463000														35			18		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976381	121976381	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:121976381G>A	uc004bkc.2	-	5	1194	c.738C>T	c.(736-738)gcC>gcT	p.A246A	DBC1_uc004bkd.2_Silent_p.A246A	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	246	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TATAGCTCAAGGCCGACTGGA	0.488000														42			11		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74364955	74364955	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:74364955G>A	uc003hhb.3	+	10	1445	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	472	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCTGTGTTGATAATTTGGT	0.388000														26			8		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244167	8244168	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:8244167_8244168GG>AA	uc002knn.4	+	14	2915_2916	c.2412_2413GG>AA	c.(2410-2415)gaggct>gaAAct	p.A805T	PTPRM_uc010dkv.3_Missense_Mutation_p.A805T|PTPRM_uc010wzl.2_Missense_Mutation_p.A592T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	805					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTGCGACGAGGCTTTCTCATT	0.485000														55			17		0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18579815	18579815	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:18579815G>A	uc001mot.3	-	6	755	c.675C>T	c.(673-675)gaC>gaT	p.D225D	UEVLD_uc001mou.3_Silent_p.D225D|UEVLD_uc010rde.2_Silent_p.D95D|UEVLD_uc010rdf.2_Silent_p.D203D|UEVLD_uc010rdg.2_Silent_p.D95D|UEVLD_uc001mov.3_Silent_p.D203D	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	225					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGATTTCAAGGTCCATCGTGG	0.413000														56			13		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654990	99654990	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:99654990G>C	uc003uso.3	+	1	505	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	ZSCAN21_uc011kje.1_Missense_Mutation_p.E120Q|ZSCAN21_uc003usn.1_Missense_Mutation_p.E120Q	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	121	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTCTCCTCGAAGATCTGGA	0.577000														35			11		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119170216	119170216	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:119170216G>A	uc001pwe.3	+	15	2584	c.2446G>A	c.(2446-2448)Ggt>Agt	p.G816S		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	816	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGTCACTGAAGGTTCCCAAGT	0.438000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					82			16		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748530	43748530	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:43748530G>A	uc001zrs.3	-	11	2409	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	TP53BP1_uc010udp.2_Missense_Mutation_p.S754F|TP53BP1_uc001zrq.4_Missense_Mutation_p.S759F|TP53BP1_uc001zrr.4_Missense_Mutation_p.S759F|TP53BP1_uc010udq.1_Missense_Mutation_p.S759F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	754					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GACAACACTGGAGTCCTCTGA	0.443000								Other conserved DNA damage response genes						73			21		0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102196011	102196011	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:102196011C>T	uc001pgx.3	+	1	3566	c.771C>T	c.(769-771)gcC>gcT	p.A257A		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	257					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CACATGCAGCCCGCTTTAAAA	0.408000			T	MALT1	MALT									53			8		0	0	1	0	0
C2orf27B	408029	broad.mit.edu	37	2	132558489	132558489	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:132558489C>T	uc002ttg.1	-	1	515	c.22G>A	c.(22-24)Gga>Aga	p.G8R		NM_214461	NP_999626	Q580R0	CB027_HUMAN	Homo sapiens chromosome 2 open reading frame 27B (C2orf27B), mRNA.	0										NS(1)	1						CCCTGCTCTCCACTCTCAGGC	0.587000														81			25		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	951687	951687	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:951687C>T	uc003gbq.3	+	10	1016	c.918C>T	c.(916-918)acC>acT	p.T306T	TMEM175_uc003gbs.3_Silent_p.T189T|TMEM175_uc003gbt.3_Silent_p.T189T|TMEM175_uc003gbr.3_Silent_p.T224T	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	306						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGAGTGCGACCGGGCCGCGCT	0.627000														91			16		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358927	178358927	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:178358927G>A	uc003mjn.1	+	4	1122	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ZFP2_uc010jky.2_Missense_Mutation_p.E205K|ZFP2_uc010jkx.1_Missense_Mutation_p.E205K|ZFP2_uc021yjb.1_Missense_Mutation_p.E205K	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TATTCAGCATGAAAGGATTCA	0.398000														40			11		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118746	118746	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrGL000209.1:118746G>A	uc010yie.2	+	2	234	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.E72K|KIR2DL2_uc002qum.3_Missense_Mutation_p.E75K	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	75	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCTCATTGGAGAACACCATGA	0.502000														58			71		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396842	220396842	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:220396842G>A	uc002vlz.3	+	2	1402	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	ASIC4_uc010fwi.2_Missense_Mutation_p.E410K|ASIC4_uc010fwj.2_Missense_Mutation_p.E410K|ASIC4_uc002vly.2_Missense_Mutation_p.E410K|ASIC4_uc002vma.3_Missense_Mutation_p.E410K|ASIC4_uc002vmb.3_Missense_Mutation_p.E64K	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	410						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.E410K(1)									GTCCTGCCAGGAACAGCGGGT	0.622000														89			17		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045759	47045759	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:47045759T>C	uc003cqp.3	+	36	6253	c.6074T>C	c.(6073-6075)aTc>aCc	p.I2025T	NBEAL2_uc010hjm.2_Missense_Mutation_p.I1402T|NBEAL2_uc010hjn.2_Missense_Mutation_p.I421T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2025							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGCCCCATCCCACCCCAT	0.617000														176			41		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121357652	121357652	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:121357652C>T	uc003yox.3	+	44	5192	c.4927C>T	c.(4927-4929)Ccc>Tcc	p.P1643S	COL14A1_uc003yoz.3_Missense_Mutation_p.P608S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1643					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAACCAGATTCCCAGCCACTC	0.582000														82			21		0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65617484	65617484	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:65617484G>T	uc001ofr.3	+	2	362	c.235G>T	c.(235-237)Gag>Tag	p.E79*	SNX32_uc009yqt.3_3'UTR|SNX32_uc010rop.1_Nonsense_Mutation_p.E79*	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	79	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGAGAATGAGGAGTACGCCGG	0.632000														31			10		6.42651e-13	6.51823e-13	1	1	0
SPTLC3	55304	broad.mit.edu	37	20	13090785	13090785	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:13090785A>G	uc002wod.1	+	6	1142	c.853A>G	c.(853-855)Aga>Gga	p.R285G		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	285					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GAAGCTCCTGAGAGATGCTGT	0.408000														44			14		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66087096	66087096	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:66087096C>T	uc001dci.3	+	17	2941	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	LEPR_uc001dcg.3_Missense_Mutation_p.S851F|LEPR_uc001dch.3_Missense_Mutation_p.S851F|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.S851F|LEPR_uc001dcj.3_Missense_Mutation_p.S851F|LEPR_uc001dck.3_Missense_Mutation_p.S851F	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	851					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTAATTATTTCCTCTTCCATC	0.328000														23			8		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54923082	54923082	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:54923082C>T	uc002iur.3	+	3	836	c.656C>T	c.(655-657)cCa>cTa	p.P219L	DGKE_uc002ius.1_Missense_Mutation_p.P219L	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	219	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CAGTGGACCCCATTAATAATC	0.398000														59			12		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408203	30408203	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:30408203G>A	uc002wwq.2	+	2	429	c.327G>A	c.(325-327)aaG>aaA	p.K109K		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	109					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCGTCAAGAAGCCCAAGG	0.697000														38			9		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234580994	234580994	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:234580994G>A	uc002vus.3	+	0	451	c.414G>A	c.(412-414)aaG>aaA	p.K138K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Silent_p.K138K	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	141					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AATACTTAAAGGAGAGTTCTT	0.348000														83			10		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166963247	166963247	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:166963247C>T	uc003irh.2	+	10	1977	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	TLL1_uc011cjn.2_Missense_Mutation_p.R444C|TLL1_uc011cjo.2_Missense_Mutation_p.R268C	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	444	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R444C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATTGAGTTTCGTAGCAGCAG	0.368000														81			22		0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79615126	79615127	+	Silent	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:79615126_79615127CC>TT	uc010die.3	+	3	970_971	c.864_865CC>TT	c.(862-867)aacctg>aaTTtg	p.288_289NL>NL	TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	290						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCGCGCGAACCTGGCTGCCTC	0.752000														12			4		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963897	73963897	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:73963897C>T	uc004eby.3	-	2	1112	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	165					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.L165V(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						CACCAACTTTCAGACTGATCC	0.453000														20			21		0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128355670	128355670	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:128355670C>T	uc003vno.1	+	0	228	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Missense_Mutation_p.L59F	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	59										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGAGGGACTGCTCTGCCGGGT	0.547000														69			32		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035682	17035682	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:17035682C>T	uc010rcu.1	-	1	168	c.153G>A	c.(151-153)atG>atA	p.M51I	PLEKHA7_uc001mmo.3_Missense_Mutation_p.M51I	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	51					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTGAGCGGATCATGTGGCCCG	0.726000														17			5		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380100	147380100	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:147380100C>T	uc021ovm.1	+	0	18	c.18C>T	c.(16-18)ttC>ttT	p.F6F	GJA8_uc001epu.2_Silent_p.F6F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	6					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ACTGGAGTTTCCTGGGGAACA	0.537000														170			31		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200948729	200948729	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:200948729G>A	uc001gvs.2	-	29	4411	c.4094C>T	c.(4093-4095)tCc>tTc	p.S1365F	KIF21B_uc009wzl.2_Missense_Mutation_p.S1365F|KIF21B_uc001gvr.2_Missense_Mutation_p.S1352F|KIF21B_uc010ppn.2_Missense_Mutation_p.S1352F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1365					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGGACACGGAGAACACAAG	0.582000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		193			38		0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100425195	100425195	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:100425195G>A	uc001vok.3	+	1	211	c.180G>A	c.(178-180)aaG>aaA	p.K60K	CLYBL_uc010tix.2_Silent_p.K60K|CLYBL_uc010tiy.2_Silent_p.K60K	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	60					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAAATAAAGAAGATTCCAT	0.423000														66			26		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62599268	62599268	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:62599268G>A	uc002yhl.1	-	1	90	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L12L(2)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGACCCCGGGAGCCGACGGC	0.597000														74			17		0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297289	144297289	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:144297289G>A	uc003yxu.2	+	3	526	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	151					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGACCCAACAGGCAAGGGGGC	0.677000														59			17		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75587134	75587134	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:75587134G>C	uc003kei.1	+	6	1360	c.1226G>C	c.(1225-1227)cGg>cCg	p.R409P		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	409					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R409L(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGTTTTGTTCGGATCCGCACC	0.413000														30			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418389	179418389	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179418389C>T	uc021vsy.1	-	282	81864	c.81639G>A	c.(81637-81639)tgG>tgA	p.W27213*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W20908*|TTN_uc021vta.1_Nonsense_Mutation_p.W20841*|TTN_uc021vtb.1_Nonsense_Mutation_p.W20716*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28140	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACAGTAGTCCATTCCTCTT	0.468000														59			8		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9610104	9610104	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:9610104G>A	uc003wss.3	+	19	3126	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	TNKS_uc011kww.2_Missense_Mutation_p.E804K	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1041	SAM.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCTTGGCCTTGAACACCTTCG	0.323000														70			14		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71150108	71150108	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:71150108A>T	uc001oqk.3	-	6	898	c.648T>A	c.(646-648)ttT>ttA	p.F216L	DHCR7_uc001oql.3_Missense_Mutation_p.F216L	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	216					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	TGTAGTTGTAAAAGAAATTGC	0.448000									Smith-Lemli-Opitz syndrome					28			5		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944728	112944728	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:112944728C>T	uc002tho.1	+	7	1236	c.965C>T	c.(964-966)cCc>cTc	p.P322L	FBLN7_uc010fki.1_Missense_Mutation_p.P276L|FBLN7_uc010fkj.1_Missense_Mutation_p.P188L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	322					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAGCGGAACCCCTGCCCCATG	0.617000														58			9		0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130191122	130191122	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:130191122C>T	uc004bqw.4	+	1	442	c.28C>T	c.(28-30)Cca>Tca	p.P10S	ZNF79_uc011maf.2_5'UTR|ZNF79_uc011mag.2_5'UTR	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						ACTGCCTTCCCCAGGCCCTGC	0.478000														12			5		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101074939	101074939	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:101074939C>T	uc003yjb.1	-	8	1589	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	RGS22_uc003yja.1_Missense_Mutation_p.G284E|RGS22_uc003yjc.1_Missense_Mutation_p.G453E|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.G369E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	465					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTAGTAATCTCCATTGCTCAC	0.313000														24			3		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169022	110169022	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:110169022C>T	uc009wfh.1	+	5	1208	c.666C>T	c.(664-666)gtC>gtT	p.V222V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.V141V|AMPD2_uc001dyc.1_Silent_p.V222V|AMPD2_uc010ovr.1_Silent_p.V147V|AMPD2_uc010ovs.1_Silent_p.V104V|AMPD2_uc001dyd.1_Silent_p.V103V|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	222					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCAGCGGGTCACCATCTCTG	0.597000														24			6		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764424	82764424	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82764424G>A	uc003uhx.2	-	2	2731	c.2442C>T	c.(2440-2442)agC>agT	p.S814S	PCLO_uc003uhv.2_Silent_p.S814S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	760	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATCAAATGGGCTGACTTTTT	0.438000														114			58		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17152941	17152941	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:17152941G>A	uc001ioo.3	-	8	1044	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	331	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGGCAGTGGGAAGACCCAGG	0.512000														88			34		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775619	47775619	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:47775619C>T	uc022bvq.1	+	4	1823	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	ZNF81_uc010nhy.2_Missense_Mutation_p.S525F	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	525						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGAGAAAAGTCTTATATATGT	0.423000														25			20		0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224463014	224463014	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:224463014C>T	uc021vxk.1	-	0	987	c.987G>A	c.(985-987)ggG>ggA	p.G329G	SCG2_uc002vnm.3_Silent_p.G329G	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	329					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCCATTTTGCCCATTCTGTA	0.418000														158			5		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210698	15210698	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:15210698C>T	uc002wou.3	+	5	795	c.531C>T	c.(529-531)atC>atT	p.I177I	MACROD2_uc002wot.3_Silent_p.I177I|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	177	Macro.							p.E177K(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATAACATCCGATCAGTTG	0.363000														15			4		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123540248	123540248	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:123540248C>T	uc010nqy.3	-	25	5138	c.5074G>A	c.(5074-5076)Gag>Aag	p.E1692K	ODZ1_uc011muj.2_Missense_Mutation_p.E1691K|ODZ1_uc004euj.3_Missense_Mutation_p.E1685K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1685					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GTATCTAGCTCCACTTTTGTC	0.458000														63			34		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933935	73933935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:73933935C>T	uc003uaq.3	+	5	1195	c.802C>T	c.(802-804)Cga>Tga	p.R268*	GTF2IRD1_uc010lbq.3_Nonsense_Mutation_p.R300*|GTF2IRD1_uc003uap.3_Nonsense_Mutation_p.R268*|GTF2IRD1_uc003uar.1_Nonsense_Mutation_p.R268*	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	268						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCACGCCATCCGAGAGCTCAA	0.687000														55			16		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658698	146658698	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:146658698T>G	uc001epi.2	-	8	1772	c.1383A>C	c.(1381-1383)ttA>ttC	p.L461F	FMO5_uc001eph.4_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	461						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTAATAAGTGTAATGCCAGCT	0.527000														60			16		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334044	37334044	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:37334044C>T	uc003aqa.4	+	13	2411	c.2194C>T	c.(2194-2196)Ccc>Tcc	p.P732S	CSF2RB_uc003aqc.4_Missense_Mutation_p.P738S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	732					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTCCCTAGTTCCCTCTCTGGG	0.627000														78			21		0	0	1	0	0
CCNI2	645121	broad.mit.edu	37	5	132087641	132087641	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:132087641A>G	uc011cxg.1	+	4	857	c.806A>G	c.(805-807)aAa>aGa	p.K269R	CCNI2_uc011cxh.1_Intron|CCNI2_uc003kxq.1_Intron|SEPT8_uc003kxr.2_3'UTR	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	Homo sapiens cyclin I family, member 2 (CCNI2), mRNA.	258					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTAACATTAAAAACCATGGT	0.468000														11			3		0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69752310	69752310	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:69752310C>T	uc002exp.3	-	1	326	c.135G>A	c.(133-135)atG>atA	p.M45I	NQO1_uc002exq.3_Missense_Mutation_p.M45I|NQO1_uc002exr.3_Missense_Mutation_p.M45I|NQO1_uc010vll.2_Missense_Mutation_p.M45I	NM_000903	NP_000894	P15559	NQO1_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 1 (NQO1), transcript variant 1, mRNA.	45					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	NAD(P)H dehydrogenase (quinone) activity|coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GATTGAAGTTCATGGCATAGA	0.512000														84			18		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78927802	78927802	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:78927802G>A	uc002bed.1	-	1	295	c.183C>T	c.(181-183)tcC>tcT	p.S61S	CHRNB4_uc002bee.1_Silent_p.S61S|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	61					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GCTGGGCCAGGGAGAGCTGCA	0.577000														103			22		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66878979	66878979	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:66878979C>T	uc001vik.3	-	4	4214	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Silent_p.V1140V|PCDH9_uc010thl.2_Silent_p.V1132V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1174					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGCCCATTCACAAGCTTGT	0.498000														45			23		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174302	207174302	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:207174302C>T	uc002vbp.2	+	4	5300	c.5050C>T	c.(5050-5052)Cac>Tac	p.H1684Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1684							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						GCAGAAAGCTCACAAAGAAGC	0.423000														67			9		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104390554	104390554	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:104390554C>T	uc004bbp.2	-	3	3083	c.2482G>A	c.(2482-2484)Gga>Aga	p.G828R	GRIN3A_uc004bbq.1_Missense_Mutation_p.G828R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	828					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TACTCCACTCCATCAGGGGTG	0.413000														19			19		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377696	125377696	+	Missense_Mutation	SNP	G	A	A	rs138056123		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:125377696G>A	uc011lyy.2	+	0	680	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GTGGTCCTCCGGATCCCCTCA	0.537000														65			28		0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991202	82991202	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:82991202G>A	uc001pae.3	-	1	564	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Nonsense_Mutation_p.Q59*	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	68						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCCAAGTCCTGAACCAATGCA	0.383000														50			17		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266790	48266791	+	Missense_Mutation	DNP	CC	TT	TT	rs72653154		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:48266790_48266791CC>TT	uc002iqm.3	-	38	2902_2903	c.2776_2777GG>AA	c.(2776-2778)ggt>AAt	p.G926N		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	926	Triple-helical region.		G -> C (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCAGGGGGACCAGGGGGACCA	0.649000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							108			19		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577539	162577539	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:162577539G>A	uc003iqh.3	-	6	1271	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	FSTL5_uc003iqi.3_Missense_Mutation_p.P278S|FSTL5_uc010iqv.3_Missense_Mutation_p.P278S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	279	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGATAATGGGAGGTCTCAGG	0.368000														41			15		0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755113	56755113	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:56755113G>A	uc001sle.1	-	1	931	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	293					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						AAAGAAGCCAGAGTAGTTGTT	0.483000														56			11		0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2139170	2139170	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:2139170G>A	uc004cqf.4	-	6	954	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	302							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GACGTGGAGGGACTTGGTCTC	0.532000														76			23		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155014007	155014007	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:155014007G>A	uc001fgn.2	+	6	780	c.666G>A	c.(664-666)agG>agA	p.R222R	DCST1_uc010per.2_Silent_p.R247R|DCST1_uc010pes.2_Silent_p.R197R	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	222						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCAGGGCAGGGAGGCCCGCC	0.602000														62			41		0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1572332	1572332	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:1572332G>A	uc001agv.1	-	16	1804	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	CDK11B_uc009vkj.2_Missense_Mutation_p.S233F|CDK11B_uc001ags.1_Missense_Mutation_p.S434F|CDK11B_uc001agt.1_Missense_Mutation_p.S359F|CDK11B_uc001aha.1_Missense_Mutation_p.S540F|CDK11B_uc001agw.1_Missense_Mutation_p.S524F|CDK11B_uc001agy.1_Missense_Mutation_p.S567F|CDK11B_uc001agx.1_Missense_Mutation_p.S558F|CDK11B_uc001agz.1_Missense_Mutation_p.S320F	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	589	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTTCAGAGGGGATCCGTACTC	0.682000														48			14		0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74061780	74061780	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:74061780G>A	uc001xoo.3	+	2	942	c.688G>A	c.(688-690)Ggc>Agc	p.G230S		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	230					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGGGCTTTTGGGCATTTCTCT	0.463000														102			24		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169060731	169060731	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:169060731G>A	uc003irm.3	+	3	359	c.195_splice	c.e3+1	p.R65_splice		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	65							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TGTATGGCCGGGTAAGGCCAC	0.428000														27			13		0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038030	67038030	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:67038030C>T	uc002eqv.3	+	8	1167	c.1052C>T	c.(1051-1053)cCa>cTa	p.P351L	CES4A_uc010vix.2_Missense_Mutation_p.P328L|CES4A_uc002eqw.3_Missense_Mutation_p.P328L|CES4A_uc010viy.2_Missense_Mutation_p.P234L|CES4A_uc002eqx.3_Missense_Mutation_p.P134L|CES4A_uc002eqy.3_Missense_Mutation_p.P230L	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	328						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GTGGTGATCCCAGATGACCCT	0.522000														123			39		0	0	1	0	0
FAM131C	348487	broad.mit.edu	37	1	16388595	16388595	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:16388595C>T	uc001axz.4	-	4	458	c.268_splice	c.e4+1	p.G90_splice		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	90										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGAACCTACCCACAAGGGACG	0.637000														38			11		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66713311	66713311	+	Silent	SNP	G	A	A	rs143872916		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:66713311G>A	uc001dcn.3	+	3	641	c.450G>A	c.(448-450)tcG>tcA	p.S150S	PDE4B_uc009war.3_Silent_p.S58S|PDE4B_uc001dco.3_Silent_p.S150S|PDE4B_uc001dcp.3_Silent_p.S135S	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	150					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AGGCGATGTCGAGAAACTCTT	0.507000														67			17		0	0	1	0	0
ASPDH	554235	broad.mit.edu	37	19	51015409	51015409	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:51015409G>A	uc010enz.3	-	5	854	c.792C>T	c.(790-792)ttC>ttT	p.F264F	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.4_Silent_p.F159F	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	Homo sapiens aspartate dehydrogenase domain containing (ASPDH), transcript variant 1, mRNA.	264					NAD biosynthetic process|NADP catabolic process		NADP binding|aspartate dehydrogenase activity			endometrium(1)|large_intestine(1)|lung(1)	3						GGCTCTGCCAGAAGGCCGTGA	0.711000														5			4		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95733140	95733140	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:95733140C>T	uc003kls.2	-	11	1861	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	PCSK1_uc010jbi.2_Missense_Mutation_p.R231Q|PCSK1_uc021ybq.1_Missense_Mutation_p.R494Q	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	541					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGTATCCCGTTCTCTTTC	0.408000														34			14		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905886	139905886	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:139905886G>A	uc004ckm.1	-	36	5909	c.5859C>T	c.(5857-5859)ttC>ttT	p.F1953F	ABCA2_uc022bpy.1_Silent_p.F1854F|ABCA2_uc022bpz.1_Silent_p.F1924F|ABCA2_uc011mem.1_Silent_p.F1923F|ABCA2_uc004ckl.1_Silent_p.F1854F|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1923					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Y1952F(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGTAGCAGGAAGGTGGCCA	0.647000														7			4		0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159790331	159790331	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:159790331C>T	uc003iqe.4	+	12	2726	c.2543C>T	c.(2542-2544)cCt>cTt	p.P848L		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	848	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCGGAAGGACCTGTGCTGGAG	0.632000														73			25		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655261	38655261	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:38655261C>T	uc021wvo.1	-	4	728	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	SCN5A_uc021wvk.1_Intron|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Intron|SCN5A_uc021wvn.1_Missense_Mutation_p.A226T|SCN5A_uc021wvp.1_Intron|SCN5A_uc021wvq.1_Missense_Mutation_p.A226T|SCN5A_uc021wvr.1_Missense_Mutation_p.A226T|SCN5A_uc021wvs.1_Intron|SCN5A_uc021wvt.1_Intron|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Intron|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Intron|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	226			A -> V (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTTTTCAGGGCCCGGAGGACT	0.493000														13			3		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809953	7809954	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:7809953_7809954CC>TT	uc002mht.2	-	4	840_841	c.773_774GG>AA	c.(772-774)tgg>tAA	p.W258*	CD209_uc010xju.1_Nonsense_Mutation_p.W97*|CD209_uc010dvp.2_Nonsense_Mutation_p.W234*|CD209_uc002mhr.2_Nonsense_Mutation_p.W234*|CD209_uc002mhs.2_Nonsense_Mutation_p.W188*|CD209_uc002mhu.2_Nonsense_Mutation_p.W166*|CD209_uc010dvq.2_Nonsense_Mutation_p.W258*|CD209_uc002mhq.2_Nonsense_Mutation_p.W258*|CD209_uc002mhv.2_Nonsense_Mutation_p.W234*|CD209_uc002mhx.2_Nonsense_Mutation_p.W214*|CD209_uc002mhw.2_Nonsense_Mutation_p.W122*|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	258					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.W258R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGTCCATTCCCAGGGACAGGG	0.569000														74			21		0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43161961	43161961	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:43161961C>T	uc011cpw.2	+	4	1018	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	ZNF131_uc010ivl.1_Missense_Mutation_p.H294Y|ZNF131_uc003jnj.4_Missense_Mutation_p.H49Y|ZNF131_uc003jnk.3_Missense_Mutation_p.H294Y|ZNF131_uc003jnn.4_Missense_Mutation_p.H49Y|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	Homo sapiens zinc finger protein 131 (ZNF131), mRNA.	328						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAAAAAATTCATGTATGTCA	0.353000														39			11		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824745	74824745	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:74824745C>T	uc021rwl.1	+	0	1259	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	VRTN_uc001xpw.4_Missense_Mutation_p.P420L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	420					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACACTGGTACCCTATCGCTGC	0.572000														84			19		0	0	1	0	0
COMMD1	150684	broad.mit.edu	37	2	62132845	62132845	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:62132845C>A	uc002sbp.3	+	0	43	c.32C>A	c.(31-33)cCc>cAc	p.P11H		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.	11					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGTGGCAAACCCCTGAGCGGG	0.667000														12			4		0.184627	0.184627	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141335818	141335818	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:141335818G>A	uc003llx.3	-	0	2810	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	533	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATCACCTGGAACTCAAAGC	0.542000														58			20		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236766515	236766515	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:236766515A>C	uc001hyd.2	-	2	456	c.304T>G	c.(304-306)Tcg>Gcg	p.S102A	HEATR1_uc001hye.2_Missense_Mutation_p.S102A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	102					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGTAAGGCGACAAGTGAATA	0.398000														66			28		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16217018	16217018	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:16217018C>T	uc003car.4	+	0	835	c.360C>T	c.(358-360)atC>atT	p.I120I	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	120						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						ACCGCCTCATCAAGCAGCCAA	0.617000														34			7		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54590048	54590048	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:54590048G>A	uc021smr.1	+	9	4022	c.4022G>A	c.(4021-4023)cGa>cAa	p.R1341Q	UNC13C_uc021sms.1_Missense_Mutation_p.R1343Q|UNC13C_uc002acl.3_Missense_Mutation_p.R173Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1343					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGGCCATACGATTGAAAATC	0.343000														10			5		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981715	7981715	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:7981715C>T	uc001mfv.1	-	1	1461	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	482	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTGGTCCTCTTTCACCAGG	0.507000														96			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347456	140347456	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140347456G>A	uc003lii.3	+	0	1710	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.D369N	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	369					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTCACGGACCTGTATAG	0.587000														55			13		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696517	68696517	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:68696517G>A	uc001stz.2	-	11	1991	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S	MDM1_uc009zqv.1_Missense_Mutation_p.P339S|MDM1_uc010stc.1_Missense_Mutation_p.P584S	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	619						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GGGTATTTTGGAATTTTTGAA	0.458000														79			24		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92569765	92569765	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:92569765G>A	uc001pdj.4	+	14	10137	c.10120G>A	c.(10120-10122)Gga>Aga	p.G3374R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3374	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGCCCAACGGACAGATTCA	0.408000										TCGA Ovarian(4;0.039)				69			13		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789305	5789305	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:5789305G>A	uc001iij.3	+	14	4546	c.3921G>A	c.(3919-3921)gaG>gaA	p.E1307E	FAM208B_uc001iik.3_Silent_p.E151E	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1307																	AGCAATTTGAGGAGGCCCCAT	0.443000														208			48		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903827	4903827	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:4903827G>A	uc010qyp.2	+	0	779	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R260Q(2)|p.R233Q(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGTGGCCCGAAAGAAGCAA	0.478000														36			17		0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157414076	157414076	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:157414076C>T	uc002tzf.4	+	8	1507	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	GPD2_uc010zch.2_Silent_p.L156L|GPD2_uc002tzd.4_Silent_p.L383L|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	383					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GCGTAATTACCTGAGTTGTGA	0.408000														31			4		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67425091	67425091	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:67425091G>A	uc002lkl.3	+	6	1035	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	280							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGCGTTGGTGAAATCTACAG	0.443000														30			13		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:124359953C>T	uc001uft.4	+	45	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000														32			6		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108163629	108163629	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:108163629C>T	uc003dxa.1	-	22	2630	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	858						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTTCTTCTCCTACTTCTGA	0.438000														91			27		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248757031	248757031	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:248757031G>A	uc010pzn.2	-	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCAACAGGAAAAAGTCAC	0.448000														41			9		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078763	22078763	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:22078763G>A	uc010iuc.2	-	1	481	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CDH12_uc011cno.1_Missense_Mutation_p.S8F|CDH12_uc003jgk.2_Missense_Mutation_p.S8F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	8					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAAGCAGGGATAAACAGTT	0.438000										HNSCC(59;0.17)				112			16		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623925	25623925	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:25623925C>T	uc003abp.1	+	3	327	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	93	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GGACGGACTCCCTCAGCTCCC	0.592000														76			22		0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455150	27455150	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:27455150T>G	uc003zqn.3	-	1	895	c.399A>C	c.(397-399)gaA>gaC	p.E133D		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.	133							metal ion binding|protein binding										TTGGAAATATTTCCTCGTTGT	0.433000														52			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472625	179472625	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179472625G>A	uc021vsy.1	-	224	45410	c.45185C>T	c.(45184-45186)aCc>aTc	p.T15062I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T8757I|TTN_uc021vta.1_Missense_Mutation_p.T8690I|TTN_uc021vtb.1_Missense_Mutation_p.T8565I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15989	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTGACGGTGTACTGACG	0.498000														100			23		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794032	14794032	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:14794032G>A	uc001rcd.3	-	17	2189	c.2052C>T	c.(2050-2052)agC>agT	p.S684S		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	684	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGTCCCGACAGCTCAAAGTGT	0.498000														47			14		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268829	28268829	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:28268829C>T	uc003nky.3	+	6	1618	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	PGBD1_uc003nkz.3_Missense_Mutation_p.P400S	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	400					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCCAATTTTCCAAGCTGGTC	0.373000														77			24		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27509101	27509101	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:27509101C>T	uc003xga.1	+	2	324	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SCARA3_uc003xgb.1_Silent_p.F61F	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	61					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TTTACCTCTTCCTGGCCCTGC	0.647000														108			22		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867603	29867604	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:29867603_29867604GG>AA	uc002kxl.3	-	3	1012_1013	c.956_957CC>TT	c.(955-957)ccc>cTT	p.P319L	FAM59A_uc002kxk.2_Missense_Mutation_p.P319L	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	319	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CCAGGGTTTCGGGCCAGCTCTC	0.535000														38			17		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427696	27427696	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:27427696G>A	uc001bnm.3	-	10	2734	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	SLC9A1_uc001bnl.3_Missense_Mutation_p.S207L|SLC9A1_uc010ofk.2_Missense_Mutation_p.S364L	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	703					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.G702S(1)|p.G702G(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCCCTTACCTGAGCCGATGCG	0.632000														26			6		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402088	9402088	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:9402088G>A	uc021wam.1	+	22	2278	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	PLCB4_uc010gbw.1_Missense_Mutation_p.E755K|PLCB4_uc010gbx.3_Missense_Mutation_p.E767K|PLCB4_uc021wal.1_Missense_Mutation_p.E755K|PLCB4_uc002wnh.3_Missense_Mutation_p.E602K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	755	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTACAATGAAGAGTCATTTGT	0.423000														54			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769655	140769655	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140769655C>T	uc003lkc.2	+	0	2204	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	755					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCCGAATCCGTGGTTCCC	0.527000														229			55		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336598	42336598	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:42336598C>T	uc002igf.4	-	8	958	c.809G>A	c.(808-810)gGa>gAa	p.G270E	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	270					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCCTCAGGTCCCAGCAACAC	0.662000														45			8		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	197277	197277	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrGL000192.1:197277G>A	uc010yii.1	-	7	1226	c.1005C>T	c.(1003-1005)aaC>aaT	p.N335N	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	2033										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCTTTCCGGTTCTTGGCCA	0.532000														22			12		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88577678	88577678	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:88577678G>A	uc003hqv.3	+	1	138	c.34G>A	c.(34-36)Gga>Aga	p.G12R	DMP1_uc003hqw.3_Missense_Mutation_p.G12R	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	12					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.W11L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GTTCCTTTGGGGATTATCCTG	0.388000														116			20		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152287816C>T	uc001ezu.1	-	1	153	c.117G>A	c.(115-117)aaG>aaA	p.K39K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(2)		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)			GCCGAAATTCCTTTTCCAGAA	0.328000									Ichthyosis					139			26		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154283	248154283	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:248154283G>A	uc001idv.1	+	0	715	c.471G>A	c.(469-471)tcG>tcA	p.S157S	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						AGGCCTATTCGACCTGCAGCA	0.498000														82			26		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61882449	61882449	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:61882449G>A	uc002jbu.3	+	7	897	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	DDX42_uc002jbv.3_Missense_Mutation_p.E214K|DDX42_uc002jbw.1_5'UTR|DDX42_uc002jbx.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	214					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCACCATTTGAAAAAAACTT	0.343000														47			8		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715072	40715072	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40715072G>A	uc002ona.3	+	5	1786	c.1498G>A	c.(1498-1500)Ggg>Agg	p.G500R		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	500					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGATCCGATGGGGCCAGCCC	0.552000														105			27		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121428098	121428098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:121428098C>T	uc001pxx.3	+	18	2776	c.2647C>T	c.(2647-2649)Ctc>Ttc	p.L883F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	883					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTCTGGTCCTCGTGCCCCA	0.502000														58			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061992	9061992	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9061992G>A	uc002mkp.3	-	2	25658	c.25454C>T	c.(25453-25455)cCc>cTc	p.P8485L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8487	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCATAATGGGGGAAGTAGA	0.493000														204			44		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48537810	48537810	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:48537810T>C	uc003gyh.1	-	47	7033	c.6428A>G	c.(6427-6429)aAt>aGt	p.N2143S	FRYL_uc003gyg.1_Missense_Mutation_p.N839S|FRYL_uc003gyi.1_Missense_Mutation_p.N1031S|FRYL_uc003gyj.1_Missense_Mutation_p.N438S	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2143					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGTGCCAGATTGACAAGTGT	0.368000														17			4		0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8417167	8417167	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:8417167G>A	uc011did.2	-	8	1312	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Missense_Mutation_p.S312F|SLC35B3_uc003myb.3_Missense_Mutation_p.S312F	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	312					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CAGAACAAAGGAGATTCCAAA	0.333000														72			15		0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31404389	31404389	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:31404389G>A	uc001wqu.2	-	6	1184	c.968C>T	c.(967-969)tCg>tTg	p.S323L	STRN3_uc001wqv.2_Missense_Mutation_p.S323L|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	323					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GCCATCCCCCGAACTCCGTGC	0.433000														78			27		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008477	46008477	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:46008477C>T	uc011bal.1	-	6	2461	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G	FYCO1_uc003cpb.4_Silent_p.G783G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	783					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTTGGACCTCCCCCTGATGGA	0.632000														50			19		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159616	154159616	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:154159616G>C	uc004fmt.3	-	13	2620	c.2449C>G	c.(2449-2451)Cct>Gct	p.P817A		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	817	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTGGAGTAGGACTCTGTCGC	0.423000														43			29		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060331	111060332	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:111060331_111060332CC>TT	uc001dzt.1	-	0	1466_1467	c.1078_1079GG>AA	c.(1078-1080)ggg>AAg	p.G360K		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	360						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GATCTGCAGCCCCTTGGAGTGG	0.574000														93			29		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38184467	38184467	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:38184467G>A	uc009vvi.3	-	15	2864	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	926						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAAGGCACGGTCCGCTAGTG	0.677000														26			4		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245468	69245468	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:69245468A>T	uc003dnv.2	-	13	1462	c.1172T>A	c.(1171-1173)cTg>cAg	p.L391Q	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.L43Q|FRMD4B_uc011bga.1_Missense_Mutation_p.L235Q	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	391						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CAGTGTCACCAGCTTGGAGGC	0.438000														164			41		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911199	230911199	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:230911199C>T	uc002vqd.2	-	3	1102	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.G215S|SLC16A14_uc002vqf.3_Missense_Mutation_p.G215S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	215						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGTTTTTACCAGGAGAGAGG	0.552000														55			21		0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96361620	96361620	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:96361620G>A	uc001tel.2	+	8	1386	c.1280G>A	c.(1279-1281)tGa>tAa	p.*427*	AMDHD1_uc009zth.2_Silent_p.*318*	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	0					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TATAAAACATGATAGATTTGA	0.254000														5			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90050888	90050888	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:90050888C>T	uc003kju.3	+	54	11562	c.11466C>T	c.(11464-11466)ttC>ttT	p.F3822F	GPR98_uc003kjt.3_Silent_p.F1528F|GPR98_uc003kjv.3_Silent_p.F1422F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3822					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACCCAATTTCTTACTGCATG	0.363000														63			11		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78385034	78385034	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:78385034G>A	uc010blb.1	+	0	108	c.108G>A	c.(106-108)gaG>gaA	p.E36E	SNORA63_uc021sre.1_5'Flank	NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	36										endometrium(2)|kidney(2)|lung(3)	7						GGTTCATGGAGACACAGGCCC	0.597000														11			4		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167128972	167128972	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:167128972G>A	uc010fpl.3	-	16	3596	c.3255C>T	c.(3253-3255)tcC>tcT	p.S1085S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1096						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1085S(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTCCAAATCGGATTCCCCAG	0.413000														11			3		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142434	126142434	+	Silent	SNP	G	A	A	rs145864589		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:126142434G>A	uc010hsg.1	+	11	1295	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	CCDC37_uc003eiu.1_Silent_p.T411T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	411				Missing (in Ref. 3; AAI01370/AAI01368).						NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCCAGGAGACGGAGAAGACCC	0.612000														73			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046630	9046630	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9046630C>T	uc002mkp.3	-	4	35205	c.35001G>A	c.(34999-35001)ggG>ggA	p.G11667G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11669	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCTGTGTCCCAGGATGGG	0.517000														73			18		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72539108	72539108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:72539108G>A	uc002jky.1	-	2	780	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	140	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CTGGGGGCTGGAGGCTGTGGT	0.602000														77			22		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885474	24885474	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:24885474T>C	uc001wpf.4	+	8	4837	c.4519T>C	c.(4519-4521)Ttt>Ctt	p.F1507L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1507					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCCTCACCGTTTAGTTCTGC	0.552000														25			8		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37612221	37612221	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:37612221C>T	uc002yvg.3	+	17	3114	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	DOPEY2_uc011aeb.2_Missense_Mutation_p.S961F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1012					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGAGAACCTCCATCCACTGC	0.657000														11			3		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:77767503G>A	uc003yau.2	+	9	8733	c.8346G>A	c.(8344-8346)gaG>gaA	p.E2782E	ZFHX4_uc003yaw.1_Silent_p.E2737E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428000										HNSCC(33;0.089)				23			7		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677759	25677759	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:25677759C>T	uc003grr.3	+	12	1542	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	SLC34A2_uc003grs.3_Silent_p.I486I|SLC34A2_uc010iev.3_Silent_p.I486I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	487					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGTTGCAGATCGCCCTGTGCC	0.602000			T	ROS1	NSCLC									28			11		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30866796	30866796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:30866796G>A	uc001rji.1	-	15	3425	c.2674C>T	c.(2674-2676)Cct>Tct	p.P892S	CAPRIN2_uc001rjf.1_Missense_Mutation_p.P688S|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P559S|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P842S|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P891S|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P558S|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P836S	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	892					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAATTGAAGGGAGTCCTCTA	0.323000														60			7		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157323	14157323	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14157323C>T	uc002mxx.3	+	7	1457	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	345	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAACCGGGGCCTGGGGAACCA	0.637000														136			38		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373013	100373013	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:100373013C>T	uc003uwj.3	+	32	6005	c.5840C>T	c.(5839-5841)tCt>tTt	p.S1947F	ZAN_uc003uwk.3_Missense_Mutation_p.S1947F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S35F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1948	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTAACCATTCTATCCCGGAC	0.572000														29			18		0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840162	109840162	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:109840162C>T	uc001dxk.1	-	2	362	c.312G>A	c.(310-312)ggG>ggA	p.G104G	MYBPHL_uc010ovh.1_Silent_p.G104G|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	104	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGTCTTGCTCCCCATTCCGCA	0.592000														59			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106518618	106518618	+	RNA	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106518618C>T	uc021ser.1	-	2195		c.39335G>A								Parts of antibodies, mostly variable regions.																		AAGGTGAATCCAGAGGCTGCA	0.572000														123			37		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5284731	5284731	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:5284731A>C	uc002gbm.4	+	16	2642	c.2418A>C	c.(2416-2418)agA>agC	p.R806S	RABEP1_uc010vsw.1_Missense_Mutation_p.R763S|RABEP1_uc002gbl.4_Missense_Mutation_p.R773S|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	806					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAGCTCAGAGATTACAGACAG	0.393000														29			8		0	0	1	0	0
MRPL13	28998	broad.mit.edu	37	8	121457312	121457313	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:121457312_121457313GG>AA	uc003ypa.3	-	0	335_336	c.22_23CC>TT	c.(22-24)ccc>TTc	p.P8F	MTBP_uc003ypc.1_5'Flank|MRPL13_uc010mdf.3_Non-coding_Transcript|MTBP_uc003ypb.1_5'Flank|MTBP_uc011lie.1_5'Flank	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	8					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.P8S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTCACCTGGGGCGCCCTAGAG	0.569000														118			24		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185138934	185138934	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:185138934G>A	uc003iwc.3	-	0	181	c.39C>T	c.(37-39)gcC>gcT	p.A13A		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	13					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CCAGGCCCAGGGCAAGGGCCA	0.632000														25			12		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26582163	26582163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:26582163G>A	uc001bls.1	+	3	841	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	CEP85_uc001blr.3_Missense_Mutation_p.R237Q|CEP85_uc010ofa.1_Missense_Mutation_p.R186Q	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	237						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GTGTTTGAGCGGAATGGACCA	0.597000														76			8		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085773	95085773	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:95085773C>T	uc001ydp.3	+	2	1044	c.885C>T	c.(883-885)acC>acT	p.T295T	SERPINA3_uc001ydo.4_Silent_p.T320T|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.T295T|SERPINA3_uc001yds.3_Silent_p.T295T	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	295					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.T295T(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCCCAGAGACCCTGAAGCGGT	0.562000														38			8		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305841	54305841	+	Silent	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:54305841T>C	uc021smr.1	+	0	741	c.741T>C	c.(739-741)ttT>ttC	p.F247F	UNC13C_uc021sms.1_Silent_p.F247F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	247					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATGATCTTTAAGGAACTTC	0.468000														58			16		0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31653795	31653795	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:31653795T>C	uc001mtc.3	+	6	805	c.770T>C	c.(769-771)aTt>aCt	p.I257T	ELP4_uc001mtb.3_Missense_Mutation_p.I257T|ELP4_uc010rdz.2_Missense_Mutation_p.I258T			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	257					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGAATAGGAATTCAGAATCTT	0.358000														30			6		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066273	23066273	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:23066273C>T	uc002wsv.3	-	0	705	c.557G>A	c.(556-558)gGc>gAc	p.G186D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	186				G -> A (in Ref. 1; AA sequence).	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCGGCACATGCCTTTGAAGCT	0.642000														83			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432170	179432171	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179432170_179432171CC>AA	uc021vsy.1	-	274	71209_71210	c.70984_70985GG>TT	c.(70984-70986)gga>TTa	p.G23662L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17357L|TTN_uc021vta.1_Missense_Mutation_p.G17290L|TTN_uc021vtb.1_Missense_Mutation_p.G17165L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24589							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTATCTCCTCTTAACCAC	0.386000														61			19		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865815	57865815	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:57865815G>T	uc001snx.3	+	11	3386	c.3292G>T	c.(3292-3294)Gaa>Taa	p.E1098*	GLI1_uc021qzi.1_Nonsense_Mutation_p.E1057*|GLI1_uc009zpq.3_Nonsense_Mutation_p.E970*	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1098					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTACCTGGGGAAACAGAATT	0.522000														68			11		7.03913e-09	7.10338e-09	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57528829	57528829	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:57528829C>T	uc011kdi.1	+	3	774	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTGGCAAATCCTTTAACTGC	0.383000														17			5		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79411970	79411970	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:79411970G>A	uc001diq.4	-	2	470	c.314C>T	c.(313-315)aCc>aTc	p.T105I		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	105	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATACAGACGGTTCCATCATT	0.358000														23			7		0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365152	13365152	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:13365152G>A	uc003nat.2	-	1	1743	c.996C>T	c.(994-996)acC>acT	p.T332T	GFOD1_uc021ylt.1_Silent_p.T229T|GFOD1_uc003nas.2_Silent_p.T229T	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	332						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGGCGGCCATGGTGAGGGGCC	0.652000														77			16		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874108	48874108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:48874108G>A	uc002rwp.2	+	7	3131	c.3017G>A	c.(3016-3018)aGg>aAg	p.R1006K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R1006K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R959K|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.R302K|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.R268K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	959					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTAAAAATAGGATGTATGGA	0.433000														35			11		0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95907507	95907507	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:95907507C>T	uc001tec.3	+	10	1398	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	METAP2_uc010suv.2_Missense_Mutation_p.R399C|METAP2_uc001tef.3_Missense_Mutation_p.R399C|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	422					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ATGGCTGGATCGCTTGGGAGA	0.403000														93			18		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837254	40837254	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:40837254C>T	uc002iay.3	+	4	747	c.531C>T	c.(529-531)ttC>ttT	p.F177F	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	177					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACTCTATTTCGACGGCGACG	0.632000														64			16		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714468	183714468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:183714468C>T	uc003ivd.1	+	24	6718	c.6643C>T	c.(6643-6645)Cga>Tga	p.R2215*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2215					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCTTCTAACTCGAGTTTACAG	0.488000														69			14		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393468	145393468	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:145393468C>T	uc003lnt.3	+	4	1141	c.903C>T	c.(901-903)atC>atT	p.I301I	SH3RF2_uc011dbl.1_Silent_p.I301I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	301							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTTTCCATCACAACAGCCT	0.577000														99			33		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195534	78195534	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:78195534G>A	uc002jyb.2	+	2	481	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Missense_Mutation_p.G59S|SLC26A11_uc002jyd.2_Missense_Mutation_p.G59S|SLC26A11_uc010dhv.2_Missense_Mutation_p.G59S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	59						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTCTCAGTTGGCCTCACTGC	0.647000														42			11		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873796	36873796	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:36873796G>A	uc003cgj.3	-	20	7394	c.7146C>T	c.(7144-7146)taC>taT	p.Y2382Y		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2382					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGAGCCTCTTGTAGTCTTCTG	0.468000														108			19		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594351	140594351	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140594351G>A	uc003lja.1	+	0	843	c.656G>A	c.(655-657)gGc>gAc	p.G219D		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGATGGTGGCTCTCCGCCC	0.537000														123			15		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100246	184100246	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:184100246G>A	uc003fov.3	+	6	1015	c.769G>A	c.(769-771)Gca>Aca	p.A257T	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.A257T|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	257	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCATGTGGCACTTGTGAC	0.642000														219			79		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506719	37506719	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:37506719G>A	uc021ppc.1	+	32	3111	c.3012G>A	c.(3010-3012)agG>agA	p.R1004R	ANKRD30A_uc001iza.1_Silent_p.R1004R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1060						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAGCATAGGAAAGAGTTAG	0.333000														29			4		0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979427	92979427	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:92979427G>A	uc010otf.2	-	18	2262	c.2252C>T	c.(2251-2253)tCc>tTc	p.S751F	EVI5_uc001dox.3_Missense_Mutation_p.S740F	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	740	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTCATCGGAGGAATGGAATGA	0.448000														34			11		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57351242	57351242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:57351242C>T	uc001smi.4	-	0	177	c.5G>A	c.(4-6)tGg>tAg	p.W2*	RDH16_uc009zpa.3_5'UTR	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	2					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CAGGTAGAGCCACATGGCTTT	0.547000														80			24		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76523744	76523744	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:76523744T>C	uc002fex.1	+	11	2192	c.2053T>C	c.(2053-2055)Tat>Cat	p.Y685H	CNTNAP4_uc002feu.1_Missense_Mutation_p.Y681H|CNTNAP4_uc002fev.1_Missense_Mutation_p.Y546H|CNTNAP4_uc010chb.1_Missense_Mutation_p.Y609H|CNTNAP4_uc002few.2_Missense_Mutation_p.Y657H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	682	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGTTTACTTATTACTGCAA	0.463000														13			4		0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255394	5255394	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:5255394C>T	uc001maf.1	-	1	337	c.142G>A	c.(142-144)Gat>Aat	p.D48N		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	48			D -> V (in Parkville; dbSNP:rs34977235).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGACAGATCCCCAAAGGAC	0.522000														78			26		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97984040	97984040	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:97984040G>A	uc003dsi.1	+	0	912	c.912G>A	c.(910-912)atG>atA	p.M304I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P303R(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAAATCCCATGATCTACAGCC	0.358000														46			10		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15841722	15841722	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:15841722G>A	uc003gol.1	+	5	840	c.733G>A	c.(733-735)Ggt>Agt	p.G245S	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	245					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GGTGATACATGGTGGAAGAGA	0.423000														113			26		0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34818913	34818913	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:34818913G>A	uc002nvd.4	+	5	1820	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	321								p.E321D(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGCGAGGCGGAAGCCCAGCA	0.612000														149			30		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94564545	94564545	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:94564545G>A	uc001dqh.3	-	5	677	c.573C>T	c.(571-573)ttC>ttT	p.F191F	ABCA4_uc010otn.1_Silent_p.F191F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	191					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCCATGAGCGAACTGCAGGG	0.587000														12			3		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475885	32475885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:32475885C>T	uc002roi.3	-	3	1309	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S	NLRC4_uc021vfq.1_Missense_Mutation_p.G350S|NLRC4_uc002roj.2_Missense_Mutation_p.G350S|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	350	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCACTTTCACCCATCTGGATT	0.443000														28			11		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006232	8006232	+	Silent	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:8006232A>G	uc010qbd.2	+	2	759	c.759A>G	c.(757-759)gcA>gcG	p.A253A		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	253					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTCCAGTTGCAAAATCACAAA	0.438000														54			17		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230306	21230306	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:21230306G>A	uc002red.3	-	25	9562	c.9434C>T	c.(9433-9435)cCt>cTt	p.P3145L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3145					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCAGTGGAGGAGTTGTGAT	0.358000														58			15		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091704	74091704	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:74091704G>A	uc021ulp.1	-	3	2684	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGAGCCACGGAGTTGCAGCT	0.592000														25			7		0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392741	22392741	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:22392741C>T	uc010aiz.2	+	1	339	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_Non-coding_Transcript					SubName: Full=HADV14S1; Flags: Fragment;																		CATTGAATTTCCAGAAGGCAA	0.463000														102			24		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78272244	78272244	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:78272244G>A	uc002jyh.2	+	11	2426	c.2283G>A	c.(2281-2283)tgG>tgA	p.W761*	RNF213_uc002jyf.3_Nonsense_Mutation_p.W712*|RNF213_uc021uen.1_Nonsense_Mutation_p.W712*|RNF213_uc002jyg.1_Nonsense_Mutation_p.W443*	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	712								p.W712*(2)|p.W761*(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGATGCCTGGAGACAGCCTG	0.582000														48			16		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393058	233393059	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:233393058_233393059CC>TT	uc002vsw.3	+	3	334_335	c.330_331CC>TT	c.(328-333)ctccca>ctTTca	p.P111S	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.P96S|CHRND_uc010zmh.2_Missense_Mutation_p.S20F	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	111					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGGTGTGGCTCCCAGAGATTGT	0.574000														74			14		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043797	20043797	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:20043797C>T	uc002dgu.1	-	1	484	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	GPR139_uc010vaw.1_Missense_Mutation_p.E15K	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	108						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GATGAGAATTCCAGCACTTCT	0.463000														52			22		0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141913	31141913	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31141913C>T	uc002eay.3	+	8	1161	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	KAT8_uc002eax.3_Silent_p.S381S|KAT8_uc002eaz.3_Silent_p.S223S|KAT8_uc002eba.3_Silent_p.S165S	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	381					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GCACACTGTCCATCAAGGACC	0.647000														54			9		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676915	2676915	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:2676915C>T	uc009zdu.1	+	12	2163	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S617F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S617F|CACNA1C_uc001qke.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S617F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S617F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S617F|CACNA1C_uc001qko.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S617F|CACNA1C_uc001qku.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S617F|CACNA1C_uc001qks.2_Missense_Mutation_p.S617F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S617F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S614F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S617F|CACNA1C_uc001qka.1_Missense_Mutation_p.S152F|CACNA1C_uc001qki.1_Missense_Mutation_p.S353F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	617					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGGGCATCTCCGTGCTCAGA	0.562000														22			10		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232629367	232629367	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:232629367G>A	uc001hvg.3	-	1	1681	c.1523C>T	c.(1522-1524)cCa>cTa	p.P508L		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	508					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACTGCTACTGGACCAAGGTT	0.453000														149			84		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196549	8196549	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:8196549C>T	uc002mjf.3	-	13	1896	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	627	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGGAGCCCTTCTCGATG	0.677000														62			14		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964611	123964611	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:123964611G>A	uc022bag.1	+	0	861	c.861G>A	c.(859-861)ccG>ccA	p.P287P	ZHX2_uc003ypk.1_Silent_p.P287P	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	287	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCTTACCCGACCCAGGCTG	0.507000														75			27		0	0	1	0	0
ZNF672	79894	broad.mit.edu	37	1	249141905	249141905	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:249141905C>T	uc001iex.3	+	3	1127	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ZNF672_uc021pme.1_Silent_p.F144F	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTGCTCTTCCACCAGGCGC	0.766000														2			4		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651317	142651317	+	Missense_Mutation	SNP	C	T	T	rs142497392		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:142651317C>T	uc003wcb.3	-	7	1088	c.878G>A	c.(877-879)cGg>cAg	p.R293Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	293					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTGTGCCCGCCGCTGCTC	0.572000														30			19		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151682955	151682955	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:151682955G>A	uc010ipj.3	-	34	5869	c.5625C>T	c.(5623-5625)atC>atT	p.I1875I	LRBA_uc003ilt.4_Silent_p.I534I|LRBA_uc003ilu.4_Silent_p.I1875I	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1875						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGACAAGTTCGATAAAAGCAA	0.294000														69			16		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677204	7677204	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:7677204G>A	uc002mgu.4	+	12	2007	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	CAMSAP3_uc002mgv.4_Missense_Mutation_p.E609K|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	609					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCGGCTGGAGGAGAAACGCAG	0.682000														19			3		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263205	14263205	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14263205G>A	uc010xnn.2	-	21	3876	c.3580C>T	c.(3580-3582)Cgt>Tgt	p.R1194C	LPHN1_uc010xno.2_Missense_Mutation_p.R1189C|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1194					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGCCCCCACGGGGCTGCAGC	0.637000														51			18		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120834608	120834608	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:120834608C>T	uc002tmg.3	+	7	758	c.567C>T	c.(565-567)ttC>ttT	p.F189F	EPB41L5_uc010flk.3_Silent_p.F189F|EPB41L5_uc010fll.3_Silent_p.F189F|EPB41L5_uc002tmh.4_Silent_p.F189F|EPB41L5_uc010flm.3_5'UTR	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	189	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGTTCAGATTCGTGCCTATTC	0.378000														101			32		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219297673	219297673	+	Splice_Site	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:219297673A>T	uc002vib.3	+	12	1522	c.1500_splice	c.e12+1	p.Q500_splice	VIL1_uc010zke.2_Splice_Site_p.Q189_splice|VIL1_uc002via.3_Splice_Site_p.Q500_splice	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	500	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGTCTACCAGGTGTGGCTG	0.572000														51			3		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35776457	35776457	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:35776457G>A	uc003jjo.3	+	28	4288	c.4177G>A	c.(4177-4179)Gaa>Aaa	p.E1393K	SPEF2_uc003jjp.1_Missense_Mutation_p.E879K|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1393					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAACTCATGGAAAAATGGCT	0.343000														88			26		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	177054614	177054614	+	Splice_Site	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:177054614T>C	uc011dgc.2	-	2	258	c.130_splice	c.e2-1	p.N44_splice	C5orf25_uc011dgb.1_Splice_Site	NM_198567	NP_940969	Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	459												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TTGACCCTTGTTCTGTAGAGA	0.408000														26			9		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85334079	85334079	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:85334079G>A	uc002bld.3	+	4	2700	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	788					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGTAAAGGAGAATTGCCTGC	0.587000														75			14		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476536	17476536	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:17476536G>A	uc002ngk.1	-	2	778	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	246						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTGCGTGGGATAATGGAGT	0.582000														81			24		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750583	141750583	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:141750583G>A	uc003vwy.3	+	23	2778	c.2724G>A	c.(2722-2724)gaG>gaA	p.E908E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	908	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGGACGGAGGAACCTAGCA	0.383000														44			25		0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780185	93780185	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:93780185G>A	uc003dri.3	-	1	508	c.171C>T	c.(169-171)acC>acT	p.T57T	DHFRL1_uc003drj.3_Silent_p.T57T|DHFRL1_uc021xbk.1_Silent_p.T57T|NSUN3_uc003drk.3_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	Homo sapiens dihydrofolate reductase-like 1 (DHFRL1), transcript variant 2, mRNA.	57	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		NADP binding|dihydrofolate reductase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TGGAGAACCAGGTCTTCCTAC	0.438000														153			41		0	0	1	0	0
PYDC1	260434	broad.mit.edu	37	16	31228283	31228283	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31228283A>G	uc021tgv.1	-	0	67	c.67T>C	c.(67-69)Ttc>Ctc	p.F23L	TRIM72_uc002ebn.2_Intron|PYDC1_uc002ebo.3_Missense_Mutation_p.F23L	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	Homo sapiens PYD (pyrin domain) containing 1 (PYDC1), mRNA.	23	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TTCATCTTGAACTTCTTGAGC	0.652000														42			13		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36179621	36179621	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:36179621C>T	uc003gsq.2	-	8	2023	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K	ARAP2_uc003gsr.1_Missense_Mutation_p.R562K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	562	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.E561*(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCAGTCATTTCTCTCCTCTGA	0.378000														40			6		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75100425	75100426	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:75100425_75100426AG>TA	uc002snd.3	+	4	2444_2445	c.518_519AG>TA	c.(517-519)aag>aTA	p.K173I		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	173	Regulatory.|Substrate 1 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TCATGGACCAAGGGATTCAAGT	0.535000														109			35		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639517	7639517	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:7639517G>A	uc001qsz.3	-	8	2244	c.2116C>T	c.(2116-2118)Cca>Tca	p.P706S	CD163_uc001qta.3_Missense_Mutation_p.P706S|CD163_uc009zfw.2_Missense_Mutation_p.P739S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	706					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTTTCTTCTGGAATGGTAGGC	0.418000														30			10		0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102888015	102888015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:102888015G>A	uc003koi.3	-	5	1274	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	NUDT12_uc011cvb.2_Missense_Mutation_p.S376F	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	394	Nudix hydrolase.					nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CATTAAGGAGGAAGGCATTGG	0.428000														54			17		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749053	14749053	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14749053T>C	uc002mzi.4	-	10	1496	c.1348A>G	c.(1348-1350)Aac>Gac	p.N450D	EMR3_uc010dzp.3_Missense_Mutation_p.N398D|EMR3_uc010xnv.2_Missense_Mutation_p.N324D	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	450					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACTGTCAGGTTCCGTGCAGTG	0.557000														77			20		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100371061	100371061	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:100371061C>T	uc003uwj.3	+	29	5744	c.5579C>T	c.(5578-5580)tCc>tTc	p.S1860F	ZAN_uc003uwk.3_Missense_Mutation_p.S1860F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S437F|ZAN_uc011kke.2_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1860	TIL 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTGGAACCTCCTGCGTGCCC	0.627000														42			26		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239206	160239206	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:160239206C>T	uc002uao.3	-	24	4274	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	BAZ2B_uc002uap.3_Missense_Mutation_p.R1254Q	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTCCTTCTTCGCTTGCGTCC	0.473000														13			3		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960904	106960904	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:106960904G>A	uc001kyi.1	+	15	2381	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	718						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGGAGAAAGGAAAATATTCA	0.463000														24			10		0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23695342	23695342	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:23695342C>T	uc002dlz.1	+	4	1021	c.968C>T	c.(967-969)cCa>cTa	p.P323L		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	323					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		ACCATTCCACCAAGGTTTTCG	0.552000														147			44		0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85674156	85674156	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:85674156C>T	uc001tae.4	+	0	121	c.117C>T	c.(115-117)tcC>tcT	p.S39S		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	39					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACAATGAGTCCTTTTACAGCA	0.582000														74			25		0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131313	150131313	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:150131313C>T	uc001ett.3	+	5	1103	c.825C>T	c.(823-825)atC>atT	p.I275I	PLEKHO1_uc001ets.3_Silent_p.I92I|PLEKHO1_uc001etu.3_Silent_p.I103I|PLEKHO1_uc021oyc.1_Silent_p.I92I	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	275	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGAGGAGATCCTATCTCAGC	0.657000														56			9		0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73502388	73502388	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:73502388C>G	uc002joc.3	-	7	1274	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	CASKIN2_uc010wsc.2_Missense_Mutation_p.E160Q|CASKIN2_uc002jod.3_Missense_Mutation_p.E242Q	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	242						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATACCCACCTCCAGAAGCAGC	0.667000														33			6		0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55600989	55600989	+	Silent	SNP	C	T	T	rs139521880	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:55600989C>T	uc002eid.1	+	0	406	c.321C>T	c.(319-321)gtC>gtT	p.V107V	LPCAT2_uc002eie.4_Intron|LPCAT2_uc002eic.3_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	Homo sapiens calpain, small subunit 2 (CAPNS2), mRNA.	107						cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TCAACAAAGTCCTTTCTAAGC	0.473000														96			23		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691819	8691819	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:8691819C>T	uc001quo.1	-	2	379	c.214G>A	c.(214-216)Gga>Aga	p.G72R		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	72						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATACCTGATCCATAATTGTAG	0.383000														75			35		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052378	90052378	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:90052378G>A	uc003kju.3	+	55	11784	c.11688G>A	c.(11686-11688)atG>atA	p.M3896I	GPR98_uc003kjt.3_Missense_Mutation_p.M1602I|GPR98_uc003kjv.3_Missense_Mutation_p.M1496I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3896					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCCCGGAATGGAAATAGCTG	0.408000														52			14		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33951553	33951553	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:33951553C>T	uc002hjr.3	+	5	852	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AP2B1_uc002hjq.3_Silent_p.F221F|AP2B1_uc010wci.2_Silent_p.F183F|AP2B1_uc002hjs.3_Silent_p.F164F|AP2B1_uc002hjt.3_Silent_p.F221F|AP2B1_uc010ctv.3_Silent_p.F221F|AP2B1_uc010wcj.2_5'UTR	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	221					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCAGATTTTCATCCTGGACT	0.473000														59			17		0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063703	74063703	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:74063703G>A	uc003pgs.2	-	1	216	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	55	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CCTTCAGCTCGAGCATGGCCT	0.587000														45			15		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022274	189022274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:189022274G>A	uc011cle.1	-	2	638	c.416C>T	c.(415-417)aCc>aTc	p.T139I	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.T89I|TRIML2_uc011clf.1_Missense_Mutation_p.T139I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	89							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTCAGAAGGGTTTCTCTCAG	0.438000														33			12		0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161595991	161595991	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:161595991C>T	uc009wul.3	-	3	889	c.629G>A	c.(628-630)gGg>gAg	p.G210E	FCGR3B_uc021pdo.1_Missense_Mutation_p.G174E	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	174					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAACAAGCCCCCTGCAGAA	0.463000														74			37		0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70736566	70736566	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:70736566G>A	uc001dex.4	-	11	1794	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	ANKRD13C_uc009wbk.3_Missense_Mutation_p.L455F	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	490					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCTGGAGGAAGCTTCATCTGA	0.303000														26			5		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584266	88584266	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:88584266G>A	uc003hqv.3	+	5	1440	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	DMP1_uc003hqw.3_Missense_Mutation_p.E430K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	446					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TCAGAGCGAGGAAAGCCATTC	0.542000														38			15		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64147048	64147048	+	Silent	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:64147048C>A	uc002scq.3	-	14	2296	c.2133G>T	c.(2131-2133)ggG>ggT	p.G711G	VPS54_uc002scp.3_Silent_p.G699G|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Silent_p.G196G|VPS54_uc010fct.3_Silent_p.G558G	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	711					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AAGCAATCTTCCCATCTGACA	0.358000														21			11		3.86212e-05	3.8738e-05	1	1	0
GABRA6	2559	broad.mit.edu	37	5	161119161	161119161	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:161119161G>A	uc003lyu.2	+	7	1379	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V	GABRA6_uc003lyv.2_Silent_p.V118V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	347					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCCACAGTGACAATATCAA	0.423000										TCGA Ovarian(5;0.080)				62			11		0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61766961	61766961	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:61766961C>T	uc002jbg.3	+	10	1248	c.929C>T	c.(928-930)cCc>cTc	p.P310L	MAP3K3_uc002jbe.3_Missense_Mutation_p.P341L|MAP3K3_uc002jbf.3_Missense_Mutation_p.P341L|MAP3K3_uc002jbh.3_Missense_Mutation_p.P337L|MAP3K3_uc010wpo.2_Missense_Mutation_p.P225L|MAP3K3_uc010wpp.2_Missense_Mutation_p.P306L	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	310					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ACCCTGGTGCCCTCCAGCCGC	0.607000														26			5		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233374	23233374	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:23233374G>A	uc009vqj.1	+	10	2205	c.2060G>A	c.(2059-2061)gGt>gAt	p.G687D	EPHB2_uc001bge.3_Missense_Mutation_p.G688D|EPHB2_uc001bgf.3_Missense_Mutation_p.G687D|EPHB2_uc010odu.2_Missense_Mutation_p.G629D	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	687	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACCTGGAGGGTGTCGTGACC	0.597000														38			7		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900899	51900899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:51900899G>A	uc002iua.2	+	0	661	c.505G>A	c.(505-507)Gag>Aag	p.E169K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	169					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTGCAGCAGGAGATCCGAGC	0.547000														89			23		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19901515	19901515	+	Silent	SNP	A	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:19901515A>C	uc010rdm.2	+	4	973	c.612A>C	c.(610-612)tcA>tcC	p.S204S	NAV2_uc001mpp.3_Silent_p.S140S|NAV2_uc001mpr.4_Silent_p.S204S|NAV2_uc021qew.1_Silent_p.S204S	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	204	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						aCCTCTCCTCACCTCTGCCGC	0.652000														36			13		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1742107	1742107	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:1742107G>A	uc004cqd.3	+	2	361	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	ASMT_uc010ncy.3_Missense_Mutation_p.V49M|ASMT_uc004cqe.3_Missense_Mutation_p.V49M	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	49					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				CGTGGCGGCAGTGGCTGCAGG	0.632000														34			13		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225270	3225270	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:3225270G>A	uc021xkv.1	+	54	7753	c.7608G>A	c.(7606-7608)ctG>ctA	p.L2536L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2536					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAAGCCTCTGAAAGCTCTCG	0.597000														43			10		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208265	53208265	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:53208265G>A	uc002xwy.3	+	4	740	c.520G>A	c.(520-522)Gtc>Atc	p.V174I		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	174	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAATCCCAGAGTCAAACTCAT	0.458000														53			12		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283589	159283589	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:159283589G>A	uc010piu.2	-	0	861	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTACACAACAGGGTTCAGTAG	0.512000														101			17		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167289094	167289094	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:167289094C>T	uc002udu.2	-	14	2456	c.2326G>A	c.(2326-2328)Gac>Aac	p.D776N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	776					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCCATTGTGTCCTTTGGGACA	0.338000														71			28		0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712502	1712502	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:1712502C>T	uc010uvh.2	+	10	2425	c.2425C>T	c.(2425-2427)Cct>Tct	p.P809S	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	809						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TTTGAGAAACCCTCCAAGACC	0.547000														122			33		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10418208	10418208	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:10418208C>T	uc002gmo.3	-	5	604	c.510G>A	c.(508-510)cgG>cgA	p.R170R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	170	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R170L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACTGATTCTCCCGATCTAGAA	0.323000														48			22		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487870	31487870	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31487870C>T	uc002ecd.2	+	8	991	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TGFB1I1_uc021tgx.1_Silent_p.P302P|TGFB1I1_uc002ece.2_Silent_p.P302P	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	319	LIM zinc-binding 2.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCGGGGAGCCCTTCGGAGATG	0.647000														20			10		0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333957	11333958	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:11333957_11333958CC>TT	uc001asg.3	+	0	703_704	c.369_370CC>TT	c.(367-372)gaccga>gaTTga	p.R124*		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	124					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CACTTGTGGACCGAATCTTGGA	0.540000														45			19		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135528	27135528	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:27135528C>T	uc003sye.3	-	0	98	c.4G>A	c.(4-6)Gac>Aac	p.D2N	HOXA1_uc003syd.3_Missense_Mutation_p.D2N|HOXA1_uc022aao.1_Missense_Mutation_p.D2N|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	2						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTGCATTGTCCATCTGTCAC	0.537000											OREG0003739|OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=HOXA1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		113			58		0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95601066	95601066	+	RNA	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:95601066C>T	uc021vlc.1	-	1		c.183G>A			LOC442028_uc002stv.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC442028 (LOC442028), non-coding RNA.																		GTTACCTTTCCCGTTCTGGAA	0.348000														22			4		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128616	55128616	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:55128616G>A	uc003pcl.3	+	3	1073	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R188Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	253					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R253Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCTGGTGTCGACAGGTATAT	0.368000														21			5		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825126	4825126	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:4825126A>G	uc021qcs.1	-	0	485	c.485T>C	c.(484-486)tTc>tCc	p.F162S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGAAGCAGAAGGGGCTCAC	0.552000														74			20		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090582	184090583	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:184090582_184090583AG>TA	uc003fol.1	-	5	995_996	c.780_781CT>TA	c.(778-783)ctcttt>ctTAtt	p.F261I	THPO_uc003fom.2_Missense_Mutation_p.F257I|THPO_uc021xii.1_Missense_Mutation_p.L255Y|THPO_uc003fon.3_Missense_Mutation_p.L222Y|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Missense_Mutation_p.L218Y|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Missense_Mutation_p.L182Y	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	261					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCAGGAAAGAGTCCACGAG	0.559000														134			42		0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747755	88747755	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:88747755G>A	uc002flj.3	-	1	512	c.444C>T	c.(442-444)gcC>gcT	p.A148A	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	148					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AGCCGCCCGGGGCTCGGGGCA	0.706000														88			31		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130769249	130769249	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:130769249G>A	uc003kvn.2	-	24	4054	c.3848C>T	c.(3847-3849)tCc>tTc	p.S1283F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S1333F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S1296F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S1291F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S1291F|RAPGEF6_uc003kvm.2_Missense_Mutation_p.S206F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1283	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCAGACATGGAGTCAACAGA	0.493000														44			14		0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69111322	69111322	+	Silent	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:69111322A>G	uc003dno.3	-	9	722	c.702T>C	c.(700-702)ttT>ttC	p.F234F	UBA3_uc003dnq.3_Silent_p.F220F|UBA3_uc011bfy.2_Silent_p.F57F|UBA3_uc011bfz.2_Silent_p.F57F	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	234					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TGCACATGGGAAAATTAACCT	0.368000														76			25		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582844	55582844	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:55582844A>C	uc010qhy.1	-	34	5058	c.4663T>G	c.(4663-4665)Ttt>Gtt	p.F1555V	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.F1550V|PCDH15_uc021pqz.1_Missense_Mutation_p.F1525V|PCDH15_uc010qhv.1_Missense_Mutation_p.F1545V|PCDH15_uc010qhw.1_Missense_Mutation_p.F1508V|PCDH15_uc010qhx.1_Missense_Mutation_p.F1479V|PCDH15_uc010qhz.1_Missense_Mutation_p.F1550V|PCDH15_uc010qia.1_Missense_Mutation_p.F1528V|PCDH15_uc001jju.1_Missense_Mutation_p.F1548V|PCDH15_uc010qib.1_Missense_Mutation_p.F1525V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1548					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1554P(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGTCTACAAAATCTGTTCTC	0.403000										HNSCC(58;0.16)				63			21		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728930	15728930	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15728930C>T	uc002nbi.3	+	2	382	c.318C>T	c.(316-318)atC>atT	p.I106I	CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	106					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567000														125			26		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9401956	9401956	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:9401956C>T	uc021wam.1	+	22	2146	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.Q711*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.Q723*|PLCB4_uc021wal.1_Nonsense_Mutation_p.Q711*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.Q558*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	711	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATATCAGGTCAATTCTTATC	0.408000														46			13		0	0	1	0	0
DEFB113	245927	broad.mit.edu	37	6	49936524	49936524	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:49936524G>A	uc011dwq.2	-	1	115	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	39					defense response to bacterium	extracellular region		p.R39C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CAAGCACCACGAACAAGCTGA	0.403000														29			7		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11184597	11184597	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:11184597G>A	uc001asd.3	-	46	6741	c.6620C>T	c.(6619-6621)aCc>aTc	p.T2207I	MTOR_uc001asc.3_Missense_Mutation_p.T412I	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2207	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.N2206S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGCCAGAAGGGTGTTAACCAG	0.463000														52			20		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102591178	102591178	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:102591178C>T	uc022bky.1	+	3	1655	c.887C>T	c.(886-888)tCg>tTg	p.S296L	NR4A3_uc004bae.3_Missense_Mutation_p.S285L|NR4A3_uc004baf.1_Missense_Mutation_p.S285L	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	285					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCAGGAGCTCGTCGTCTGGC	0.716000			T	EWSR1	extraskeletal myxoid chondrosarcoma									6			3		0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3124597	3124597	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:3124597C>T	uc001igp.3	+	1	206	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	PFKP_uc001igq.3_Missense_Mutation_p.P9L|PFKP_uc009xhr.3_Missense_Mutation_p.R6C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	44					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CGCTGCCGTCCGTGCCGTGGT	0.592000														52			11		0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196539713	196539713	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:196539713T>A	uc003fwy.4	+	9	1248	c.926T>A	c.(925-927)tTt>tAt	p.F309Y		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	309	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	p.N308D(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATCGTTAACTTTTTGGACAGG	0.373000														24			11		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012476	134012476	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:134012476G>A	uc009ybb.3	+	8	965	c.811_splice	c.e8+1	p.G271_splice		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	271					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		AAGCGCAGAGGTGAGCACCCA	0.677000														36			20		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923199	159923199	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:159923199G>A	uc001fus.3	-	1	408	c.291C>T	c.(289-291)atC>atT	p.I97I	SLAMF9_uc009wtd.3_Silent_p.I97I|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	97						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGATTGCTGATATGCAGGG	0.512000														73			12		0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16056393	16056393	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:16056393C>T	uc010obo.2	+	13	2404	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	726					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGCACTGGCCAAATTTGTG	0.557000														52			17		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158300366	158300366	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:158300366C>T	uc002tzj.1	-	0	239	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	56					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TACCTGCTTTCGTCCCCGAGG	0.448000														74			19		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348300	155348300	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:155348300G>A	uc009wqq.3	-	8	6712	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	ASH1L_uc001fkt.3_Missense_Mutation_p.R2073C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2078					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.Y2077Y(1)|p.R2073C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTGAACGAATTTTCTTA	0.343000														27			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54793035	54793035	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:54793035C>T	uc021smr.1	+	19	5154	c.5154C>T	c.(5152-5154)ttC>ttT	p.F1718F	UNC13C_uc021sms.1_Silent_p.F1720F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1720	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCCCACAGTTCCAGCAGACAT	0.443000														33			9		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632798	177632798	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:177632798C>T	uc003ius.1	-	3	989	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	187					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACTGTAATTTCAAATAACTAC	0.373000														88			29		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141131	143141131	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:143141131C>T	uc011ktg.2	+	0	586	c.586C>T	c.(586-588)Cct>Tct	p.P196S	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	196					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P196H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTATCTCTTCCCTCTAAAAAT	0.418000														147			35		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791381	95791381	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:95791381T>C	uc001kjk.3	+	1	1212	c.578T>C	c.(577-579)gTt>gCt	p.V193A	PLCE1_uc010qnx.2_Missense_Mutation_p.V193A	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	193					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CATTATGAAGTTGACAGAAGA	0.423000														51			15		0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	228120	228120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:228120G>A	uc004cpe.1	-	2	405	c.404C>T	c.(403-405)tCc>tTc	p.S135F		NM_012227	NP_036359	O43824	GTPB6_HUMAN	Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA.	364						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGCGGAGAAGGACTCGATGAG	0.697000														32			9		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306467	3306467	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:3306467G>A	uc002cun.1	-	0	161	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	MEFV_uc021tbw.1_Missense_Mutation_p.P41S|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	41	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGGCTCCGGGGGATCCTGGAG	0.592000														77			25		0	0	1	0	0
JAZF1	221895	broad.mit.edu	37	7	27934844	27934844	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:27934844G>A	uc003szn.3	-	2	621	c.380C>T	c.(379-381)cCg>cTg	p.P127L	JAZF1_uc003szm.3_Missense_Mutation_p.P63L	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	127					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CTCACCTGTCGGAGTGCTGCT	0.622000			T	SUZ12	endometrial stromal tumours									20			3		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798353	54798353	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:54798353G>A	uc003dhf.3	+	12	1403	c.1355G>A	c.(1354-1356)tGg>tAg	p.W452*	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.W358*|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.W186*	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	452	Cache.					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)		GATGTGGTGTGGACCGAAGCT	0.517000														66			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039998	32039998	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:32039998C>T	uc003nzl.2	-	12	4961	c.4759G>A	c.(4759-4761)Gat>Aat	p.D1587N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1669	Fibronectin type-III 8.				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						GGGGTTATATCCGTCACTGTC	0.602000														30			10		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149862	167149862	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:167149862G>A	uc010fpl.3	-	8	1327	c.986C>T	c.(985-987)aCc>aTc	p.T329I	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.T200I|SCN9A_uc002uds.1_Missense_Mutation_p.T200I|SCN9A_uc002udt.1_Missense_Mutation_p.T200I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	329						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTCACACAGGTGTACCCCTC	0.438000														10			3		0	0	1	0	0
PHF17	79960	broad.mit.edu	37	4	129764135	129764135	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:129764135C>T	uc011cgy.2	+	2	394	c.80C>T	c.(79-81)tCc>tTc	p.S27F	PHF17_uc003igj.3_Missense_Mutation_p.S27F|PHF17_uc003igk.3_Missense_Mutation_p.S27F|PHF17_uc003igl.3_Missense_Mutation_p.S27F|PHF17_uc003igm.3_Missense_Mutation_p.S27F	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	27					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCAGAATTCCCGATCCCAG	0.448000														60			13		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687980	62687980	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:62687980G>A	uc003peg.2	-	3	721	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAGGAACCAGGAATTTTTTAA	0.353000														43			15		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224911	45224911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:45224911G>A	uc002xsf.2	-	4	719	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	SLC13A3_uc010ghn.2_Missense_Mutation_p.R196C|SLC13A3_uc010zxx.2_Missense_Mutation_p.R129C|SLC13A3_uc010zxw.2_Silent_p.I204I|SLC13A3_uc002xsg.2_Missense_Mutation_p.R180C|SLC13A3_uc010gho.2_Missense_Mutation_p.R180C	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	227						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATGTTCCGACGATATTCATCC	0.542000														114			29		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669055	53669055	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:53669055C>T	uc010eqm.1	-	3	788	c.688G>A	c.(688-690)Gga>Aga	p.G230R		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGTTTTTCTCCAGTATGGATG	0.393000														50			35		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108212	95108212	+	Silent	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:95108212T>A	uc001ydt.3	+	1	817	c.729T>A	c.(727-729)gtT>gtA	p.V243V						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CCACAGCGGTTCTGGTGAATC	0.562000														123			40		0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149039266	149039266	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:149039266C>T	uc021xfl.1	-	4	695	c.605G>A	c.(604-606)tGa>tAa	p.*202*	TM4SF18_uc003exa.3_Silent_p.*202*	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	0						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTCCTTATTCAAATGATTCC	0.313000														31			14		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064949	7064949	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:7064949G>A	uc001mfb.1	+	3	2015	c.1692G>A	c.(1690-1692)atG>atA	p.M564I		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	564					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCAGTGTATGGAAGTATTAG	0.368000														50			7		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315260	22315260	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:22315260C>T	uc001wbz.1	+	1	423	c.198C>T	c.(196-198)ctC>ctT	p.L66L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.L47L					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		TCCAGCTTCTCCTGAAGTACA	0.498000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			29		0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87741977	87741977	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:87741977C>T	uc002fki.3	-	10	1645	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	AX747795_uc021tmk.1_5'Flank|KLHDC4_uc002fkh.1_Non-coding_Transcript|KLHDC4_uc010cht.2_Silent_p.R199R|KLHDC4_uc002fkj.3_Missense_Mutation_p.E484K|KLHDC4_uc002fkl.3_Missense_Mutation_p.E458K	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	515										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCACCGCTCTCCTCTCCGCTG	0.617000														62			13		0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100787272	100787272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:100787272G>A	uc003hvf.4	+	7	858	c.768G>A	c.(766-768)tgG>tgA	p.W256*	DAPP1_uc010ilh.3_Nonsense_Mutation_p.W256*	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	256	PH.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TATTACGCTGGAAATTGGTGA	0.358000														22			7		0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810726	169810726	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:169810726G>A	uc003maq.1	-	2	663	c.263C>T	c.(262-264)gCt>gTt	p.A88V	KCNIP1_uc003map.3_Intron|KCNMB1_uc003mar.3_Missense_Mutation_p.A88V	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	88					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTACAGCACAGCCCACCTGCC	0.592000														46			14		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117252575	117252575	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:117252575C>T	uc003pxm.3	+	18	2756	c.2693C>T	c.(2692-2694)aCc>aTc	p.T898I		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	898					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCTCAAGAAACCCTGGACTCC	0.453000														31			20		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883871	19883871	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:19883871G>A	uc010vav.2	-	1	606	c.375C>T	c.(373-375)ttC>ttT	p.F125F	GPRC5B_uc021tef.1_Silent_p.F91F|GPRC5B_uc002dgt.3_Silent_p.F99F	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	99										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCCCCAGGAGGAACAGAAAGT	0.607000														41			9		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158595957	158595957	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158595957G>A	uc001fst.1	-	41	6088	c.5889C>T	c.(5887-5889)ttC>ttT	p.F1963F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1963					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAAGAGTGAGGAAGTCACCAA	0.398000														51			8		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298376	184298376	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:184298376C>T	uc003foz.3	+	11	2796	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	787	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGAGGATGACCCCTCCGATCC	0.637000														80			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107170163	107170163	+	RNA	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:107170163G>A	uc021ser.1	-	44		c.2721C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAGACCTTCAC	0.592000														130			22		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174781025	174781025	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:174781025G>A	uc001gjx.3	+	18	2544	c.2267G>A	c.(2266-2268)aGa>aAa	p.R756K	RABGAP1L_uc001gkb.4_5'UTR|RABGAP1L_uc001gkc.4_Missense_Mutation_p.R63K|RABGAP1L_uc001gkd.4_Missense_Mutation_p.R82K|RABGAP1L_uc001gke.4_Missense_Mutation_p.R75K	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	756					regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAGTTCTTTAGAGTTCAGCTT	0.373000														44			28		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696117	150696118	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:150696117_150696118AG>GA	uc003wif.3	+	7	1196_1197	c.900_901AG>GA	c.(898-903)ccagaa>ccGAaa	p.E301K	NOS3_uc011kuy.2_Missense_Mutation_p.E95K|NOS3_uc011kva.2_Missense_Mutation_p.E301K|NOS3_uc011kuz.2_Missense_Mutation_p.E301K|NOS3_uc011kvb.2_Missense_Mutation_p.E301K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	301	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ATGATCCCCCAGAACTCTTCCT	0.653000														262			38		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231373	6231373	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:6231373G>A	uc001mcj.3	+	1	414	c.366G>A	c.(364-366)aaG>aaA	p.K122K		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	122										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCCTGCAAGATCCGCCTAC	0.582000														86			27		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058237	170058237	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:170058237C>T	uc002ues.3	-	43	8566	c.8353G>A	c.(8353-8355)Gag>Aag	p.E2785K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2785	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACATAAACTCCGTGGTGGCA	0.463000														48			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058049	9058049	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9058049G>A	uc002mkp.3	-	2	29601	c.29397C>T	c.(29395-29397)atC>atT	p.I9799I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9801	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTGTCATGATTTCAGAGG	0.453000														51			20		0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78403604	78403604	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:78403604C>T	uc021ueo.1	+	8	839	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	ENDOV_uc002jyk.3_Missense_Mutation_p.P226S|ENDOV_uc002jyl.2_Missense_Mutation_p.P226S|ENDOV_uc021uep.1_Intron|ENDOV_uc021ueq.1_Non-coding_Transcript|ENDOV_uc021uer.1_Non-coding_Transcript|ENDOV_uc021ues.1_Intron	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	Homo sapiens endonuclease V (ENDOV), transcript variant 1, mRNA.	271					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						AGTGGCATGCCCCAAAGGAGA	0.657000								Direct reversal of damage						63			11		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030305	6030305	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:6030305C>T	uc001qnm.2	-	2	495	c.423G>A	c.(421-423)ctG>ctA	p.L141L	ANO2_uc021qtt.1_Silent_p.L145L	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	145						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CGAGCGGTCCCAGCTCAATGT	0.612000														45			15		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164790855	164790855	+	Missense_Mutation	SNP	G	A	A	rs146653553		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:164790855G>A	uc001gct.3	+	7	1655	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	PBX1_uc010pku.2_Missense_Mutation_p.G398S|PBX1_uc001gcs.3_3'UTR|PBX1_uc010pkv.2_Missense_Mutation_p.G315S|PBX1_uc010pkw.1_Missense_Mutation_p.G288S	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	398					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CAGTCCGCAGGGCATCAGTGT	0.468000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									35			20		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005451	74005451	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:74005451C>T	uc010wss.1	-	21	4129	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	EVPL_uc002jqi.2_Missense_Mutation_p.E1279K|EVPL_uc010wst.1_Missense_Mutation_p.E749K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1279	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTGACGAGCTCGTTGAGCTGA	0.667000														104			37		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420545	55420545	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:55420545G>A	uc001sgp.4	+	1	700	c.322G>A	c.(322-324)Gat>Aat	p.D108N	NEUROD4_uc021qyr.1_Missense_Mutation_p.D108N	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	108	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGACGCCCTGGATAACCTGAG	0.483000														70			15		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394626	154394626	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:154394626A>G	uc010jih.1	+	0	1367	c.1207A>G	c.(1207-1209)Agt>Ggt	p.S403G		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	403					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAAAATTAAGTCGTTGTCT	0.453000														129			34		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22314047	22314047	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:22314047G>A	uc002zvs.3	-	14	2151	c.1716C>T	c.(1714-1716)gcC>gcT	p.A572A	TOP3B_uc010gtm.2_Silent_p.A117A|TOP3B_uc002zvt.4_Silent_p.A572A|TOP3B_uc010gtl.3_Silent_p.A572A	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	572					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCTTGCCCTGGGCGATCAGGT	0.602000														135			30		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109904	42109904	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:42109904G>A	uc001zok.4	+	16	2179	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	MAPKBP1_uc010bci.3_Silent_p.T625T|MAPKBP1_uc010udb.2_Silent_p.T464T|MAPKBP1_uc001zoj.4_Silent_p.T625T|MAPKBP1_uc010bcj.3_Silent_p.T132T|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Silent_p.T132T	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	631										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGAAGTACACGGCTATCGGCT	0.587000														18			8		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47821563	47821564	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:47821563_47821564GG>AA	uc002zji.4	+	25	4997_4998	c.4890_4891GG>AA	c.(4888-4893)tcgggc>tcAAgc	p.G1631S	PCNT_uc002zjj.3_Missense_Mutation_p.G1513S	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1631					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCCTCCTTCGGGCAGCCCTCC	0.564000														91			20		0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8983349	8983349	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:8983349A>T	uc003brd.3	-	4	496	c.406T>A	c.(406-408)Ttc>Atc	p.F136I		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	136					DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGATCAAGAAATTATCCATT	0.408000								Rad6 pathway						94			16		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743036	26743036	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:26743036G>A	uc001mra.2	-	0	539	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.R76C	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	76					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R76L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCCCAAAGCGGTAGACTTCA	0.512000														53			8		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212773	26212773	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:26212773C>T	uc022buc.1	+	0	810	c.810C>T	c.(808-810)ctC>ctT	p.L270L	MAGEB6_uc004dbr.3_Silent_p.L270L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	270	MAGE.							p.G269G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGCTAGGCCTCCCCAGTGAAG	0.527000														49			30		0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148871434	148871434	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:148871434C>T	uc003ewu.1	+	7	1540	c.1400_splice	c.e7+1	p.L467_splice	HPS3_uc011bnq.1_Splice_Site_p.L302_splice|HPS3_uc021xfk.1_Silent_p.L360L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	467						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAAGAGGCTTCTGTAAGCATC	0.413000									Hermansky-Pudlak syndrome					68			21		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105168803	105168803	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:105168803G>A	uc004emd.3	+	18	3395	c.3092G>A	c.(3091-3093)aGt>aAt	p.S1031N	NRK_uc010npc.1_Missense_Mutation_p.S699N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1031							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATGGAGGAAGTGCAGCCAGT	0.498000										HNSCC(51;0.14)				11			13		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282980	5282980	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:5282980G>A	uc010zqw.2	-	1	869	c.861C>T	c.(859-861)tgC>tgT	p.C287C	PROKR2_uc010zqx.2_Silent_p.C287C|PROKR2_uc010zqy.2_Silent_p.C287C	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	287						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGGGTGCCCAGCACAGCACAT	0.577000										HNSCC(71;0.22)				45			15		0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46745000	46745000	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:46745000C>T	uc001ndf.4	+	5	534	c.491C>T	c.(490-492)aCc>aTc	p.T164I		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	164	Kringle 1.			T -> I (in Ref. 9; AA sequence).|T -> N (in Ref. 7; CAA23842).	STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GACAGCAGCACCACGGGACCC	0.612000														40			8		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276515	108276515	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:108276515C>T	uc003ymn.3	-	7	1738	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	ANGPT1_uc011lhv.2_Missense_Mutation_p.D224N|ANGPT1_uc003ymo.3_Missense_Mutation_p.D423N	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	424	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTGCTGAAATCAGCACCGTGT	0.408000														56			14		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99473510	99473511	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:99473510_99473511CC>TT	uc002bul.3	+	14	2982_2983	c.2932_2933CC>TT	c.(2932-2934)ccg>TTg	p.P978L	IGF1R_uc010bon.3_Missense_Mutation_p.P977L|IGF1R_uc010boo.1_Non-coding_Transcript	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	978					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTCTGTGAACCCGGAGTACTTC	0.515000														9			5		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431321	135431321	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:135431321C>T	uc004ezu.1	+	5	5747	c.5456C>T	c.(5455-5457)tCa>tTa	p.S1819L	GPR112_uc010nsb.1_Missense_Mutation_p.S1614L|GPR112_uc010nsc.1_Missense_Mutation_p.S1586L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1819					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCCTGTTTCATACCCTCCA	0.403000														37			33		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142650981	142650981	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:142650981C>T	uc003wcb.3	-	8	1197	c.987G>A	c.(985-987)ctG>ctA	p.L329L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	329					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGAAGGGCTCAGGGACATCG	0.537000														191			40		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47894815	47894815	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:47894815G>A	uc003csb.2	-	17	3815	c.3289C>T	c.(3289-3291)Ctg>Ttg	p.L1097L	MAP4_uc003csc.3_Intron|MAP4_uc003crw.2_Silent_p.L176L|MAP4_uc003crx.2_Silent_p.L273L|MAP4_uc011bbe.1_Intron|MAP4_uc003csa.3_Silent_p.L763L|MAP4_uc003crz.4_Non-coding_Transcript	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	1097					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCCGGACACAGAGGAGCCTCG	0.672000														22			4		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515682	47515682	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:47515682G>A	uc001cqt.3	+	11	1616	c.1366G>A	c.(1366-1368)Ggg>Agg	p.G456R	CYP4X1_uc001cqr.3_Missense_Mutation_p.G455R|CYP4X1_uc001cqs.3_Missense_Mutation_p.G391R	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	456						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GAACTGCATTGGGCAGGAGTT	0.413000														91			31		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79378933	79378933	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:79378933A>G	uc021yaw.1	+	21	3046	c.2855A>G	c.(2854-2856)cAa>cGa	p.Q952R	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	952					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAAGAGTTTCAAACCCAGAAT	0.483000											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			29		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34817259	34817259	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:34817259C>T	uc010gfq.3	+	11	3300	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S	EPB41L1_uc002xeu.3_Silent_p.S779S|EPB41L1_uc002xev.3_Silent_p.S880S|EPB41L1_uc002xew.3_Silent_p.S772S|EPB41L1_uc002xex.3_Silent_p.S701S|EPB41L1_uc002xey.3_Silent_p.S631S|EPB41L1_uc002xez.3_Silent_p.S779S|EPB41L1_uc002xfb.3_Silent_p.S881S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	881					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCCAGGAATCCTGACCTCTGT	0.507000														30			7		0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48292628	48292628	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:48292628C>T	uc002efi.1	+	3	789	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.P190S	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	234					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AACCAGAAAACCCAAGCAAGA	0.348000														81			24		0	0	1	0	0
AKTIP	64400	broad.mit.edu	37	16	53532426	53532426	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:53532426G>A	uc002ehm.3	-	2	307	c.125C>T	c.(124-126)tCt>tTt	p.S42F	AKTIP_uc002ehk.3_Missense_Mutation_p.S42F|AKTIP_uc002ehl.3_Missense_Mutation_p.S42F|AKTIP_uc010vgx.2_Missense_Mutation_p.S42F	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	42					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTTGGGAATAGAAGGCAGCTG	0.483000														73			19		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141751568	141751568	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:141751568G>A	uc002tvj.1	-	15	3612	c.2640C>T	c.(2638-2640)aaC>aaT	p.N880N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	880	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATACAGCAGTTTACTGAAT	0.423000										TSP Lung(27;0.18)				50			15		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102646024	102646024	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:102646024G>A	uc001phg.2	-	6	998	c.961C>T	c.(961-963)Cct>Tct	p.P321S		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	321	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAGGTTCAGGGTTCCAGTGG	0.323000														51			11		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955729	18955729	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:18955729C>T	uc001mpg.3	-	0	821	c.603G>A	c.(601-603)agG>agA	p.R201R		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	201					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACAGAGAATCCTGATCAGCA	0.522000														44			5		0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144801563	144801563	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:144801563C>T	uc003ijj.3	-	2	192	c.136_splice	c.e2+1	p.G46_splice	GYPE_uc003ijk.4_Splice_Site_p.G46_splice	NM_198682	NP_941391	P15421	GLPE_HUMAN	Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.	46						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					TGAAAACAAACCATTTGTCTG	0.398000														75			16		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133478150	133478150	+	Missense_Mutation	SNP	G	A	A	rs121918680		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:133478150G>A	uc003epu.2	+	13	2908	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	TF_uc011blt.2_Missense_Mutation_p.E267K|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.E394K	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	394	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGAGACCACCGAAGACTGCAT	0.547000														67			28		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153728	45153728	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:45153728C>T	uc003com.3	-	2	637	c.502G>A	c.(502-504)Gat>Aat	p.D168N	CDCP1_uc003con.3_Missense_Mutation_p.D168N	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	168						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ACGGTGGCATCGATTCGGCCG	0.567000														125			25		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169108827	169108827	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:169108827T>C	uc003maf.3	+	6	630	c.550T>C	c.(550-552)Ttc>Ctc	p.F184L	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	184					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCAGCTTGTTCCATGCACA	0.393000														99			38		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874923	39874923	+	Silent	SNP	C	T	T	rs138250796		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:39874923C>T	uc001zkh.3	+	2	776	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	199	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTCCGCATCGCAAAGGGGG	0.562000														36			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426465	179426465	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179426465C>T	uc021vsy.1	-	274	76915	c.76690G>A	c.(76690-76692)Gaa>Aaa	p.E25564K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19259K|TTN_uc021vta.1_Missense_Mutation_p.E19192K|TTN_uc021vtb.1_Missense_Mutation_p.E19067K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26491	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCGGTTTTCTGCACAAACA	0.453000														30			4		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58047965	58047965	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:58047965C>T	uc021rtp.1	-	3	820	c.771G>A	c.(769-771)tgG>tgA	p.W257*	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Nonsense_Mutation_p.W135*	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGCACAATCCATGACAGCA	0.458000														26			5		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36380973	36380973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:36380973C>T	uc001bzl.3	+	14	2071	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	EIF2C1_uc001bzk.3_Missense_Mutation_p.P545S|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	620	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGATGCCCACCCCAGCCGATA	0.512000														61			16		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447709	63447709	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:63447709C>T	uc001xfx.3	-	5	874	c.823G>A	c.(823-825)Gga>Aga	p.G275R	KCNH5_uc001xfy.3_Missense_Mutation_p.G275R|KCNH5_uc001xfz.1_Missense_Mutation_p.G217R|KCNH5_uc001xga.3_Missense_Mutation_p.G217R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	275					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATGACCTCTCCACCGGGCCCC	0.438000														47			9		0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514186	69514186	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:69514186G>A	uc001opf.3	-	2	957	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	165					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GCATGGGCAGGAAATGAGAGA	0.587000														140			30		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45417530	45417530	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:45417530C>T	uc001rok.1	-	2	819	c.647G>A	c.(646-648)cGa>cAa	p.R216Q		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAGTTTCTTTCGGTCTGTTTT	0.413000														192			49		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:130762527G>A	uc003qcb.3	+	1	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_uc003qca.3_Silent_p.R320R|TMEM200A_uc010kfh.3_Silent_p.R320R|TMEM200A_uc010kfi.3_Silent_p.R320R|TMEM200A_uc021zfg.1_Silent_p.R320R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	320						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)		GTAGGTCAAGGAATTTGTCAA	0.428000														30			8		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153191630	153191630	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:153191630C>T	uc004fjk.2	-	0	85	c.27G>A	c.(25-27)cgG>cgA	p.R9R	ARHGAP4_uc004fjl.2_Silent_p.R9R|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	9					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCCGCTCCCGCCGCAGCT	0.736000														7			12		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10651259	10651259	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:10651259C>T	uc010rcc.1	-	5	787	c.401_splice	c.e5-1	p.D134_splice	MRVI1_uc010rcb.1_Splice_Site_p.D125_splice|MRVI1_uc001miw.2_Splice_Site_p.D125_splice|MRVI1_uc001mix.3_Splice_Site|MRVI1_uc001miz.2_Splice_Site_p.D43_splice|MRVI1_uc010rcd.1_Splice_Site_p.D134_splice|MRVI1_uc009ygd.1_Splice_Site|MRVI1_uc010rce.1_Splice_Site	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	125					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCCGCGGGGTCTGCAGAAGGA	0.592000														23			5		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952866	54952866	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:54952866C>T	uc003dhl.3	-	2	792	c.658G>A	c.(658-660)Gac>Aac	p.D220N	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	220	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTAAGGAGGTCCTTTCCCTTC	0.522000														22			11		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034382	14034382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14034382C>T	uc002mxo.2	+	15	2085	c.1786C>T	c.(1786-1788)Caa>Taa	p.Q596*	CC2D1A_uc002mxp.2_Nonsense_Mutation_p.Q596*|CC2D1A_uc010dzh.2_Nonsense_Mutation_p.Q165*|CC2D1A_uc002mxq.1_Nonsense_Mutation_p.Q241*	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	596					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCACTCAAACCAATTCACCCA	0.607000														88			27		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10893729	10893729	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:10893729C>T	uc002mpt.2	+	5	972	c.782C>T	c.(781-783)tCc>tTc	p.S261F	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.S261F|DNM2_uc010dxl.2_Missense_Mutation_p.S261F|DNM2_uc002mpu.2_Missense_Mutation_p.S261F|DNM2_uc002mpv.2_Missense_Mutation_p.S261F|DNM2_uc002mpw.3_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	261					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TTCTTCCTCTCCCACCCGGCC	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL									52			10		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137671962	137671962	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:137671962C>T	uc004cfe.3	+	27	2782	c.2400C>T	c.(2398-2400)atC>atT	p.I800I		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	800	Triple-helical region.				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)		CCGATGGCATCCGTGGTCTGA	0.597000														71			27		0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43941499	43941499	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:43941499A>T	uc001mxs.2	+	9	1243	c.800A>T	c.(799-801)gAa>gTa	p.E267V	ALKBH3_uc009ykp.2_Non-coding_Transcript|ALKBH3_uc001mxt.2_Non-coding_Transcript|LOC100507300_uc001mxu.2_Intron	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	Homo sapiens alkB, alkylation repair homolog 3 (E. coli) (ALKBH3), mRNA.	267	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	DNA-N1-methyladenine dioxygenase activity|L-ascorbic acid binding|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CACTCTAGAGAACCGAGAGTG	0.458000								Direct reversal of damage						75			26		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073119	15073119	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15073119G>A	uc002naa.1	-	4	637	c.630C>T	c.(628-630)acC>acT	p.T210T	SLC1A6_uc010dzu.1_Silent_p.T210T|SLC1A6_uc010xod.1_Silent_p.T146T|SLC1A6_uc002nab.3_Silent_p.T210T|SLC1A6_uc002nac.3_Silent_p.T210T	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	210					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCTCACCATGGTCCTGGTTA	0.542000														84			23		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:10435015C>T	uc010coi.3	-	21	2760	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E878K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E878G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCAGTTCCTTCCTTTTT	0.423000														52			17		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924718	188924718	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:188924718G>A	uc003izh.1	+	3	1165	c.757G>A	c.(757-759)Gga>Aga	p.G253R	ZFP42_uc003izi.1_Missense_Mutation_p.G253R|ZFP42_uc021xvm.1_Missense_Mutation_p.G253R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	253					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGAAGGGTGCGGAAAGCGCTT	0.507000														45			9		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230273	36230273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:36230273G>A	uc003gsq.2	-	1	1174	c.836C>T	c.(835-837)tCt>tTt	p.S279F	ARAP2_uc003gsr.1_Missense_Mutation_p.S279F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	279					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.P278P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAAAGATCGAGATGGTCTTGA	0.388000														58			16		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18432754	18432754	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:18432754C>T	uc003wza.3	-	12	2626	c.2523G>A	c.(2521-2523)ttG>ttA	p.L841L	PSD3_uc003wyx.4_Silent_p.L170L|PSD3_uc003wyy.3_Silent_p.L307L|PSD3_uc003wyz.3_Silent_p.L142L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	842	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGCGTTTTTCAAGTCCTCTT	0.418000														58			18		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519645	23519645	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:23519645G>T	uc001bgn.3	-	0	1578	c.1068C>A	c.(1066-1068)taC>taA	p.Y356*		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	356					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TAAACACAGTGTAGATTATTG	0.468000														104			27		4.43304e-23	4.51009e-23	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862234	5862234	+	Silent	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:5862234T>C	uc010qzq.2	-	0	894	c.894A>G	c.(892-894)aaA>aaG	p.K298K	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTAATATGTTTGGTTCTGA	0.428000														73			15		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047452	73047452	+	RNA	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:73047452G>A	uc004ebn.2	+	0		c.35413G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AATTTAAAACGAACGAGAAGG	0.393000														4			4		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162117	29162117	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:29162117C>T	uc002hfs.1	+	1	1361	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	ATAD5_uc002hft.1_Missense_Mutation_p.P237S	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	340					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGGAAAATACCCCGAATTTT	0.368000														52			12		0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220820	20220820	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:20220820A>T	uc001umh.3	+	2	708	c.607A>T	c.(607-609)Att>Ttt	p.I203F	MPHOSPH8_uc001umg.3_Missense_Mutation_p.I203F|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	203	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAAGAAAAGAATTTCTGAAGC	0.343000														13			8		0	0	1	0	0
C3orf35	339883	broad.mit.edu	37	3	37458885	37458885	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:37458885G>A	uc003cha.4	+	4	792	c.128G>A	c.(127-129)gGa>gAa	p.G43E	C3orf35_uc003chb.3_Missense_Mutation_p.G43E|C3orf35_uc021wvg.1_Missense_Mutation_p.G43E	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN	Homo sapiens chromosome 3 open reading frame 35 (C3orf35), transcript variant B, mRNA.	43						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTAACACATGGAATAATAAAC	0.458000														91			18		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23712415	23712415	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:23712415C>T	uc002dma.4	-	11	1537	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Silent_p.E264E	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	408					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAAAGTTTCTCTCGGCTCA	0.547000														66			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179494158	179494158	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179494158C>T	uc021vsy.1	-	188	36815	c.36590G>A	c.(36589-36591)gGt>gAt	p.G12197D	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5892D|TTN_uc021vta.1_Missense_Mutation_p.G5825D|TTN_uc021vtb.1_Missense_Mutation_p.G5700D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13124	Ig-like 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAGAAGACCAATTACTCG	0.438000														63			11		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74353459	74353459	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:74353459T>A	uc003hhb.3	+	5	665	c.634T>A	c.(634-636)Tat>Aat	p.Y212N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	212	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCACACAATATTTAAAAGC	0.294000														28			10		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113858523	113858523	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:113858523T>G	uc003ebd.2	-	5	970	c.547A>C	c.(547-549)Atc>Ctc	p.I183L	DRD3_uc010hqn.1_Missense_Mutation_p.I183L|DRD3_uc003ebb.1_Missense_Mutation_p.I183L|DRD3_uc003ebc.1_Missense_Mutation_p.I183L	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	183					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGGTTGGAGATGGAGCAGACA	0.488000														73			20		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183050710	183050710	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:183050710G>A	uc002uos.3	-	13	1557	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	PDE1A_uc010zfp.1_Silent_p.S387S|PDE1A_uc002uoq.1_Silent_p.S491S|PDE1A_uc010zfq.1_Silent_p.S491S|PDE1A_uc002uor.3_Silent_p.S475S|PDE1A_uc002uou.3_Silent_p.S457S	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	491	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTGCTGCAAGGGAGTAGTCTG	0.468000														54			24		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188245205	188245205	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:188245205C>T	uc010frt.3	-	5	780	c.397G>A	c.(397-399)Gag>Aag	p.E133K	CALCRL_uc002upv.4_Missense_Mutation_p.E133K	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	133						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTCACTTTCTCGTGGGTGTTA	0.338000														56			26		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30664424	30664424	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:30664424G>A	uc002dyy.3	+	5	762	c.504_splice	c.e5+1	p.E168_splice	PRR14_uc002dyz.3_Splice_Site_p.E13_splice|PRR14_uc002dza.3_Splice_Site_p.E168_splice|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	168	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCCCGCTGAGGTATGGGAAC	0.607000														19			10		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82095970	82095970	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:82095970C>T	uc003hmh.2	-	1	618	c.605G>A	c.(604-606)gGa>gAa	p.G202E	PRKG2_uc011cch.1_Missense_Mutation_p.G202E	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	202					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.G202E(3)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GATATGGTTTCCTGGTTCTCC	0.368000														71			27		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43217136	43217136	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:43217136G>A	uc002lbe.3	+	5	1648	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SLC14A2_uc002lbb.3_Missense_Mutation_p.E278K|SLC14A2_uc010dnj.3_Missense_Mutation_p.E278K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	278						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAGAGATGGAAATGCCCCT	0.517000														57			21		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112043145	112043145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:112043145C>T	uc001ebh.4	-	1	1151	c.384G>A	c.(382-384)tgG>tgA	p.W128*	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	128					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCAGGGCCAGCCATATTCTTC	0.507000														77			21		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444480	50444480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:50444480G>A	uc003tow.4	+	3	565	c.410G>A	c.(409-411)aGa>aAa	p.R137K	IKZF1_uc022acq.1_Missense_Mutation_p.R137K|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Missense_Mutation_p.R137K|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Missense_Mutation_p.R137K|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Missense_Mutation_p.R137K|IKZF1_uc003toz.4_Missense_Mutation_p.R107K|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	137					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GTTCACAAAAGAAGCCACACT	0.488000			"""D,T"""	BCL6	"""ALL, DLBCL"""									32			23		0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43656271	43656271	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:43656271G>A	uc001zrk.1	-	3	1679	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F	ZSCAN29_uc001zrj.1_Missense_Mutation_p.S391F|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Intron|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_3'UTR	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	511					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACGGGGCAAGAAGCAGTCTC	0.557000														65			19		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16264444	16264444	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:16264444C>T	uc001axk.1	+	12	10851	c.10647C>T	c.(10645-10647)atC>atT	p.I3549I	SPEN_uc010obp.1_Silent_p.I3508I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3549	SPOC.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACTAAGGATCGCCCAGAGGA	0.617000														80			17		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868662	97868662	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:97868662T>A	uc003dsg.1	+	0	433	c.433T>A	c.(433-435)Tta>Ata	p.L145I		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATCCGGCTATTAATCTTGTC	0.373000														144			9		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729970	41729970	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:41729970C>T	uc003thq.3	-	1	794	c.559G>A	c.(559-561)Gac>Aac	p.D187N	INHBA_uc003thr.3_Missense_Mutation_p.D187N	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	187					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCCCCTGTGTCCAAGCTGCCC	0.562000										TSP Lung(11;0.080)				68			29		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27911627	27911627	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:27911627C>T	uc002rlk.4	+	11	2546	c.2264C>T	c.(2263-2265)cCa>cTa	p.P755L		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	755						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ACACCTGGTCCAGGCAAAGTA	0.353000														27			4		0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301950	191301950	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:191301950G>A	uc002urz.2	+	2	1519	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	399					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTTCAAAAACGATGATTCTAA	0.512000														33			10		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235485	8235485	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:8235485G>A	uc003wsh.4	-	1	434	c.434C>T	c.(433-435)cCc>cTc	p.P145L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	145							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAGGTAGAGGGACCAGCAGG	0.632000														98			17		0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	855735	855735	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:855735C>G	uc002lqb.3	+	3	576	c.538C>G	c.(538-540)Ctc>Gtc	p.L180V		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	180	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGTGACGTCCCTCTGCCGTCG	0.687000														120			28		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546056	82546056	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82546056C>T	uc003uhx.2	-	6	11535	c.11246G>A	c.(11245-11247)aGa>aAa	p.R3749K	PCLO_uc003uhv.2_Missense_Mutation_p.R3749K|PCLO_uc010lec.3_Missense_Mutation_p.R714K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3680					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGATCCTTCTCCTGGAAAC	0.468000														78			17		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287294	35287294	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:35287294C>T	uc001mwd.3	-	9	2025	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	SLC1A2_uc021qfx.1_Missense_Mutation_p.R469K|SLC1A2_uc001mwe.3_Missense_Mutation_p.R469K|SLC1A2_uc010rev.1_Missense_Mutation_p.R478K	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	478					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GACTGAAGTTCTCATCCTGTC	0.488000														40			13		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110818504	110818504	+	Missense_Mutation	SNP	G	A	A	rs143584280	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:110818504G>A	uc003kpf.3	+	9	1085	c.850G>A	c.(850-852)Gat>Aat	p.D284N	CAMK4_uc010jbv.3_Missense_Mutation_p.D87N|CAMK4_uc003kpg.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	284	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AATTGTTTTGGATCCAAAGAA	0.418000														70			16		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749143	43749143	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:43749143G>A	uc001zrs.3	-	11	1796	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	TP53BP1_uc010udp.2_Missense_Mutation_p.P550S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P555S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P555S|TP53BP1_uc010udq.1_Missense_Mutation_p.P555S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	550					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGAGACATGGGTTCCGTATCC	0.408000								Other conserved DNA damage response genes						32			13		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25831751	25831751	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:25831751C>T	uc003gru.4	-	5	1278	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	376						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTTCAAATCCTGTCCAATG	0.388000														19			9		0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66834233	66834233	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:66834233G>T	uc001ojv.3	+	2	330	c.245G>T	c.(244-246)cGg>cTg	p.R82L		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	82					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						GACCGCCTGCGGCCCCTGTTC	0.607000														185			50		1.4374e-25	1.46388e-25	1	1	0
SPCS1	28972	broad.mit.edu	37	3	52741807	52741807	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52741807G>A	uc011bei.2	+	3	694	c.489G>A	c.(487-489)aaG>aaA	p.K163K	GLT8D1_uc003dfk.3_5'Flank|GLT8D1_uc003dfl.3_5'Flank|GLT8D1_uc003dfm.3_5'Flank|GLT8D1_uc003dfn.3_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	Homo sapiens signal peptidase complex subunit 1 homolog (S. cerevisiae) (SPCS1), mRNA.	163					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GAAAAATTAAGAGGCATGCTA	0.423000														115			29		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756648	122756649	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:122756648_122756649GG>AA	uc004etu.3	-	29	3777_3778	c.3745_3746CC>TT	c.(3745-3747)cct>TTt	p.P1249F	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.P70F	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1249					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATTCCCTTTAGGTGTGGTACTA	0.337000														15			15		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41006661	41006661	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:41006661C>T	uc002ibv.3	+	1	1957	c.1797C>T	c.(1795-1797)caC>caT	p.H599H		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	599					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTGGGGTCACCCCCGGGGCT	0.647000														43			9		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192669	152192669	+	Missense_Mutation	SNP	G	A	A	rs139476726		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152192669G>A	uc001ezt.1	-	2	1512	c.1436C>T	c.(1435-1437)aCt>aTt	p.T479I		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	479					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGCTGAGTGTAACCAGA	0.542000														271			54		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545906	82545906	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82545906C>T	uc003uhx.2	-	6	11685	c.11396G>A	c.(11395-11397)cGa>cAa	p.R3799Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3799Q|PCLO_uc010lec.3_Missense_Mutation_p.R764Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3730	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCAGGTATCGTAGCTTAGC	0.443000														57			13		0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29064829	29064829	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:29064829C>T	uc021okf.1	+	3	374	c.111C>T	c.(109-111)taC>taT	p.Y37Y	YTHDF2_uc001brc.3_Silent_p.Y37Y|YTHDF2_uc010ofx.2_5'UTR|YTHDF2_uc001bre.3_5'UTR	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	37					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTGAACCTTACTTGAGTCCAC	0.363000														38			11		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665255	157665255	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:157665255C>T	uc001fqz.4	-	7	1567	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.G151G|FCRL3_uc001frb.3_Silent_p.G425G|FCRL3_uc001frc.1_Silent_p.G425G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	425	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGAGCTGTTCCCCAGGGTGA	0.577000														121			59		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70732604	70732604	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:70732604G>A	uc002ezm.3	-	14	2030	c.1772C>T	c.(1771-1773)aCc>aTc	p.T591I	VAC14_uc010cfw.3_Missense_Mutation_p.T357I|VAC14_uc002ezn.3_Missense_Mutation_p.T156I|VAC14_uc002ezl.3_Missense_Mutation_p.T23I|VAC14_uc010cfx.1_Missense_Mutation_p.T69I	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	591					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CAGCAGGATGGTGTTGAGGGC	0.592000														82			18		0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88706248	88706248	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:88706248C>T	uc002fla.3	+	2	411	c.362C>T	c.(361-363)cCa>cTa	p.P121L		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	121					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GACCGCTATCCACAGAAGCTG	0.672000														4			3		0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267713	66267713	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:66267713G>A	uc002jha.2	-	5	901	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Silent_p.F196F	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	196						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.I195I(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCAGTGCTCCGAAGATGACAA	0.478000														42			11		0	0	1	0	0
FTSJD2	23070	broad.mit.edu	37	6	37443126	37443126	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:37443126C>T	uc003ons.3	+	18	2227	c.1974C>T	c.(1972-1974)atC>atT	p.I658I		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	658					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TCAGTGCCATCCACATCCTCG	0.602000														15			4		0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1270987	1270987	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:1270987G>A	uc002lrr.4	+	1	204	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CIRBP-AS1_uc010xgk.2_5'Flank|CIRBP_uc010dsg.1_Missense_Mutation_p.M1I|CIRBP_uc010xgl.1_Missense_Mutation_p.E19K|CIRBP_uc021umi.1_5'Flank	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	Homo sapiens cold inducible RNA binding protein (CIRBP), transcript variant 1, mRNA.	19	RRM.				mRNA stabilization|positive regulation of translation|response to UV|response to cold|stress granule assembly	nucleoplasm|stress granule	SSU rRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		tgacaccaatgaGCAGTCGCT	0.577000														196			58		0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														32			3		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207559598	207559598	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:207559598G>A	uc002vbr.1	-	7	840	c.723C>T	c.(721-723)taC>taT	p.Y241Y		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	241			Y -> C (in dbSNP:rs16838593).			plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCAGACAGCGGTATCTGCCAG	0.393000														46			11		0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766703	27766703	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:27766703G>A	uc011mjy.2	+	0	1778	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AAGTGGGAACGAGATGAAGAC	0.507000														5			6		0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73815766	73815766	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:73815766G>A	uc002jpm.3	+	13	1775	c.1775_splice	c.e13-1	p.E592_splice	UNK_uc021udd.1_Splice_Site_p.E516_splice	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	516							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCCCTAGAGTCTGCTTTGG	0.577000														52			20		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169129343	169129343	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:169129343A>G	uc003maf.3	+	13	1375	c.1295A>G	c.(1294-1296)cAa>cGa	p.Q432R	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_5'Flank|DOCK2_uc010jjl.1_5'UTR	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	432	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.Q432Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTCTTACAAGGTGACTTT	0.493000											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			22		0	0	1	0	0
ZNF642	339559	broad.mit.edu	37	1	40945130	40945130	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:40945130G>A	uc010ojk.2	+	1	391	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ZNF642_uc001cfo.3_Missense_Mutation_p.E33K|ZNF642_uc009vwb.3_Missense_Mutation_p.E33K	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	33	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W32fs*4(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			GCCCCTGTGGGAGGATGTGAC	0.537000														29			8		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911187	38911187	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:38911187C>T	uc002hve.3	-	0	398	c.337G>A	c.(337-339)Ggc>Agc	p.G113S		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	113	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCATACCAGCCCTTGATCTTC	0.488000														104			23		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029504	93029504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:93029504G>A	uc022axs.1	-	2	540	c.353C>T	c.(352-354)cCc>cTc	p.P118L	RUNX1T1_uc003yfc.2_Missense_Mutation_p.P32L|RUNX1T1_uc010mam.3_Missense_Mutation_p.P32L|RUNX1T1_uc003yfe.2_Missense_Mutation_p.P22L|RUNX1T1_uc003yfd.3_Missense_Mutation_p.P59L|RUNX1T1_uc022axo.1_Missense_Mutation_p.P59L|RUNX1T1_uc010mao.3_Missense_Mutation_p.P32L|RUNX1T1_uc011lgi.2_Missense_Mutation_p.P70L|RUNX1T1_uc022axp.1_Missense_Mutation_p.P59L|RUNX1T1_uc022axq.1_Missense_Mutation_p.P59L|RUNX1T1_uc022axr.1_Missense_Mutation_p.P59L|RUNX1T1_uc022axt.1_Missense_Mutation_p.P59L|RUNX1T1_uc022axu.1_Missense_Mutation_p.P39L|RUNX1T1_uc022axv.1_Missense_Mutation_p.P59L|RUNX1T1_uc003yfb.2_Missense_Mutation_p.P22L|RUNX1T1_uc003yff.1_Missense_Mutation_p.P22L|RUNX1T1_uc003yfg.2_Missense_Mutation_p.P22L	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	59					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L118L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTAGTTGGGGGAGGTGGCAT	0.453000														61			16		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959937	73959937	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:73959937C>T	uc004eby.3	-	2	5072	c.4455G>A	c.(4453-4455)ctG>ctA	p.L1485L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1485					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTATTACCTCAGTTTTTCAA	0.478000														15			6		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843757	215843757	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:215843757T>C	uc002vew.3	-	31	4968	c.4748A>G	c.(4747-4749)aAt>aGt	p.N1583S	ABCA12_uc002vev.3_Missense_Mutation_p.N1265S|ABCA12_uc010zjn.2_Missense_Mutation_p.N510S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1583					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P1582S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCATTTAAATTTGGACTCTA	0.448000														59			11		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098794	133098794	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:133098794C>T	uc003epi.3	+	3	509	c.239C>T	c.(238-240)cCc>cTc	p.P80L	TMEM108_uc003eph.3_Missense_Mutation_p.P80L|TMEM108_uc003epj.1_Missense_Mutation_p.P80L|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	80	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTGCAGCTCCCATGGCAACA	0.622000														85			30		0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66792663	66792663	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:66792663G>A	uc002apv.3	-	7	950	c.885C>T	c.(883-885)agC>agT	p.S295S	SNAPC5_uc002apu.1_5'Flank|RPL4_uc002apx.3_Silent_p.S201S	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	295					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GGATCTCTGGGCTTTTCAAGA	0.383000														56			10		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160031622	160031622	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:160031622C>T	uc002uag.3	+	11	1936	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	TANC1_uc010fol.1_Silent_p.L448L|TANC1_uc010zcm.2_Silent_p.L546L|TANC1_uc010fom.1_Silent_p.L360L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	554						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGAGCCTCCGATCCTGTG	0.582000														83			24		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69400281	69400281	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:69400281G>A	uc010lyz.3	+	4	1051	c.760G>A	c.(760-762)Gat>Aat	p.D254N	C8orf34_uc010lyy.2_Missense_Mutation_p.D254N|C8orf34_uc003xyb.3_Missense_Mutation_p.D143N	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	168					signal transduction		cAMP-dependent protein kinase regulator activity	p.M254I(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGATGAACTCGATAAGGTAAG	0.274000														14			3		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105419	168105419	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:168105419G>A	uc002udx.3	+	8	7606	c.7517G>A	c.(7516-7518)gGa>gAa	p.G2506E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G2331E|XIRP2_uc010fpq.3_Missense_Mutation_p.G2284E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2331					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGTTCCAGGAACTTCAGCA	0.378000														73			16		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25337599	25337599	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:25337599C>T	uc003xep.1	+	7	1468	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.L331L|CDCA2_uc003xeq.1_Silent_p.L316L|CDCA2_uc003xer.1_5'UTR	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	331					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCGTTCTGTACTGAAGAAACC	0.448000														33			5		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449339	91449339	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:91449339G>A	uc001tbl.3	-	1	1339	c.720C>T	c.(718-720)gcC>gcT	p.A240A		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	240					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTCTCAAAAAGGCCACTTTAG	0.368000														71			21		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55441955	55441955	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:55441955G>A	uc002qih.4	-	8	2798	c.2722C>T	c.(2722-2724)Ctg>Ttg	p.L908L	NLRP7_uc010esk.3_Silent_p.L908L|NLRP7_uc002qig.4_Silent_p.L880L|NLRP7_uc002qii.4_Silent_p.L908L|NLRP7_uc010esl.3_Silent_p.L936L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	908							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAAGTCCAGGTTTGTGAGG	0.458000														69			41		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526385	84526385	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:84526385C>T	uc004eeq.3	+	9	2861	c.1975C>T	c.(1975-1977)Cat>Tat	p.H659Y	ZNF711_uc004eep.3_Missense_Mutation_p.H613Y|ZNF711_uc004eeo.3_Missense_Mutation_p.H613Y|ZNF711_uc011mqy.1_Missense_Mutation_p.H212Y	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	613					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CATATCTGTCCATACTAAGGA	0.413000														7			7		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8157353	8157353	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:8157353T>C	uc002gkr.3	+	1	239	c.98T>C	c.(97-99)cTg>cCg	p.L33P	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	33					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGCCAGAGCTGCAGGGCGTC	0.587000														37			20		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32636331	32636331	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:32636331C>A	uc010ogy.2	+	13	1489	c.1462C>A	c.(1462-1464)Cag>Aag	p.Q488K	KPNA6_uc001bug.3_Missense_Mutation_p.Q483K|KPNA6_uc001buh.3_Missense_Mutation_p.Q258K|KPNA6_uc010ogx.2_Missense_Mutation_p.Q480K	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	483					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGTTTCTCCAGAGCCACGA	0.468000														66			16		2.35188e-11	2.38059e-11	1	1	0
SIRPD	128646	broad.mit.edu	37	20	1517819	1517819	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:1517819G>C	uc002wfi.3	-	2	603	c.559C>G	c.(559-561)Cgg>Ggg	p.R187G		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	187						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CCCAGCAGCCGGAGGCAGCAG	0.612000														74			17		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73900302	73900302	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:73900302G>A	uc011dyh.2	+	12	1988	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	KCNQ5_uc011dyi.2_Missense_Mutation_p.M538I|KCNQ5_uc010kat.3_Missense_Mutation_p.M519I|KCNQ5_uc003pgk.3_Missense_Mutation_p.M528I|KCNQ5_uc011dyj.2_Missense_Mutation_p.M418I|KCNQ5_uc011dyk.2_Missense_Mutation_p.M278I	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	528					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACAGAATTATGAAATTTCATG	0.294000														7			5		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1466297	1466297	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:1466297T>A	uc002lsr.1	+	14	3205	c.2997T>A	c.(2995-2997)taT>taA	p.Y999*	APC2_uc002lss.1_Nonsense_Mutation_p.Y581*|APC2_uc002lst.1_Nonsense_Mutation_p.Y999*|APC2_uc002lsu.1_Nonsense_Mutation_p.Y998*|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	999					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTACCTATCAGCACGTGC	0.726000														14			8		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574594	169574594	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:169574594C>T	uc003fgc.1	-	3	619	c.554G>A	c.(553-555)gGa>gAa	p.G185E	LRRC31_uc010hwp.1_Missense_Mutation_p.G129E	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	185								p.G185V(2)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AGGCAAATTTCCTCCCACTTT	0.418000														83			19		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454823	33454823	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:33454823G>A	uc003xjp.3	-	1	544	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	DUSP26_uc003xjq.3_Missense_Mutation_p.L71F	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	71	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGGTCTCCGAGATAGAGGCCT	0.552000														13			6		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441472	37441472	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:37441472C>G	uc002ofc.3	+	6	1935	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.P472A|ZNF568_uc002ofd.3_Missense_Mutation_p.P409A|ZNF568_uc010efe.3_Missense_Mutation_p.P409A|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAGAGAAACCTTATGAATG	0.398000														48			19		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520456	176520456	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:176520456G>A	uc003mfl.3	+	9	1468	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	FGFR4_uc003mfm.3_Missense_Mutation_p.R434Q|FGFR4_uc011dfu.2_Missense_Mutation_p.E383K|FGFR4_uc003mfo.3_Missense_Mutation_p.R394Q	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	434					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.R394Q(1)|p.R434Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TCCCTGGTACGAGGCGTGCGT	0.617000										TSP Lung(9;0.080)				145			32		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:102183090C>T	uc003dvt.1	+	6	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_uc003dvs.1_Silent_p.F252F|ZPLD1_uc011bhg.1_Silent_p.F252F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	252	ZP.					integral to membrane		p.F268Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000														68			19		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120007815	120007815	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:120007815C>T	uc011muc.2	-	1	1090	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	279										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTTTCTCTTCCTCGCCTGCA	0.458000														171			139		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880459	15880459	+	RNA	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15880459G>A	uc002nbo.3	-	7		c.1236C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CAGTGCTCCTGGTATTCTGGG	0.597000														56			9		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417539	150417539	+	Silent	SNP	C	T	T	rs150494282	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:150417539C>T	uc003whq.3	+	2	587	c.447C>T	c.(445-447)atC>atT	p.I149I	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGATGGTCATCGTCTTCACCA	0.642000														100			19		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256817	240256817	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:240256817C>T	uc010pye.2	+	0	1633	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	FMN2_uc010pyd.2_Missense_Mutation_p.R470W	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	470					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAGAAGCACCGGGCCGACGG	0.736000														26			5		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78770709	78770709	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:78770709G>A	uc002bdr.2	+	9	1428	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	IREB2_uc010unb.1_Silent_p.Q172Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	422							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAAATGACCAGAATTCTTCAG	0.383000														30			11		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200906	3200906	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:3200906G>A	uc022aqr.1	-	22	3931	c.3541C>T	c.(3541-3543)Ctg>Ttg	p.L1181L	CSMD1_uc011kwj.2_Silent_p.L574L|CSMD1_uc003wqe.3_Silent_p.L338L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1182	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTAGGATCAGCCCCAGAAGT	0.448000														36			8		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345013	20345013	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:20345013G>A	uc001vwh.1	+	0	587	c.587G>A	c.(586-588)gGc>gAc	p.G196D		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATGTTCTGGGCCTCTTTATG	0.413000														172			34		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8604875	8604875	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:8604875C>T	uc002mkg.3	-	15	1786	c.1648G>A	c.(1648-1650)Gga>Aga	p.G550R		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	550	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTCTTGTCTCCATCCAGCTTC	0.627000														46			12		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402202	50402202	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:50402202G>A	uc003daq.3	-	38	3386	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	CACNA2D2_uc003dap.3_Silent_p.F1109F	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	1116					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCGACGGCGGGAAGGAGGCCC	0.721000														15			3		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478547	1478547	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:1478547G>A	uc003skj.4	-	9	2198	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	MICALL2_uc003ski.4_Missense_Mutation_p.P171L	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	684						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTGGCCAGGGGGCTCCGGCCG	0.672000														70			16		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453617	74453617	+	Missense_Mutation	SNP	G	A	A	rs142555062		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:74453617G>A	uc003hhd.1	-	4	541	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	RASSF6_uc003hhc.1_Missense_Mutation_p.R108C|RASSF6_uc010iik.1_Missense_Mutation_p.R108C|RASSF6_uc010iil.1_Missense_Mutation_p.R96C	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	140					apoptosis|signal transduction		protein binding	p.R140C(2)|p.R140H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCACTAATACGATAGAGATCG	0.383000														54			15		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922010	190922010	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:190922010C>T	uc002urp.3	-	2	1235	c.1102G>A	c.(1102-1104)Gta>Ata	p.V368I		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	368					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CGGTCTACTACCATCGCTGGA	0.378000														37			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38945959	38945959	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:38945959G>A	uc002oit.3	+	13	1655	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RYR1_uc002oiu.3_Missense_Mutation_p.E509K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	509					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCAGGGGAGGAGGCAGCCGA	0.532000														75			18		0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832378	39832378	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:39832378G>A	uc010ggg.1	-	0	1329	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	ZHX3_uc002xjr.1_Silent_p.T393T|ZHX3_uc002xjs.1_Silent_p.T393T|ZHX3_uc002xjt.1_Silent_p.T393T|ZHX3_uc002xju.1_Silent_p.T393T|ZHX3_uc002xjv.1_Silent_p.T393T|ZHX3_uc002xjw.1_Silent_p.T393T	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	393	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACGAGTGGGGTATTTAGAA	0.562000														69			14		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47863846	47863846	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:47863846G>A	uc002xui.3	-	13	5962	c.5715C>T	c.(5713-5715)gcC>gcT	p.A1905A		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1905							metal ion binding	p.T1904T(1)|p.T1904M(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAGGTTGTTGGCCGTGTCAG	0.522000														79			21		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229239	8229240	+	Silent	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:8229239_8229240CC>TT	uc003gkv.4	+	11	1919_1920	c.1818_1819CC>TT	c.(1816-1821)aacctg>aaTTtg	p.606_607NL>NL	SH3TC1_uc003gkw.4_Silent_p.530_531NL>NL|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	606							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGTACGCCAACCTGGCCAGCAT	0.634000														150			26		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558578	52558578	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52558578G>A	uc003den.3	-	13	1622	c.1582C>T	c.(1582-1584)Ccg>Tcg	p.P528S	NT5DC2_uc003dem.3_Missense_Mutation_p.P361S|NT5DC2_uc010hmi.3_Missense_Mutation_p.P503S|NT5DC2_uc010hmj.3_Missense_Mutation_p.P307S|NT5DC2_uc003deo.3_Missense_Mutation_p.P491S	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	491							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGCTGCAGCGGCGTACGGCGT	0.632000														65			15		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419837	41419837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:41419837G>A	uc002xkg.3	-	2	668	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.Q162*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	162	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCCATACCTGATAGAAATGT	0.468000														143			36		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133954044	133954044	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:133954044G>A	uc001lkx.4	+	8	1434	c.1434G>A	c.(1432-1434)acG>acA	p.T478T		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGACAGGACGGACCAGACCC	0.612000														8			3		0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211082779	211082779	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:211082779C>T	uc002vdz.4	-	2	509	c.281G>A	c.(280-282)gGa>gAa	p.G94E	ACADL_uc010zjg.1_Missense_Mutation_p.G94E	NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	94					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCCTTGTTTTCCAGCTTTTTC	0.388000														54			8		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642192	207642192	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:207642192G>A	uc001hfw.3	+	3	801	c.682G>A	c.(682-684)Gag>Aag	p.E228K	CR2_uc001hfv.3_Missense_Mutation_p.E228K|CR2_uc009xch.3_Missense_Mutation_p.E228K|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	228	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGGTAAAGGAGCCTCCAAT	0.408000														52			33		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118173	118173	+	RNA	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrGL000205.1:118173A>G	uc002kgk.4	+	0		c.1551A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGATCCGCCAAGCCATCATA	0.493000														17			5		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128688	103128688	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:103128688C>T	uc002tbz.4	+	6	1972	c.1515C>T	c.(1513-1515)atC>atT	p.I505I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	505					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGCTGGAATCGAAGATGTGT	0.463000														98			22		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81234615	81234615	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:81234615G>A	uc002bfw.1	+	25	3896	c.3636G>A	c.(3634-3636)gaG>gaA	p.E1212E	KIAA1199_uc010unn.1_Silent_p.E1212E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1212										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTTCTTGGAGGTGAAGATGG	0.483000														74			23		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51395391	51395391	+	Splice_Site	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:51395391G>T	uc011bds.2	+	46	4791	c.4768_splice	c.e46-1	p.V1590_splice		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1590	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GACTCTGATAGGTTCATGTCC	0.493000														63			9		4.68919e-08	4.7272e-08	1	1	0
VWA3A	146177	broad.mit.edu	37	16	22132392	22132392	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:22132392C>T	uc010vbq.2	+	12	1316	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.S394F	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	407						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GACAAGACTTCTGCAGAGTGG	0.493000														73			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076401	9076401	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9076401C>T	uc002mkp.3	-	2	11249	c.11045G>A	c.(11044-11046)aGg>aAg	p.R3682K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3683	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGCTCATCCTCTGGACACG	0.433000														57			18		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333466	70333467	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:70333466_70333467GG>AA	uc001oqc.3	-	20	2845_2846	c.2733_2734CC>TT	c.(2731-2736)ttccgc>ttTTgc	p.R912C	SHANK2_uc010rqn.2_Missense_Mutation_p.R388C|SHANK2_uc001opz.3_Missense_Mutation_p.R383C|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	599					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTCTTGTTGCGGAAGTTGGCTT	0.594000														155			43		0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20978835	20978836	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:20978835_20978836GT>AG	uc001vxp.2	+	1	693_694	c.289_290GT>AG	c.(289-291)gtg>AGg	p.V97R	RNASE10_uc010tlj.2_Missense_Mutation_p.V69R	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	69						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AGAAACGCTGGTGCTTAGCAAC	0.540000														58			21		0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561250	29561250	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:29561250C>T	uc001zco.3	-	0	771	c.660G>A	c.(658-660)aaG>aaA	p.K220K	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	Homo sapiens necdin-like 2 (NDNL2), mRNA.	220	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAATGAGTTTCTTTGGATCTC	0.527000														67			16		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4903027	4903027	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:4903027G>T	uc002cyb.3	+	1	448	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	UBN1_uc010uxw.2_Missense_Mutation_p.D37Y|UBN1_uc002cyc.3_Missense_Mutation_p.D37Y	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	37	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ACAGCATCAGGACTGTGAGCC	0.562000														70			12		7.93312e-07	7.98125e-07	1	1	0
RGPD4	285190	broad.mit.edu	37	2	108489172	108489172	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:108489172G>A	uc010ywk.2	+	19	4794	c.4712G>A	c.(4711-4713)gGa>gAa	p.G1571E	RGPD4_uc002tdu.3_Missense_Mutation_p.G758E|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1571					intracellular transport		binding	p.G1571A(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTTTGTTTGGATTTAGTTTT	0.348000														210			51		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828952	76828952	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:76828952C>T	uc003ugb.3	-	0	199	c.159G>A	c.(157-159)ggG>ggA	p.G53G	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	53			G -> E (in dbSNP:rs2075761).		signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AGGGGCACTCCCCTGCCTCTT	0.498000														128			26		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459983	107459983	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:107459983G>A	uc002tdq.3	-	1	570	c.451C>T	c.(451-453)Cct>Tct	p.P151S	ST6GAL2_uc002tdr.3_Missense_Mutation_p.P151S|ST6GAL2_uc002tds.3_Missense_Mutation_p.P151S	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	151					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCGGGGGAAGGGAATCCCAAT	0.607000														181			30		0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859625	38859625	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:38859625C>T	uc002hvd.3	-	0	378	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	107	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ATCTAGAACTCCCACAGAATC	0.567000														149			45		0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44520618	44520618	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:44520618C>T	uc002xqh.3	+	2	686	c.312C>T	c.(310-312)ccC>ccT	p.P104P	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_Silent_p.P86P|CTSA_uc010zxi.2_Silent_p.P104P|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	86					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ATGGGGGTCCCGGCTGCAGCT	0.607000											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			16		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865714	57865714	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:57865714C>T	uc001snx.3	+	11	3285	c.3191C>T	c.(3190-3192)tCc>tTc	p.S1064F	GLI1_uc021qzi.1_Missense_Mutation_p.S1023F|GLI1_uc009zpq.3_Missense_Mutation_p.S936F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1064					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.P1063T(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTCCTCCTTCCCATGATCAG	0.577000														152			39		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35715112	35715112	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:35715112C>T	uc003ola.3	+	3	627	c.600C>T	c.(598-600)ctC>ctT	p.L200L	ARMC12_uc003olb.1_Silent_p.L173L	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	173							binding										GCCTCAGACTCCTCAACAACC	0.557000														84			18		0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931906	109931906	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:109931906G>A	uc004eou.4	-	8	1253	c.904C>T	c.(904-906)Cac>Tac	p.H302Y	CHRDL1_uc004eov.3_Missense_Mutation_p.H296Y|CHRDL1_uc004eow.3_Missense_Mutation_p.H301Y|CHRDL1_uc010nps.3_Missense_Mutation_p.H301Y|CHRDL1_uc011mss.2_Missense_Mutation_p.H222Y	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	295	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGGGCAGTGGATTTTCTTA	0.478000														56			34		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155630	111155630	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:111155630C>T	uc004epl.1	-	2	1708	c.789G>A	c.(787-789)agG>agA	p.R263R	TRPC5_uc004epm.1_Silent_p.R263R	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	263					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTCCAGTTCCCTGGAGCTCC	0.522000														49			47		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608267	28608267	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:28608267A>T	uc001urw.3	-	13	1871	c.1789T>A	c.(1789-1791)Tat>Aat	p.Y597N	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.Y597N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.E596_Y597ins12(6)|p.Y597_E598ins26(4)|p.E596_Y597ins22(2)|p.Y597_E598ins18(2)|p.R595_E596insDFYVDFR(1)|p.R595_E596ins12(1)|p.R595_E596ins13(1)|p.R595_E596ins17(1)|p.R595_E596insEDREHHVDFR(1)|p.R595_E596insNEYFYVDFR(1)|p.Y597_E598insEYFYVDFREY(1)|p.R595_E596insDNEYFYVDFR(1)|p.E596_Y597ins23(1)|p.E596_Y597insYVDFRE(1)|p.Y597_E598ins17(1)|p.Y597_E598ins13(1)|p.E596_Y597ins25(1)|p.597_598>DYVDFREY(1)|p.595_596>DNEYFYVDFR(1)|p.594_596>LDNEYFYVDF(1)|p.E596_Y597insRTDFRE(1)|p.Y597_E598insEYDLKWEFG(1)|p.F590_E596>LG(1)|p.E596_Y597ins11(1)|p.597_598>DRSSDNEYFYVDFREY(1)|p.E596_Y597ins16(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTCATATTCTCTGAAA	0.378000			"""Mis, O"""		"""AML, ALL"""									22			12		0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53112163	53112163	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:53112163C>T	uc004drw.3	+	0	622	c.483C>T	c.(481-483)gaC>gaT	p.D161D	TSPYL2_uc004drv.3_Silent_p.D161D|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	161					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGTTAGTTGACCCGAAGAGCA	0.587000														10			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9089904G>A	uc002mkp.3	-	0	2115	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAATCTGCGGATGTCTCAG	0.582000														93			18		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999184	46999184	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:46999184G>A	uc001jec.3	+	2	439	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GPRIN2_uc021ppt.1_Missense_Mutation_p.G102S	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	102										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GTCCACCATGGGCGGCAGTGA	0.657000														33			4		0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170592531	170592531	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:170592531G>A	uc003qxm.3	-	8	2306	c.1836C>T	c.(1834-1836)atC>atT	p.I612I		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	612					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGGTGTTCTTGATCTGCGTGG	0.612000														105			35		0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5922267	5922267	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:5922267G>A	uc010qat.2	-	5	1465	c.922C>T	c.(922-924)Cga>Tga	p.R308*	ANKRD16_uc009xie.3_Intron|ANKRD16_uc009xif.3_Nonsense_Mutation_p.R308*|ANKRD16_uc001iiq.3_Intron	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	308								p.R308*(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GTACCTGATCGATTTTTTTCA	0.294000														11			7		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43622078	43622078	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:43622078G>A	uc001jal.3	+	18	3285	c.3095G>A	c.(3094-3096)gGc>gAc	p.G1032D	RET_uc001jak.1_Missense_Mutation_p.G1032D|RET_uc010qez.1_Missense_Mutation_p.G778D	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	1032					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TATGACGACGGCCTCTCAGAG	0.542000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					140			50		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707908	50707908	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:50707908G>A	uc002egk.2	-	3	533	c.360C>T	c.(358-360)ttC>ttT	p.F120F	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	120	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.F120F(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGAGCTTCGCGAAGTCGGAAT	0.552000														59			19		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780633	88780633	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:88780633G>A	uc001pcq.3	-	0	608	c.408C>T	c.(406-408)tcC>tcT	p.S136S	GRM5_uc009yvm.3_Silent_p.S136S|GRM5_uc009yvn.2_Silent_p.S136S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	136					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S136Y(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGGAGCGGAAGGAAGAGGAGG	0.507000														54			17		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79745092	79745092	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:79745092C>T	uc001jzn.3	-	23	3211	c.3078G>A	c.(3076-3078)caG>caA	p.Q1026Q		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1026					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|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTGGCTCCATCTGTGCCCTAG	0.532000														58			27		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287571	29287571	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:29287571G>A	uc001usj.3	-	2	848	c.306C>T	c.(304-306)ttC>ttT	p.F102F	SLC46A3_uc001usg.3_Silent_p.F27F|SLC46A3_uc001usi.3_Silent_p.F102F|SLC46A3_uc001ush.3_Silent_p.F102F|SLC46A3_uc001usk.3_Silent_p.F27F	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	102					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAATCATAGGGAATTTTCGTC	0.403000														21			6		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589840	108589840	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:108589840G>A	uc001tms.3	+	1	975	c.231G>A	c.(229-231)cgG>cgA	p.R77R	WSCD2_uc001tmt.3_Silent_p.R77R	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	77						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAGGTTTCCGGGACACAGGTG	0.612000														181			38		0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541266	5541266	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:5541266C>T	uc001iic.2	-	0	268	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	46	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCTGGGCCTCCGAGAGGTTC	0.622000														82			30		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795189	142795189	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:142795189C>T	uc004fbz.3	-	1	1243	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	163								p.Q162H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTTCGTCCTCCTGTGAAG	0.502000														131			88		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413897	2413898	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:2413897_2413898CC>AT	uc010xgx.2	+	8	1352_1353	c.1352_1353CC>AT	c.(1351-1353)gcc>gAT	p.A451D	TMPRSS9_uc002lvv.1_Missense_Mutation_p.A485D	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	451					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCCCCTGCCGCCCCCAGCA	0.658000														29			5		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227399	35227399	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:35227399G>A	uc001bxw.4	+	0	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K	GJB4_uc001bxv.1_Missense_Mutation_p.E182K	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	182					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGGCCCACGGAGAAGAAGGT	0.577000														39			10		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6214931	6214931	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:6214931C>T	uc001amb.2	-	4	645	c.534G>A	c.(532-534)aaG>aaA	p.K178K		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	178					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACATGGGGATCTTCGGGTTCT	0.657000														60			13		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81380709	81380709	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:81380709C>T	uc001xux.2	-	2	362	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	CEP128_uc001xuz.2_Missense_Mutation_p.R64Q|CEP128_uc001xva.1_Missense_Mutation_p.R64Q|CEP128_uc010ata.1_Missense_Mutation_p.R64Q	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	64						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTCGGTATCGTCCAAGCAT	0.403000														60			17		0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3712001	3712001	+	Missense_Mutation	SNP	C	T	T	rs145014945		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:3712001C>T	uc002cvt.4	-	15	2016	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	TRAP1_uc002cvs.3_Missense_Mutation_p.E434K|TRAP1_uc010uxf.2_Missense_Mutation_p.E590K|BC095475_uc002cvu.3_Non-coding_Transcript	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	643					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGGTTGATCTCCAGCGTGGGC	0.622000														25			14		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117662831	117662831	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:117662831G>A	uc001twn.2	-	25	4629	c.3918C>T	c.(3916-3918)atC>atT	p.I1306I	NOS1_uc021ren.1_Silent_p.I936I|NOS1_uc021reo.1_Silent_p.I936I|NOS1_uc001twm.2_Silent_p.I1272I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1272					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTTGTGTTGGATATCAAATT	0.597000														231			58		0	0	1	0	0
C3orf19	51244	broad.mit.edu	37	3	14693253	14693253	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:14693253G>A	uc003byw.3	+	1	1	c.-90_splice	c.e1-1		C3orf19_uc010hei.1_Splice_Site	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA.											endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	14						TGTCGCTGTCGAAGACACTTC	0.567000														14			5		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64447749	64447749	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:64447749C>T	uc003jtp.3	-	24	4082	c.3268G>A	c.(3268-3270)Gct>Act	p.A1090T	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1090	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGGCAATAAGCCACTTTATTC	0.453000														63			14		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12908029	12908029	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:12908029G>A	uc010obf.2	-	1	340	c.114C>T	c.(112-114)tcC>tcT	p.S38S	LOC649330_uc009vno.2_Silent_p.S38S	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	38							nucleic acid binding|nucleotide binding										TGCCATACTTGGAAAAGATCG	0.468000														194			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794045	140794045	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140794045C>A	uc003lkl.2	+	0	1303	c.1303C>A	c.(1303-1305)Cct>Act	p.P435T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.P435T	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	433	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L434I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGTCCTCCTCTATCAAC	0.448000														143			30		9.65021e-13	9.77796e-13	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572659	140572659	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140572659C>T	uc003lix.3	+	0	708	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCTTTTTTCCATATTAACA	0.468000														172			48		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103866	53103866	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:53103866G>A	uc003tpz.3	+	0	518	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	168										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cgccgcccAGGAGCTCCTGGA	0.721000														50			11		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228353	61228353	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:61228353G>A	uc010xeo.2	+	3	480	c.480G>A	c.(478-480)acG>acA	p.T160T	SERPINB12_uc010xen.2_Silent_p.T140T	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	140					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTACCACACGACGATTGAAA	0.383000														68			22		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640579	140640579	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:140640579G>A	uc021xsg.1	-	4	4067	c.3315C>T	c.(3313-3315)ttC>ttT	p.F1105F	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.F568F	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	1101					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGCCAGGGAAGGAACCCC	0.587000														48			10		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15656964	15656964	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:15656964C>T	uc001rcv.2	+	5	1698	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	PTPRO_uc001rcw.2_Nonsense_Mutation_p.R410*|PTPRO_uc001rcu.2_Nonsense_Mutation_p.R410*	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	410						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTGTGAAACTCGAAAAAGTCA	0.393000														29			6		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126128249	126128249	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:126128249G>A	uc004bnx.1	+	2	564	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	CRB2_uc004bnw.1_Missense_Mutation_p.G158R	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	158	EGF-like 3; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGCCTGCACGGGGGCTCGTG	0.701000														13			7		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896248	153896248	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:153896248C>T	uc003inf.2	+	10	1880	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	602					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCACACAAACCTCAGGCCTCG	0.697000														176			42		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13780996	13780996	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:13780996G>A	uc003jfd.2	-	52	8935	c.8893C>T	c.(8893-8895)Ctg>Ttg	p.L2965L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2965	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACCTCGTCAGGCTCTGCTTT	0.463000									Kartagener syndrome					27			5		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12077410	12077410	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:12077410G>A	uc001ila.3	-	0	487	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	UPF2_uc001ilb.3_Missense_Mutation_p.R5C|UPF2_uc001ilc.3_Missense_Mutation_p.R5C|UPF2_uc009xiz.2_Missense_Mutation_p.R5C	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	5					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGCTTTTTACGCTCAGCTGGC	0.408000														83			5		0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86048681	86048681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:86048681C>T	uc001dle.3	+	4	1326	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CYR61_uc021opf.1_3'UTR	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	368					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of ERK1 and ERK2 cascade|regulation of cell growth|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGCAGCGTTTCCCTTCTACAG	0.478000														57			12		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31165103	31165103	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:31165103C>T	uc002rns.3	-	9	1550	c.910G>A	c.(910-912)Gat>Aat	p.D304N	GALNT14_uc002rnq.3_Missense_Mutation_p.D279N|GALNT14_uc010ymr.2_Missense_Mutation_p.D264N|GALNT14_uc002rnr.3_Missense_Mutation_p.D299N|GALNT14_uc010ezo.2_Missense_Mutation_p.D266N|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	299	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATGTCCATATCATATTTCCCC	0.512000														92			17		0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832489	49832490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:49832489_49832490GG>AA	uc003xqp.3	-	1	765_766	c.590_591CC>TT	c.(589-591)ccc>cTT	p.P197L		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	197					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAAGCAACCAGGGTCTGGAAAA	0.495000														80			21		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113655146	113655146	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:113655146A>T	uc003eaq.4	+	13	1566	c.1490A>T	c.(1489-1491)aAt>aTt	p.N497I	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.N330I|GRAMD1C_uc003eas.3_Missense_Mutation_p.N292I|GRAMD1C_uc003eat.3_Missense_Mutation_p.N156I	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	497						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTGTATTAAATCAGGCCATT	0.368000														36			12		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548901	158548901	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158548901C>T	uc010pin.2	-	0	789	c.789G>A	c.(787-789)gtG>gtA	p.V263V		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGATTATAACCACGGTGAGGT	0.473000														116			51		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907233	164907233	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:164907233G>A	uc003fej.4	-	1	1830	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	SLITRK3_uc003fek.3_Silent_p.F462F|SLITRK3_uc021xgy.1_Silent_p.F462F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	462						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCATTAAGGAAGAGGCTCT	0.448000										HNSCC(40;0.11)				44			11		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339057	19339057	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:19339057G>A	uc002nlz.3	+	7	2727	c.2628G>A	c.(2626-2628)ctG>ctA	p.L876L	NCAN_uc010ecc.1_Silent_p.L440L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	876					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCACGACCCTGGAGCAGGGGG	0.592000														96			19		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489848	50489848	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:50489848G>A	uc001zxw.3	+	1	862	c.630G>A	c.(628-630)tgG>tgA	p.W210*	SLC27A2_uc010bes.3_Nonsense_Mutation_p.W210*|SLC27A2_uc001zxx.3_5'UTR	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	210					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAGAGTCATGGAGGTCTGAAG	0.398000														52			12		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432570	61432570	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:61432570G>A	uc010qig.1	-	2	747	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	100					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGATATTGGGAGCAAAACTG	0.443000														37			19		0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56501149	56501149	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:56501149C>T	uc002ejb.3	+	6	831	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	OGFOD1_uc002ejc.3_Missense_Mutation_p.R104W	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	244							L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R244R(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ATCATTGACTCGGCCTCCCAA	0.463000														102			42		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45515469	45515469	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:45515469C>T	uc021uvq.1	+	3	570	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	RELB_uc021uvp.1_Missense_Mutation_p.R144C	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	147	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GTGCGAGGGCCGCTCGGCCGG	0.746000														21			14		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27287980	27287980	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:27287980C>T	uc002hdp.2	-	5	1446	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.G418R|SEZ6_uc002hdq.1_Missense_Mutation_p.G293R	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	418	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGGATCACTCCGCCGCAAGCA	0.607000														157			42		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524587	37524587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:37524587C>T	uc003aqv.1	-	9	1336	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	402					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGGAAGACCCTGTGGGTGC	0.627000														70			25		0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7050044	7050044	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:7050044C>T	uc001qrw.1	+	8	3452	c.3215_splice	c.e8-1	p.A1072_splice	ATN1_uc001qrx.1_Splice_Site_p.A1072_splice|C12orf57_uc009zfj.1_5'Flank	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	1072					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCCTCCAGCCTCTGCCTCGG	0.592000														78			16		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829272	115829272	+	Missense_Mutation	SNP	G	A	A	rs146716262		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:115829272G>A	uc021osd.1	-	0	145	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	NGF_uc001efu.1_Missense_Mutation_p.R49C	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	49					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding	p.R49C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGGGCTCTGCGAAGGGCAGTG	0.612000														60			9		0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30457355	30457355	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:30457355G>A	uc002rne.2	+	1	319	c.111G>A	c.(109-111)aaG>aaA	p.K37K		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.	37					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GCCCCCGCAAGGATGGCCTTT	0.567000														36			14		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021752	132021752	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:132021752C>T	uc002tsn.2	+	14	2776	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.I508I|POTEE_uc002tsl.2_Silent_p.I490I|POTEE_uc010fmy.1_Silent_p.I372I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	908	Actin-like.						ATP binding										AGCGGGAAATCGTGCGTGACA	0.602000														200			21		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28124527	28124527	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:28124527G>A	uc001url.4	-	8	2189	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L		NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	627	PDZ 4.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AATGAAAAAAGGCTGATTGGT	0.368000														26			12		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729055	196729055	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:196729055G>A	uc002utj.4	-	40	7425	c.7324C>T	c.(7324-7326)Cgc>Tgc	p.R2442C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2442	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2442G(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCGCTGGCGATCTAACTGA	0.448000														58			18		0	0	1	0	0
BRAP	8315	broad.mit.edu	37	12	112116993	112116993	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:112116993G>A	uc001tsn.4	-	3	789	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	BRAP_uc010syh.2_Missense_Mutation_p.P58S|BRAP_uc009zvv.3_Missense_Mutation_p.P169S	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	199					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TATTGGTTGGGAGTAGAGTCT	0.358000														34			9		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644345	64644345	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:64644345C>T	uc001dbj.2	+	8	3020	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	874	Ser/Thr-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTGCCCTCATCAGGATCCAAT	0.502000														33			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106452697	106452697	+	RNA	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106452697C>T	uc021ser.1	-	2607		c.45263G>A								Parts of antibodies, mostly variable regions.																		ACGGCCGTGTCGTCAGATCTC	0.557000														192			58		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561253	219561253	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:219561253C>T	uc002viu.3	+	21	2794	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	STK36_uc002viv.3_Intron|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	839			R -> Q (in dbSNP:rs13023540).		cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGACAGGTTCGGTTGACTCC	0.502000														51			17		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180846525	180846525	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:180846525G>C	uc010frh.1	-	4	706	c.406C>G	c.(406-408)Cct>Gct	p.P136A	CWC22_uc002unp.2_Missense_Mutation_p.P136A	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	136						catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AGCTTTGCAGGGGGAATATAT	0.398000														28			6		0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170425747	170425747	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:170425747G>A	uc002uev.4	-	2	781	c.393C>T	c.(391-393)gcC>gcT	p.A131A	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Silent_p.A117A|FASTKD1_uc002uey.2_Intron	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	131					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GCGGGTCATGGGCCTCACCAG	0.378000														107			32		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84070350	84070350	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:84070350G>A	uc002fhg.1	-	1	345	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	115					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGCCACGGAGATCATGAGCA	0.622000														41			9		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301426	92301426	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:92301426C>T	uc003yez.3	+	2	495	c.256C>T	c.(256-258)Cct>Tct	p.P86S	SLC26A7_uc003yex.3_Missense_Mutation_p.P86S|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.P86S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	86						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTCTCTGTTTCCTGCCATAAT	0.383000														100			24		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92573798	92573798	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:92573798C>T	uc001pdj.4	+	16	10456	c.10439C>T	c.(10438-10440)cCt>cTt	p.P3480L	FAT3_uc001pdi.4_5'UTR	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3480	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACAATGGGCCTCCCTTTTCA	0.473000										TCGA Ovarian(4;0.039)				36			16		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41545778	41545778	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:41545778G>A	uc003azl.4	+	13	2788	c.2393G>A	c.(2392-2394)aGt>aAt	p.S798N		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	798	Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAATGTCTAGTTCTTCCTGC	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					39			13		0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426025	125426026	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:125426025_125426026GG>AA	uc001lhh.3	+	0	155_156	c.102_103GG>AA	c.(100-105)gcggac>gcAAac	p.D35N		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	35					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGCACAGCGCGGACATCCGCCG	0.698000														7			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068306	9068306	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9068306G>A	uc002mkp.3	-	2	19344	c.19140C>T	c.(19138-19140)tcC>tcT	p.S6380S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6382	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGTCTGAGGATGAGCCAA	0.473000														40			16		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613832	14613832	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:14613832T>A	uc001rbw.3	+	8	2720	c.2562T>A	c.(2560-2562)agT>agA	p.S854R	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.3_Missense_Mutation_p.S854R|ATF7IP_uc001rbv.1_Missense_Mutation_p.S853R|ATF7IP_uc001rbx.3_Missense_Mutation_p.S853R|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.4_Missense_Mutation_p.S854R|ATF7IP_uc001rca.3_Missense_Mutation_p.S854R	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	854					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCAGTCCTAGTATTCAAAGGA	0.488000														108			44		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231108486	231108486	+	Silent	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:231108486G>T	uc002vql.3	+	4	646	c.531G>T	c.(529-531)gtG>gtT	p.V177V	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.V177V|SP140_uc002vqn.3_Silent_p.V177V|SP140_uc002vqm.3_Silent_p.V177V|SP140_uc010fxl.3_Silent_p.V177V	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	177					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		ATATAGCAGTGCCTCAGGAAG	0.488000														61			18		1.9806e-07	1.99463e-07	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432634	104432634	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:104432634A>T	uc004bbp.2	-	2	2661	c.2060T>A	c.(2059-2061)aTc>aAc	p.I687N	GRIN3A_uc004bbq.1_Missense_Mutation_p.I687N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	687					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GACGGCAGTGATGTGCAGAGC	0.502000														71			31		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956995	1956995	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:1956995G>A	uc001aip.2	+	3	383	c.288G>A	c.(286-288)cgG>cgA	p.R96R		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	96						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		AGAGCTGGCGGGACAGCAGGC	0.647000														83			23		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60563046	60563046	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:60563046G>C	uc001npz.1	+	5	607	c.511G>C	c.(511-513)Gag>Cag	p.E171Q		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	171						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CCAGAGGCTGGAGCTGGCCTT	0.612000														28			7		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175232	57175232	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:57175232G>A	uc010ygn.2	-	1	1562	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCAGGTGTAGGGCCGCTCGC	0.677000														62			37		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387649	52387649	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:52387649C>T	uc003xqu.4	-	6	678	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	193	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTAAAAGCTCCCCCAGCCAC	0.522000														33			7		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706467	21706467	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:21706467G>A	uc003cce.3	-	1	484	c.76C>T	c.(76-78)Cct>Tct	p.P26S	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	26						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGTTGCAAAGGAGGGGCTGGT	0.537000														38			15		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169555273	169555273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:169555273G>A	uc003fgb.3	+	4	1537	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	513	IQ.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGATTCAGGCATGGTGGCG	0.388000														18			3		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179200914	179200914	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:179200914C>T	uc003mkm.3	+	4	2350	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	696					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.P696P(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCCGTGCCCGGCATGAAC	0.592000														137			37		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234369	18234369	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:18234369C>T	uc001rdq.3	-	5	568	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	125	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAAAGATCTCGTTTGTTGCC	0.408000														68			21		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077810	19077810	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:19077810C>T	uc001mph.3	-	1	228	c.140G>A	c.(139-141)gGa>gAa	p.G47E	MRGPRX2_uc021qer.1_Missense_Mutation_p.G47E	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	47					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAACCCGTTTCCTACCAGCCC	0.582000														140			31		0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27225771	27225771	+	Silent	SNP	G	A	A	rs146651013		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:27225771G>A	uc002hde.4	-	4	949	c.822C>T	c.(820-822)atC>atT	p.I274I	FLOT2_uc002hdc.3_5'Flank|DHRS13_uc002hdd.4_Silent_p.I224I|DHRS13_uc010wba.2_Silent_p.I193I|AX795351_uc002hdf.3_Non-coding_Transcript	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	274						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGAGGGGCTCGATGCCCTCTT	0.627000														24			5		0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44128686	44128686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:44128686C>T	uc001cjx.3	+	4	717	c.551C>T	c.(550-552)tCc>tTc	p.S184F	KDM4A_uc010oki.2_Missense_Mutation_p.S184F	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	184	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGGAAGACATCCTTTGCTTGG	0.532000														114			26		0	0	1	0	0
CRYBB2P1	1416	broad.mit.edu	37	22	25855388	25855388	+	RNA	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:25855388T>C	uc003abt.3	+	4		c.595T>C			CRYBB2P1_uc003abu.3_Non-coding_Transcript|CRYBB2P1_uc003abv.3_Non-coding_Transcript					Homo sapiens crystallin, beta B2 pseudogene 1 (CRYBB2P1), transcript variant 1, non-coding RNA.																		TGCAGGTGGGTTGGCTACTAG	0.597000														54			10		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897613	104897613	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:104897613G>A	uc003yls.3	+	1	361	c.120G>A	c.(118-120)tcG>tcA	p.S40S	RIMS2_uc003ylp.3_Silent_p.S262S|RIMS2_uc003ylw.2_Silent_p.S70S|RIMS2_uc003ylq.3_Silent_p.S70S|RIMS2_uc003ylr.3_Silent_p.S70S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	293	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.A40T(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGCTACTTCGGATACCGCAA	0.403000										HNSCC(12;0.0054)				58			14		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567078	140567078	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140567078G>T	uc003liw.1	+	0	186	c.186G>T	c.(184-186)agG>agT	p.R62S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCTGCAAGGGGAACCAGGG	0.498000														45			5		9.70103e-10	9.79951e-10	1	1	0
PRKAR1A	5573	broad.mit.edu	37	17	66526524	66526525	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:66526524_66526525CC>TT	uc002jhg.3	+	10	1260_1261	c.1080_1081CC>TT	c.(1078-1083)ggccca>ggTTca	p.P361S	PRKAR1A_uc002jhh.3_Missense_Mutation_p.P361S|PRKAR1A_uc002jhi.3_Missense_Mutation_p.P361S|PRKAR1A_uc002jhj.3_Missense_Mutation_p.P361S|PRKAR1A_uc002jhk.3_Missense_Mutation_p.P237S|PRKAR1A_uc002jhl.3_Missense_Mutation_p.P361S	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	361					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GTGTTCTTGGCCCATGCTCAGA	0.510000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					103			15		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256871	240256871	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:240256871G>A	uc010pye.2	+	0	1687	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	FMN2_uc010pyd.2_Missense_Mutation_p.E488K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	488					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTGGACGGAGGAGCTAGGCGC	0.766000														12			4		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889190	18889190	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:18889190G>A	uc021qvx.1	-	2	291	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	34					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TAACTGCACCGAATATCTAAT	0.363000														30			12		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608151	24608151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:24608151C>T	uc004dbi.3	-	3	708	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	PCYT1B_uc004dbk.4_Missense_Mutation_p.E159K|PCYT1B_uc004dbj.3_Missense_Mutation_p.E141K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	159	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTGTGTTTTTCCAGAAACTCT	0.483000														10			6		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862632	154862632	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:154862632C>T	uc003wlu.1	+	0	87	c.23C>T	c.(22-24)aCc>aTc	p.T8I	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	8						integral to plasma membrane	serotonin receptor activity	p.T8T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTGAACCTAACCTCCTTTTCC	0.612000														127			58		0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110944415	110944415	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:110944415C>T	uc001trf.4	+	3	443	c.305C>T	c.(304-306)tCc>tTc	p.S102F	RAD9B_uc001trg.4_Missense_Mutation_p.S102F|RAD9B_uc010sya.2_Missense_Mutation_p.S102F|RAD9B_uc001tre.4_Missense_Mutation_p.S30F|RAD9B_uc001trd.4_5'UTR	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA.	99					DNA repair|DNA replication|cell cycle checkpoint	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGTCTGAATTCCCTTGAAAGA	0.294000														77			20		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360294	149360294	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:149360294C>T	uc003lrh.3	+	2	1406	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	380						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACCTAATTCCTAGTGTGGC	0.378000														30			10		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564951	58564951	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:58564951G>A	uc002qrc.1	+	5	1006	c.759G>A	c.(757-759)agG>agA	p.R253R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	253					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R253M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGAAACAGGAACACTGACC	0.622000														37			28		0	0	1	0	0
FAM96A	84191	broad.mit.edu	37	15	64381011	64381011	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:64381011G>A	uc002amt.1	-	1	404	c.164C>T	c.(163-165)aCt>aTt	p.T55I	FAM96A_uc002amu.1_Missense_Mutation_p.T55I|FAM96A_uc010uin.2_Missense_Mutation_p.T55I	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	Homo sapiens family with sequence similarity 96, member A (FAM96A), transcript variant 1, mRNA.	55					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCTTCTAAAGTATTGGGCTT	0.353000														21			6		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:128341887G>A	uc002top.3	+	12	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	512	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000														58			17		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534359	47534359	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:47534359C>T	uc001cqu.1	+	1	246	c.243C>T	c.(241-243)ccC>ccT	p.P81P		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	81						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GTGCTGTTCCCTTGTGGGTTG	0.433000														115			29		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495248	32495248	+	Silent	SNP	C	T	T	rs139774349	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:32495248C>T	uc003amc.3	+	11	1609	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SLC5A1_uc011alz.2_Silent_p.F326F	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	453					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGCAACTCTTCGATTACATCC	0.498000														209			54		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21890535	21890535	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:21890535G>A	uc001bet.3	+	6	730	c.473_splice	c.e6-1	p.G158_splice	ALPL_uc010odo.2_Splice_Site_p.G103_splice|ALPL_uc010odp.2_Splice_Site_p.G81_splice|ALPL_uc010odn.2_Splice_Site_p.G106_splice|ALPL_uc001beu.4_Splice_Site_p.G158_splice	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	158					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GCACCCCAGGGAAATCTGTGG	0.647000														37			7		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908073	139908073	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:139908073C>T	uc003lfs.2	+	28	5696	c.5542C>T	c.(5542-5544)Ccc>Tcc	p.P1848S	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1848S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P587S|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P486S|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.P283S|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1848						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCTCTACCCTTAGCTTA	0.453000														110			23		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889735	34889735	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:34889735C>T	uc002yrz.3	-	14	2194	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	GART_uc002yrx.3_Missense_Mutation_p.R628K|GART_uc010gmd.3_Missense_Mutation_p.R290K|GART_uc002yry.3_Missense_Mutation_p.R628K	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	628	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CACGATTTTCCTCACAAGGCT	0.458000														93			23		0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666736	116666737	+	Missense_Mutation	DNP	CC	TT	TT	rs141687184	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:116666736_116666737CC>TT	uc001egc.1	+	3	504_505	c.239_240CC>TT	c.(238-240)gcc>gTT	p.A80V		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	80										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AAAGGCCTGGCCGGGTACAGGG	0.594000														88			13		0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133740183	133740183	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:133740183C>T	uc003ytn.3	-	5	709	c.480G>A	c.(478-480)aaG>aaA	p.K160K	TMEM71_uc003ytm.2_5'UTR|TMEM71_uc003yto.3_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	179						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGCATTCATCTTCCCTGACT	0.488000														65			18		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080427	70080427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:70080427C>T	uc003heh.3	-	0	23	c.14G>A	c.(13-15)tGg>tAg	p.W5*	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	5					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AACTGAAGTCCATTTCAGAGT	0.393000														149			37		0	0	1	0	0
STX6	10228	broad.mit.edu	37	1	180974552	180974552	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:180974552C>T	uc021pfr.1	-	1	320	c.83G>A	c.(82-84)tGg>tAg	p.W28*	STX6_uc010pnr.2_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	28					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GAGCTCTGTCCATCTCTGAAA	0.493000														82			29		0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148994	203148994	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:203148994G>A	uc001gzi.2	-	8	1077	c.906C>T	c.(904-906)ttC>ttT	p.F302F	CHI3L1_uc001gzk.1_Silent_p.F38F|CHI3L1_uc001gzj.2_Silent_p.F241F|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	302					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTCCGCGGAGGAAGTCACAGA	0.557000														37			32		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501756	28501756	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:28501756T>A	uc003nll.2	+	4	480	c.478T>A	c.(478-480)Tct>Act	p.S160T	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	160					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TCCTCATCCCTCTGAGATTTT	0.448000														164			38		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074847	106074847	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:106074847G>A	uc001kyf.3	-	2	1416	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ITPRIP_uc001kye.3_Silent_p.F321F|ITPRIP_uc001kyg.3_Silent_p.F321F|ITPRIP_uc021pxv.1_Silent_p.F321F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	321						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGGCCAGGTCGAACTCGTACT	0.577000														73			16		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732105	119732105	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:119732105G>A	uc002tln.1	+	5	709	c.577G>A	c.(577-579)Gga>Aga	p.G193R	MARCO_uc010yyf.1_Missense_Mutation_p.G115R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	193	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.S192W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCCCTCGGGACCCCAAGG	0.542000														26			7		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23779235	23779235	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:23779235G>A	uc001bha.2	-	3	502	c.378C>T	c.(376-378)ttC>ttT	p.F126F	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Silent_p.F126F|ASAP3_uc001bhc.1_Silent_p.F126F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	126					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.S125C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGTCCAGGGGGAAAGAGACAA	0.562000														116			45		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379449	121379449	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:121379449T>C	uc003yox.3	+	45	5382	c.5117T>C	c.(5116-5118)gTt>gCt	p.V1706A	COL14A1_uc003yoz.3_Missense_Mutation_p.V671A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1706	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCCAGGCGTTGGAACCCAA	0.363000														13			4		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833197	6833197	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:6833197C>T	uc002mfu.1	+	15	1608	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	VAV1_uc010xjh.1_Missense_Mutation_p.S472F|VAV1_uc010dva.1_Missense_Mutation_p.S504F|VAV1_uc002mfv.1_Missense_Mutation_p.S449F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	504	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCCAGCTCCAACATCTAT	0.433000														34			7		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20129301	20129301	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:20129301C>T	uc010rdm.2	+	37	7462	c.7101C>T	c.(7099-7101)ctC>ctT	p.L2367L	NAV2_uc001mpp.3_Silent_p.L2247L|NAV2_uc001mpr.4_Silent_p.L2311L|NAV2_uc021qew.1_Silent_p.L2314L|NAV2_uc009yhx.3_Silent_p.L1375L|NAV2_uc009yhz.3_Silent_p.L956L|NAV2_uc001mpu.3_Silent_p.L749L|NAV2_uc001mpv.3_Silent_p.L73L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2370						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCTATCTCCTGGAAGCCG	0.557000														190			53		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	T	T	rs144276666		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:29012269C>T	uc003nlw.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000														106			25		0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26083537	26083537	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:26083537G>A	uc003abx.4	+	10	1007	c.860G>A	c.(859-861)gGt>gAt	p.G287D	ADRBK2_uc010gux.3_Missense_Mutation_p.G287D|ADRBK2_uc003abw.2_Missense_Mutation_p.G174D|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	287	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.H286H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCACAACACGGTGTGTTCTCT	0.408000														38			8		0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43220921	43220921	+	Missense_Mutation	SNP	C	T	T	rs35205304		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:43220921C>T	uc002iif.3	+	9	1245	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ACBD4_uc010wjj.2_Silent_p.F313F|ACBD4_uc002iie.3_Silent_p.F313F|ACBD4_uc002iic.3_Missense_Mutation_p.R301W|ACBD4_uc010dae.3_Silent_p.F235F	NM_001135705	NP_078998	Q8NC06	ACBD4_HUMAN	Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 4, mRNA.	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCGAATGTTTCGGACCCAAAA	0.602000														69			20		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54802557	54802557	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:54802557C>T	uc001sga.3	-	5	742	c.674G>A	c.(673-675)gGa>gAa	p.G225E	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	225					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAATAGCTTCCTGGTCCACC	0.507000														30			7		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197086955	197086955	+	Silent	SNP	C	T	T	rs138508558	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:197086955C>T	uc001gtu.3	-	16	4286	c.4029G>A	c.(4027-4029)ctG>ctA	p.L1343L	ASPM_uc001gtv.3_Silent_p.L1343L|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1343					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAACTTTTTCCAGCTTTTCCT	0.294000														118			33		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186335	95186335	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:95186335C>T	uc003ygh.2	-	5	703	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.R193Q	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	193	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTACCCTCTCGGGTAAGAGA	0.473000														124			40		0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986117	46986117	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:46986117C>T	uc021vgx.1	+	0	448	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	SOCS5_uc002rvf.3_Nonsense_Mutation_p.Q150*|SOCS5_uc002rvg.3_Nonsense_Mutation_p.Q150*	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	150					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGTGGACTTCAAAGGAGAGA	0.468000														56			14		0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100548010	100548010	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:100548010G>A	uc004ehb.3	-	0	50	c.24C>T	c.(22-24)ctC>ctT	p.L8L	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	8					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAGAAATGGGGAGCTGTCCCT	0.493000														107			75		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128528457	128528457	+	Silent	SNP	T	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:128528457T>G	uc002tpg.2	-	1	298	c.99A>C	c.(97-99)gcA>gcC	p.A33A	WDR33_uc002tph.2_Silent_p.A33A|WDR33_uc002tpi.2_Silent_p.A33A	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	33			A -> S (in dbSNP:rs11557686).		postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTGCTGTTGTGCAAAATCAG	0.418000														27			8		0	0	1	0	0
DUSP12	11266	broad.mit.edu	37	1	161721744	161721744	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:161721744C>T	uc001gbo.3	+	2	558	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	183					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TAAGCAATATCGTTTACAAAA	0.363000														53			23		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918806	50918806	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:50918806C>T	uc010eny.3	+	19	2755	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	POLD1_uc002psb.4_Silent_p.S892S|POLD1_uc002psc.4_Silent_p.S892S|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	892					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCGGCCTCCGACTATGCCG	0.677000								DNA polymerases (catalytic subunits)						21			15		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583929	47583929	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:47583929C>T	uc002ioz.4	+	2	602	c.477C>T	c.(475-477)aaC>aaT	p.N159N		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	159					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ACGAGGCCAACCACGTGGACC	0.701000														29			4		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344874	56344874	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:56344874C>T	uc001niz.1	-	0	324	c.324G>A	c.(322-324)gtG>gtA	p.V108V	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTCAGTGATCACTAGGGCGA	0.443000														59			19		0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113459826	113459826	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:113459826G>A	uc001ecx.3	-	3	2034	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	SLC16A1_uc001ecy.3_Missense_Mutation_p.P401L|SLC16A1_uc001ecz.3_Missense_Mutation_p.P401L	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	401					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CAGGAGGACAGGACAGCATTC	0.483000														33			8		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676613	123676613	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:123676613C>T	uc010rzz.2	-	0	445	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G149E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGGAAGGCTCCCACCCAGCAT	0.498000														34			10		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69890232	69890232	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:69890232C>T	uc004dyl.3	-	16	1582	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	TEX11_uc004dyk.3_Missense_Mutation_p.D149N|TEX11_uc004dym.3_Missense_Mutation_p.D459N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	474							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGGACCTTATCAAGTTGTTGC	0.403000														15			13		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751961	27751961	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:27751961C>T	uc002dow.3	+	14	2367	c.2343C>T	c.(2341-2343)ccC>ccT	p.P781P		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	781										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCGAGAAGCCCCTGGCCTGGA	0.622000														94			30		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274205	39274205	+	Silent	SNP	T	C	C	rs80322614		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:39274205T>C	uc002hvz.3	-	0	402	c.363A>G	c.(361-363)agA>agG	p.R121R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)|p.R121R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagc	0.647000														44			4		0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43230294	43230294	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:43230294G>A	uc003bdd.2	-	4	651	c.431C>T	c.(430-432)cCt>cTt	p.P144L	ARFGAP3_uc010gzf.2_Missense_Mutation_p.P100L|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	144					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTTTGGTGGAGGGGACAAAGG	0.408000														170			44		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999699	46999699	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:46999699G>A	uc001jec.3	+	2	954	c.819G>A	c.(817-819)caG>caA	p.Q273Q	GPRIN2_uc021ppt.1_Silent_p.Q273Q	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	273										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGCAGGCTCAGCATGGGGTGA	0.627000														60			9		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425673	74425673	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:74425673C>T	uc010vmt.1	+	5	845	c.844C>T	c.(844-846)Cct>Tct	p.P282S				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	343										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCTCAAGACTCCTCCcttagc	0.537000														121			10		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66541973	66541973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:66541973C>T	uc002lkk.2	+	6	1227	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	CCDC102B_uc002lki.2_Missense_Mutation_p.S335F|CCDC102B_uc002lkj.1_Missense_Mutation_p.S335F	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	335										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAGGAAGAATCCAAATCTCAA	0.338000														40			16		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510999	56510999	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:56510999G>A	uc010rjo.2	-	0	289	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAACTGGCCAGGATTTTGGGG	0.438000														95			40		0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55467224	55467224	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:55467224A>G	uc002ryn.3	-	14	2530	c.1793T>C	c.(1792-1794)aTa>aCa	p.I598T	MTIF2_uc010yox.2_Missense_Mutation_p.I267T|MTIF2_uc002ryo.3_Missense_Mutation_p.I598T	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	598					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACGGTAAATTATTTTGTGAAG	0.388000														24			11		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094734	9094734	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:9094734C>T	uc003brf.1	-	8	1976	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	SRGAP3_uc003brg.1_Missense_Mutation_p.E434K|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Missense_Mutation_p.E294K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	434					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATTTCTGTTTCCTGCTGGTTG	0.512000			T	RAF1	pilocytic astrocytoma									62			17		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977358	29977358	+	Missense_Mutation	SNP	T	C	C	rs146982767	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:29977358T>C	uc021yty.1	+	4	404	c.386T>C	c.(385-387)aTg>aCg	p.M129T	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.M126T					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GATTTGTTCATGCCTTCCCTT	0.448000														43			3		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160114984	160114984	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:160114984G>A	uc003lym.1	-	4	945	c.98C>T	c.(97-99)cCa>cTa	p.P33L	ATP10B_uc003lyp.2_Missense_Mutation_p.P33L|ATP10B_uc011deg.1_Missense_Mutation_p.P77L|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	33					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTTTCTCTGGAGAGAGCAG	0.542000														70			23		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96792135	96792135	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:96792135G>A	uc001yfi.3	-	14	2653	c.2288C>T	c.(2287-2289)tCt>tTt	p.S763F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	763										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTTGATCAGATCGAAGATC	0.393000														50			13		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561106	41561106	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:41561106C>T	uc002yyq.1	-	11	2868	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	806	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E806K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTCATCTCCTTTTTCTGC	0.507000														75			25		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769744	112769744	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:112769744C>T	uc003kqm.2	-	0	985	c.793G>A	c.(793-795)Gag>Aag	p.E265K	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	265	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGAGGATCTCGTCGATGTGG	0.622000														40			7		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307109	162307109	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:162307109C>T	uc003iqh.3	-	15	2770	c.2334G>A	c.(2332-2334)atG>atA	p.M778I	FSTL5_uc003iqi.3_Missense_Mutation_p.M777I|FSTL5_uc010iqv.3_Missense_Mutation_p.M768I	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	778						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACTCTTTATCATCTTGACCT	0.453000														110			30		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327544	67327544	+	Silent	SNP	C	T	T	rs143567769		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:67327544C>T	uc002esu.2	-	11	2172	c.2121G>A	c.(2119-2121)gcG>gcA	p.A707A	KCTD19_uc002est.2_Silent_p.A479A|KCTD19_uc010vjj.1_Silent_p.A450A	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	707						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A707A(2)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGTCTTTCGCTCCAGCTC	0.602000														115			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026203	9026203	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9026203G>A	uc002mkp.3	-	13	36987	c.36783C>T	c.(36781-36783)gtC>gtT	p.V12261V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12263	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCCTGCAGGACACTCTCCA	0.542000														168			52		0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149992437	149992437	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:149992437C>T	uc003wgu.2	-	2	140	c.-50_splice	c.e2-1		ACTR3C_uc022aps.1_Splice_Site	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.						regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										GAGGTTCTGTCTGTAAGAAAA	0.353000														49			15		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464290	247464290	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:247464290T>C	uc009xgv.3	-	7	1440	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	ZNF496_uc001ico.3_Missense_Mutation_p.E432G	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	432					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTGCGGCTTCTCCTGCTCCCT	0.617000														103			16		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745336	27745336	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:27745336G>A	uc002rky.3	+	17	1648	c.1582G>A	c.(1582-1584)Gga>Aga	p.G528R	GCKR_uc010ezd.3_Missense_Mutation_p.G526R|GCKR_uc010ylu.2_Missense_Mutation_p.G338R	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	528					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GCGGTTCTCTGGACAGTCCAA	0.512000														69			17		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:64678484C>T	uc021qzu.1	-	7	1270	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.E264K|C12orf56_uc001srz.3_5'UTR|C12orf56_uc001sry.3_Missense_Mutation_p.E6K	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000														10			5		0	0	1	0	0
FAM9B	171483	broad.mit.edu	37	X	9000383	9000383	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:9000383C>T	uc004csh.3	-	2	473	c.284_splice	c.e2+1	p.G95_splice	FAM9B_uc011mhu.2_Splice_Site_p.G50_splice			Q8IZU0	FAM9B_HUMAN	Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA.	50						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ACACTTTACCCCGTGTGTTCA	0.413000														75			42		0	0	1	0	0
FAM125B	89853	broad.mit.edu	37	9	129102878	129102878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:129102878C>T	uc004bqh.2	+	1	259	c.173C>T	c.(172-174)tCt>tTt	p.S58F	FAM125B_uc004bqg.2_Missense_Mutation_p.S58F|FAM125B_uc011lzy.2_Missense_Mutation_p.S43F	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	58	MABP.				protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						GTGGTGGCTTCTCGGAACCGA	0.498000														38			19		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162402212	162402212	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:162402212C>T	uc003iqh.3	-	12	2004	c.1568G>A	c.(1567-1569)aGa>aAa	p.R523K	FSTL5_uc003iqi.3_Missense_Mutation_p.R522K|FSTL5_uc010iqv.3_Missense_Mutation_p.R513K	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	523						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATAAGGACTCTGTCCAAAGT	0.353000														83			19		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814737	128814737	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:128814737T>C	uc003ifo.3	+	11	2666	c.2392T>C	c.(2392-2394)Ttt>Ctt	p.F798L	PLK4_uc011cgs.2_Missense_Mutation_p.F766L|PLK4_uc011cgt.2_Missense_Mutation_p.F757L	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	798					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGTGCTCCCTTTTTCCCAAT	0.308000														53			3		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946569	52946569	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:52946569G>A	uc001sao.3	-	0	363	c.293C>T	c.(292-294)cCa>cTa	p.P98L		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	98	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCCTCCAGGTGGGCATACAGT	0.627000														69			16		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949039	45949039	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:45949039C>T	uc001nbv.1	+	10	1610	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P469L|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P500L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	500					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCCTATACCCCGTCAACCAG	0.597000														111			25		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80764355	80764355	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:80764355G>A	uc001szd.3	+	54	6600	c.6594G>A	c.(6592-6594)ggG>ggA	p.G2198G	OTOGL_uc021rba.1_Silent_p.G217G|OTOGL_uc009zsg.2_Silent_p.G78G	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTAGGTAGGGAGTACCTGGC	0.308000														56			21		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118861	93118861	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:93118861C>T	uc001yap.3	+	5	1619	c.1467C>T	c.(1465-1467)gcC>gcT	p.A489A	RIN3_uc010auk.3_Silent_p.A151A|RIN3_uc001yaq.3_Silent_p.A414A|RIN3_uc001yar.1_Silent_p.A151A|RIN3_uc001yas.1_Silent_p.A151A	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	489	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGCGATGGCCTTGGAGACAC	0.647000														101			20		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650056	75650056	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:75650056G>A	uc004ecm.2	+	0	2011	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	578	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGCCCAAATGGGCCAAAGATG	0.488000														8			12		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897997	175897997	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:175897997C>T	uc003iuc.3	+	4	1991	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	ADAM29_uc003iud.3_Missense_Mutation_p.L441F|ADAM29_uc010irr.3_Missense_Mutation_p.L441F|ADAM29_uc011cki.2_Missense_Mutation_p.L441F|ADAM29_uc021xuo.1_Missense_Mutation_p.L441F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	441	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGCTTTTGGGCTTTGTTGCAA	0.443000														74			23		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642774	39642774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:39642774G>A	uc002hwt.3	-	6	1258	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	420	Tail.					intermediate filament	protein binding|structural constituent of epidermis	p.P420R(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGGACAGAAGGAACTCTAATA	0.597000														22			5		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680996	73680996	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:73680996C>T	uc002sje.1	+	7	7450	c.7339C>T	c.(7339-7341)Cca>Tca	p.P2447S	ALMS1_uc002sjf.1_Missense_Mutation_p.P2405S|ALMS1_uc002sjg.3_Missense_Mutation_p.P1835S|ALMS1_uc002sjh.1_Missense_Mutation_p.P1835S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2447					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAACTTCTTTCCATATGTTTC	0.448000														58			10		0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220090285	220090285	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:220090285G>A	uc002vke.1	-	5	408	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.L74L	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	74					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACCACAAAGAGGAACTGCC	0.547000														38			7		0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40197982	40197982	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40197982G>A	uc002omf.3	+	3	785	c.344G>A	c.(343-345)gGc>gAc	p.G115D	LGALS14_uc002omg.3_Missense_Mutation_p.G86D	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	86	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTTGAAGATGGCAAACCATTT	0.458000														268			5		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64676296	64676296	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:64676296G>A	uc001xgl.3	+	102	18770	c.18540_splice	c.e102+1	p.E6180_splice	SYNE2_uc001xgm.3_Splice_Site_p.E6180_splice|SYNE2_uc010apy.3_Splice_Site_p.E2565_splice|SYNE2_uc001xgn.3_Splice_Site_p.E1142_splice|SYNE2_uc021rui.1_Splice_Site_p.E1187_splice|SYNE2_uc001xgo.3_Splice_Site|SYNE2_uc010aqa.3_Splice_Site_p.E150_splice|SYNE2_uc001xgq.3_Splice_Site_p.E545_splice|SYNE2_uc001xgr.3_Splice_Site	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6180					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAGGTTTGAGGTAAACACCT	0.542000														29			4		0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51895873	51895873	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:51895873G>A	uc003dbt.1	+	2	57	c.19_splice	c.e2-1	p.T7_splice	IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Splice_Site	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	Homo sapiens IQ motif containing F2 (IQCF2), mRNA.	7										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTGATGACAGACCAAAGGCA	0.333000														38			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087601	9087601	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9087601G>A	uc002mkp.3	-	0	4418	c.4214C>T	c.(4213-4215)tCa>tTa	p.S1405L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1405	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATCCAGATGATTTTTCTGC	0.458000														74			18		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849292	117849292	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:117849292C>T	uc004bjj.4	-	2	1130	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	TNC_uc010mvf.3_Missense_Mutation_p.E240K|TNC_uc022bmj.1_Missense_Mutation_p.E240K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	240	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCGTAGCCTTCGAAACAGATG	0.607000														56			13		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756481	56756481	+	Silent	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:56756481C>T	uc010rjp.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCATTGTATTCCTTCTCATCT	0.393000														93			17		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038103	94038103	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:94038103C>T	uc003ung.1	+	15	1231	c.760C>T	c.(760-762)Cct>Tct	p.P254S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	254					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCTGCTGGCCCTCCAGGCTT	0.433000										HNSCC(75;0.22)				45			11		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270247	36270247	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:36270247G>A	uc010jwf.2	+	6	1384	c.1384_splice	c.e6+1	p.A462_splice	PNPLA1_uc010jwe.1_Splice_Site_p.A376_splice|PNPLA1_uc003olw.1_Splice_Site_p.A367_splice	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	462					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CAGCCCCAAGGTATGGACCCT	0.567000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		129			44		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19748830	19748830	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:19748830G>A	uc002nnd.3	-	9	943	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	GMIP_uc010xrb.2_Missense_Mutation_p.R276C|GMIP_uc010xrc.2_Missense_Mutation_p.R276C	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	276					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTGGCCTCGCGGACACAGGCC	0.701000														14			8		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218939975	218939975	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:218939975G>A	uc010fvl.2	+	8	1278	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	RUFY4_uc002vgw.3_Missense_Mutation_p.E81K	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	254							metal ion binding	p.L253L(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAGAAGGGGGAAAGTTCCAG	0.532000														9			3		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54688960	54688960	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:54688960C>T	uc009znk.3	-	0	583	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	NFE2_uc001sfq.3_Missense_Mutation_p.E25K|NFE2_uc001sfr.4_Missense_Mutation_p.E25K|NFE2_uc009znl.3_Missense_Mutation_p.E25K	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	25	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CAAGTCAGTTCCATCTCTCCT	0.587000														42			11		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32914104	32914104	+	Silent	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:32914104G>A	uc003amx.3	-	11	1698	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Silent_p.P511P|SYN3_uc011amc.1_Silent_p.P146P	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	512	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTGCACAGGGGGCCGGGGCT	0.622000														99			24		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595200	140595200	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140595200C>T	uc003lja.1	+	0	1692	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCACATCCCTGGTCTCC	0.657000														218			60		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782684	62782684	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:62782684C>T	uc002jew.4	-	10	2395	c.1484_splice	c.e10+1	p.R495_splice	PLEKHM1P_uc002jev.3_Splice_Site					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		GTCCCGCATACCTGATTGTGG	0.617000														20			6		0	0	1	0	0
MIR656	724026	broad.mit.edu	37	14	101533120	101533120	+	RNA	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:101533120C>T	uc021sdv.1	+	0		c.60C>T								Homo sapiens microRNA 656 (MIR656), microRNA.																		TACAGTCAACCTCTTTCCGAT	0.498000														66			24		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885560	63885560	+	Silent	SNP	G	A	A	rs149018598		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:63885560G>A	uc021qks.1	+	0	1821	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.K607K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	579					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GGACCAAGAAGGATAACTCCA	0.592000														56			13		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284212	27284212	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:27284212G>A	uc002ylz.3	-	13	1950	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S	APP_uc011acg.2_Missense_Mutation_p.P92S|APP_uc010glk.3_Missense_Mutation_p.P560S|APP_uc002yma.3_Missense_Mutation_p.P565S|APP_uc011ach.2_Missense_Mutation_p.P528S|APP_uc021whz.1_Missense_Mutation_p.P584S|APP_uc021wia.1_Missense_Mutation_p.P565S|APP_uc002ymb.3_Missense_Mutation_p.P509S|APP_uc010glj.3_Missense_Mutation_p.P453S|APP_uc021wib.1_Missense_Mutation_p.P509S|APP_uc011aci.2_Missense_Mutation_p.P474S	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	584					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTGATCCTTGGTTCACTAATC	0.458000														28			12		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396988	197396988	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:197396988G>A	uc001gtz.3	+	6	2742	c.2533G>A	c.(2533-2535)Ggt>Agt	p.G845S	CRB1_uc010poz.2_Missense_Mutation_p.G776S|CRB1_uc009wza.3_Missense_Mutation_p.G733S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.G326S|CRB1_uc001gub.1_Missense_Mutation_p.G494S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	845	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAACTTAATGGTGGATTCTT	0.388000														50			12		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083787	66083787	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:66083787C>G	uc001ohm.1	-	0	729	c.712G>C	c.(712-714)Gac>Cac	p.D238H		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	238						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCCCCGTTGTCAGGGCTGCAG	0.682000														59			11		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90491189	90491189	+	Silent	SNP	T	C	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:90491189T>C	uc003pnn.1	-	9	1688	c.1572A>G	c.(1570-1572)gcA>gcG	p.A524A	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Silent_p.A524A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	524					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTTCTTCAGGTGCCTGTTCAC	0.408000														72			25		0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95279520	95279520	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:95279520G>A	uc001kiq.4	+	7	1451	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	CEP55_uc009xug.3_Missense_Mutation_p.E383K	NM_018131	NP_060601	Q53EZ4	CEP55_HUMAN	Homo sapiens centrosomal protein 55kDa (CEP55), transcript variant 1, mRNA.	383	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AATTCTTAAGGAGCTCCGAAA	0.373000														45			12		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178170	223178170	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:223178170C>T	uc001hnu.2	+	9	3757	c.3431C>T	c.(3430-3432)cCt>cTt	p.P1144L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1144					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGTCAGATTCCTTTACCTAAA	0.458000														75			42		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90830522	90830522	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:90830522G>A	uc003hst.3	+	1	790	c.719G>A	c.(718-720)tGg>tAg	p.W240*	MMRN1_uc010iku.3_Nonsense_Mutation_p.W206*|MMRN1_uc011cds.2_5'UTR	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	240	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCTTGTGGCTGGACCGGTGGA	0.413000														31			7		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564181	8564181	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:8564181C>T	uc002mkd.3	-	1	574	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	219	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGAGTTCGTCGGGCTGCAGG	0.687000														25			7		0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34220242	34220242	+	Silent	SNP	C	G	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:34220242C>G	uc010zvj.2	-	3	757	c.390G>C	c.(388-390)ggG>ggC	p.G130G	CPNE1_uc002xde.3_Silent_p.G125G|CPNE1_uc002xdf.3_Silent_p.G125G|CPNE1_uc002xdi.3_Silent_p.G125G|CPNE1_uc002xdj.3_Silent_p.G125G|CPNE1_uc002xdl.3_Silent_p.G125G|CPNE1_uc002xdm.3_Silent_p.G125G|CPNE1_uc010gfk.2_Silent_p.G125G|CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	125					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCGTGATGGTCCCCCGCCCAG	0.527000														24			10		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605727	142605727	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:142605727C>T	uc003wby.1	-	14	2407	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	715	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G715*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGTTCAGTCCAAGATTCAAG	0.572000														73			33		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564320	36564320	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:36564320G>A	uc001bzv.2	-	1	969	c.962C>T	c.(961-963)cCa>cTa	p.P321L	COL8A2_uc001bzw.2_Missense_Mutation_p.P256L	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	321	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTGGGGCCTGGCAGTCCTGG	0.716000														34			3		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2926801	2926801	+	Silent	SNP	C	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:2926801C>A	uc002klo.3	-	12	1952	c.1713G>T	c.(1711-1713)ctG>ctT	p.L571L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	571					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGGATTCTGGCAGCTGTAACA	0.542000														16			8		5.18039e-06	5.2013e-06	1	1	0
ZNF692	55657	broad.mit.edu	37	1	249144584	249144587	+	Frame_Shift_Del	DEL	CTGT	-	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:249144584_249144587delCTGT	uc001ifc.2	-	11	1593_1596	c.1382_1385delACAG	c.(1381-1386)gacagtfs	p.D461fs	ZNF692_uc001iez.2_Frame_Shift_Del_p.D183fs|ZNF692_uc001ifb.2_Frame_Shift_Del_p.D257fs|ZNF692_uc010pzr.2_Frame_Shift_Del_p.D466fs|ZNF692_uc001iff.2_Frame_Shift_Del_p.D416fs	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTGCAACACTGTCTGGCTTCTC	0.603													---	142	---	---	25	---					
MEMO1	51072	broad.mit.edu	37	2	32117132	32117132	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:32117132delC	uc002rnx.3	-	5	891	c.509delG	c.(508-510)ggafs	p.G170fs	MEMO1_uc010ymu.2_Frame_Shift_Del_p.G147fs|MEMO1_uc010ezq.3_Frame_Shift_Del_p.G170fs|MEMO1_uc002rny.3_Intron|MEMO1_uc002rnz.3_Non-coding_Transcript	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN	Homo sapiens mediator of cell motility 1 (MEMO1), transcript variant 1, mRNA.	170					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAAGAGTTTTCCGAATTCCTG	0.353													---	80	---	---	25	---					
PBRM1	55193	broad.mit.edu	37	3	52610608	52610609	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52610608_52610609insT	uc003des.2	-	21	3651_3652	c.3639_3640insA	c.(3637-3642)aaagaafs	p.K1213fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Ins_p.K1213fs|PBRM1_uc003der.2_Frame_Shift_Ins_p.K1181fs|PBRM1_uc003det.2_Frame_Shift_Ins_p.K1228fs|PBRM1_uc003deu.2_Frame_Shift_Ins_p.K1228fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Ins_p.K1213fs|PBRM1_uc010hmk.1_Frame_Shift_Ins_p.K1188fs|PBRM1_uc003dey.2_Frame_Shift_Ins_p.K1188fs|PBRM1_uc003dez.1_Frame_Shift_Ins_p.K1212fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1213	BAH 2.		Missing (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.E1214fs*4(5)|p.E1214*(3)|p.E1182fs*4(1)|p.M1209_E1214delMFYKKE(1)|p.E1182*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAAATACTTCTTTTTTGTAGA	0.371			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								---	48	---	---	12	---					
SLC30A5	64924	broad.mit.edu	37	5	68413171	68413172	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:68413171_68413172insT	uc003jvh.3	+	10	1694_1695	c.1387_1388insT	c.(1387-1389)cttfs	p.L463fs	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Frame_Shift_Ins_p.L192fs|SLC30A5_uc003jvi.3_Frame_Shift_Ins_p.L292fs	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	463					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AGTCATGGGACTTTTTGCTGCC	0.455													---	112	---	---	19	---					
OR2B3	442184	broad.mit.edu	37	6	29055000	29055001	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:29055000_29055001insA	uc003nlx.3	-	0	90_91	c.25_26insT	c.(25-27)ccafs	p.P9fs		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AAACTCTTTTGGGGAGCTCTCA	0.361													---	41	---	---	7	---					
E2F5	1875	broad.mit.edu	37	8	86119688	86119688	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:86119688delT	uc003ycz.4	+	4	616	c.579delT	c.(577-579)cctfs	p.P193fs	E2F5_uc003yda.4_Frame_Shift_Del_p.P193fs|E2F5_uc010mab.3_Frame_Shift_Del_p.P32fs	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	193	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TTCAGGCACCTTCTGGTACAC	0.363													---	4	---	---	2	---					
MRE11A	4361	broad.mit.edu	37	11	94204801	94204801	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:94204801delA	uc009ywj.2	-	7	1113	c.793delT	c.(793-795)tatfs	p.Y265fs	MRE11A_uc001peu.2_Frame_Shift_Del_p.Y262fs|MRE11A_uc001pev.2_Frame_Shift_Del_p.Y262fs			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	262					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TGTGAGATATAAAACAGCTGT	0.368								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				---	65	---	---	10	---					
CDKN3	1033	broad.mit.edu	37	14	54884632	54884632	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:54884632delG	uc001xap.3	+	6	629	c.515delG	c.(514-516)cgafs	p.R172fs	CDKN3_uc001xar.3_Frame_Shift_Del_p.R132fs|CDKN3_uc010aoj.2_Non-coding_Transcript	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 3 (CDKN3), transcript variant 1, mRNA.	172					G1/S transition of mitotic cell cycle|cell cycle arrest|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						GACAGCCTGCGAGACCTAAGA	0.458													---	4	---	---	2	---					
OLIG1	116448	broad.mit.edu	37	21	34442853	34442854	+	In_Frame_Ins	INS	-	AGC	AGC			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:34442853_34442854insAGC	uc002yqz.3	+	0	404_405	c.301_302insAGC	c.(301-303)gag>gAGCag	p.105_106insQ		NM_138983	NP_620450	Q8TAK6	OLIG1_HUMAN	Homo sapiens oligodendrocyte transcription factor 1 (OLIG1), mRNA.	105	Poly-Gln.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCCAAGGAGGAGCAGCAGCAG	0.757													---	6	---	---	4	---